Items where Subject is "C420 Human Genetics"

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ANCA associated vasculitis ATXN2 gene Adams-Oliver syndrome; NOTCH1; genetics Addison disease Adolescent Adult Age Distribution Age of Onset Aged Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis Antigens, CD Antigens, CD28 Antigens, CD40 Antigens, Differentiation Antigens, Differentiation, T-Lymphocyte Apoptosis Regulatory Proteins Array CGH Article Autoantibodies Autoimmune Diseases Autoimmune Thyroid Disease Autoimmune thyroid disease Autoimmunity B lymphocyte B lymphocyte activation BACH2 gene BTNL2 gene Bach2 gene Base Sequence Bioethics Birthweight Blood Pressure Brain size C reactive protein CADASIL CAG repeat CD4+ T lymphocyte CD40 antigen CD40 antigen, article CD8+ T lymphocyte CDC73 CTLA 4 gene CTLA4 gene CYP3A4 gene CYP3A5 gene Calcineurin Case control studies Case-Control Studies Caucasian Causality Chi-Square Distribution Child Child, Preschool Chromosome Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 9 Cloning Cluster Analysis Cohort Studies Colorectal Cancer Complement System Proteins Confidence Intervals Cross-Sectional Studies Cyclophilins Cytochrome P-450 CYP3A DNA DNA Primers DNA catenation DNA determination DNA extraction DNA methylation DNA polymorphism DNA repair DNA replication DNA sequence DNA, article DSD Databases, Genetic Deoxyribonuclease I Diabetes Mellitus, Type 1 Disease Disease Progression Electronic computers. Computer science Endocrine Disease England Epigenesis, Genetic Epistasis, Genetic Europe European Continental Ancestry Group Exons FCLR3 gene FCRL1 protein, human FCRL3 protein, human FCRL5 gene Fc receptor Fc receptor IIa Fc receptor IIa, antibody production Fc receptor like 3 GWAS Gene Dosage Gene Frequency Gene-Environment Interaction Genes, MHC Class II Genetic Association Studies Genetic Loci Genetic Predisposition to Disease Genetic Variation Genetic variation Genetics Genome Wide Association Studies Genome, Human Genome-Wide Association Study Genome-wide association studies Genomics Genotype Global governance Graves disease Graves disease, Case-Control Studies Graves’ disease Great Britain HDLBP gene HLA Antigens HLA B antigen HLA B27 antigen HLA C antigen HLA DQA1 antigen HLA DQB1 antigen HLA DR antigen HLA DR antigen, amino acid sequence HLA DR13 antigen HLA DR15 antigen HLA DR3 antigen HLA DR4 antigen HLA DR7 antigen HLA antigen HLA antigen class 1 HLA antigen class 2 HLA antigen class 3 HLA matching HLA system HLA-B Antigens HLA-C Antigens HLA-DQ Antigens HLA-DR Antigens Haplotypes Hashimoto Disease Hashimoto disease Histocompatibility Antigens Class I Histocompatibility Antigens Class II Holliday junctions Human Leukocyte Antigen Human genetics Humans I kappa B IFIH1 gene IL2 gene IL27 insulinoma associated antigen 2 gene IL2RA gene Immunosuppressive Agents Infant Inheritance Patterns Interleukin-13 Intracranial volume Introns JCOpen JSRP1 gene Kaplan-Meier Estimate Kidney Transplantation Large artery stroke Libyan Arab Jamahiriya Life course Linkage Disequilibrium Linkage disequilibrium Logistic Models Lupus Erythematosus, Systemic MAGI3 gene Major Histocompatibility Complex Mantel Haenszel test Maternal smoking Mediation Membrane Glycoproteins Membrane Proteins Mice Middle Aged Models, Genetic Mutation NBS1 NR1I2 gene Neurodegeneration Neuroscience NotOAChecked Odds Ratio Open Reading Frames P-Glycoprotein PCA gene PICH PPIA gene PTPN22 gene Pakistan Pancreas transplantation Parafibromin Persistence Phenotype Physical Chromosome Mapping Polymerase Chain Reaction Polymorphism, Genetic Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Population Pregnancy Protein Tyrosine Phosphatase, Non-Receptor Type 22 Protein Tyrosine Phosphatases Protein-Tyrosine-Phosphatase Quantitative Trait Loci RAD51 RASGRP1 gene Receptors, Cell Surface Receptors, IgG Receptors, Immunologic Receptors, Steroid Receptors, Thyrotropin Reference Values Regression Analysis Risk Risk Factors SH2B3 gene SIAE gene SRY gene STAT4 gene SUMO protein Sample Size, Europe Sequence Analysis, DNA Sex Distribution Stroke Susceptibility Loci T lymphocyte T lymphocyte, Case-Control Studies TEKT1 gene TPO gene TSHR gene, Autoimmune Diseases Taq polymerase Tg gene Thyroid Thyroid Diseases Tissue Donors Topoisomerase II Transcription Factors Translocations Transplantation, Homologous Treatment Failure Trinucleotide Repeats Tumor Necrosis Factor-alpha Type 1 Diabetes Type 1 diabetes UBASH3A gene UFBs UNESCO UTX gene, Genome-Wide Association Study United Kingdom United Kingdom, Adaptor Proteins, Signal Transducing United Kingdom, Adolescent United Kingdom, Adult United Kingdom, Alleles United Kingdom, Autoantibodies Utopia Variation X chromosome X chromosome inactivation acetylesterase adiposity adult aged alanine allele allotransplantation alpha 1 antitrypsin amelogenin analytic method anamnesis ankylosing spondylitis antibody blood level antibody response antigen function antigen presentation article autoantibody autoimmune disease autoimmune polyendocrinopathy candidiasis ectodermal dystrophy autoimmune regulator protein autoimmune regulator protein 1 autoimmune thyroid disease autoimmune thyroiditis autoimmunity azathioprine bacterial infection binding site biogenetics blood group ABO system bmjgoldcheck body mass body mass index (BMI) cadaver kidney cancer risk cardiovascular magnetic resonance case control study caveolin 1 caveolin 1, adult celiac disease cell antigen cell line cell surface cellular senescence child childhood traits and disorders cholesterol cholesterol blood level chromatin remodeling chromosome chromosome 1 chromosome 14q chromosome 18q chromosome 20q chromosome 2q chromosome 9 chromosome 9q chromosome aberration chromosome deletion X chromosome deletion Y chromosome identification chromosome instability chromosome missegregation chronic kidney disease cohort analysis comparative study complementary DNA confidence interval congenital consortium controlled study copy number variation cyclophilin cytochrome P450 3A4 cytochrome P450 3A5 cytotoxic T lymphocyte antigen 4 deoxyribonuclease I, autoimmune disease development diagnostic equipment dialysis digital disease association disease classification disease course disease incidence disease model disease predisposition donor drug design endocrinology endothelial nitric oxide synthase, adult environmental factor enzyme activity epigenetics ethnic difference ethnology exon female fibroblast fibrosis follow up gastritis gender gender identity gender variance gene gene control gene expression gene frequency gene function gene identification gene interaction gene linkage disequilibrium gene location gene locus gene mapping gene replication gene sequence genetic analysis genetic association genetic epigenesis genetic identification genetic linkage genetic marker genetic polymorphism genetic predisposition genetic risk genetic screening genetic susceptibility genetic transfection genetic variability genetics genome genome analysis genome maintenance genome-wide siRNA screen genomic DNA, adult genomic DNA, chromosome 17 genotype genotype environment interaction genotype phenotype correlation global governance glomerulus filtration rate glutamate decarboxylase glutamine glycine goiter graft failure graft recipient graft survival haplotype haplotype map heart left ventricle ejection fraction heart left ventricle function heredity heritability high throughput sequencing histopathology hla dr8 antigen, antigen detection homologous recombination homozygote human human cell human; haploinsufficiency; heart defects hyperthyroidism hypothyroidism immune dysregulation immune response immune system immunogenetics immunoglobulin enhancer binding protein immunoglobulin receptor immunology immunology, ABO Blood-Group System immunopathogenesis immunopathology immunosuppressive treatment insulin insulin dependent diabetes mellitus insulinoma association antigen 2 interleukin 13, chromosome 5q interleukin 2 receptor alpha, autoimmune thyroiditis intron iodide peroxidase ischemic stroke isolation and purification kalrn gene kidney kidney allograft kidney allograft failure kidney donor kidney fibrosis kidney graft rejection kidney transplantation letter leucine life course logistic regression analysis longitudinal loss of function mutation lymphoid specific phosphatase protein major clinical study major histocompatibility antigen class 1 major histocompatibility antigen class 2 major histocompatibility complex male mean arterial pressure medical assessment membrane protein membrane protein, adolescent messenger RNA messenger RNA, allele meta analysis metabolism microarray analysis microsatellite marker middle aged middle aged, Autoantibodies molecular biology mortality multidrug resistance protein 1 multiple sclerosis myasthenia gravis mycophenolic acid, adult neoplasm nonhuman nonsense mutation nucleotide sequence obesity outcome assessment pancreas islet cell antibody parent pathogenesis pathology pathology, Autoantibodies pathophysiology pernicious anemia phenomenological phenotype phenotypic variation, Autoimmune Diseases phosphatase polymerase chain reaction population genetics population risk pregnane X receptor, ABCB1 gene preschool child prevalence priority journal prognosis programmed cell death 1 gene promoter region promoter region, Alleles protein CD226 protein FCRL3 protein MAP3K7IP2 protein binding protein expression protein tyrosine phosphatase protein tyrosine phosphate nonreceptor 22 ptpn22 gene regulatory mechanism renal replacement therapy restriction fragment length polymorphism retransplantation retrospective study review rheumatoid arthritis risk risk assessment risk factor risk reduction sampling, amplicon sarcoidosis scoring system sepsis sequence analysis serine short tandem repeat sialic acid acetylesterase signal transduction single nucleotide polymorphism single nucleotide polymorphism, Acetylesterase single nucleotide polymorphism, Antigens, CD single nucleotide polymorphism, Autoimmune Diseases single nucleotide polymorphism, Case-Control Studies single nucleotide polymorphism, Chromosomes, Human, Pair 5 statistical analysis, Case-Control Studies stomach parietal cell stroke subclinical hyperthyroidism subclinical hypothyroidism sumo 4 protein surgical mortality systemic lupus erythematosus systemic lupus erythematosus, Codon, Nonsense thyroglobulin, chromosome 8q thyroid cancer thyroid disease thyroid disease, Adolescent thyroid disease, Alleles thyroid disease, Animals thyroid disease, B-Lymphocytes thyroid microsomal antibodies thyroid peroxidase antibody thyrotropin thyrotropin receptor, allele thyrotropin receptor, article thyrotropin, adult tissue Doppler imaging transsexualism treatment failure, Adult treatment outcome, Antigens, CD trinucleotide repeat, Adult tumor necrosis factor alpha tumor necrosis factor alpha, article tumour suppressor type 1 diabetes unclassified drug unclassified drug, acquired immune deficiency syndrome unclassified drug, adult unclassified drug, antigen detection unclassified drug, article unclassified drug, autoimmune disease upregulation, Antigens, CD40 validation study vascular disease, Aged virus antigen, autoimmune disease virus infection, Bacteria (microorganisms) vitiligo, Adult
Number of items at this level: 1336.

ANCA associated vasculitis

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

ATXN2 gene

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Adams-Oliver syndrome; NOTCH1; genetics

Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S. V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, M. Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D. and Trembath, Richard C. (2015) Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver Syndrome with variable cardiac anomalies. Circulation: Cardiovascular genetics, 8 (4). ISSN 1942-325X

Addison disease

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Adolescent

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Adult

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Age Distribution

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Age of Onset

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Aged

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Antigens, CD

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Antigens, CD28

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Antigens, CD40

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Antigens, Differentiation

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Antigens, Differentiation, T-Lymphocyte

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Apoptosis Regulatory Proteins

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Array CGH

Davison, Eleanor J., Fiegler, Heike, Rowan, Andrew, Halford, Sarah, Bicknell, David C., Bodmer, Walter, Tomlinson, Ian P. M. and Carter, Nigel P. (2004) Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. Cancer Research, 64 (14). pp. 4817-4825. ISSN 0008-5472

Davison, Eleanor J., Tarpey, Patrick S., Fiegler, Heike, Tomlinson, Ian P. M. and Carter, Nigel P. (2005) Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization. Genes, Chromosomes and Cancer, 44 (4). pp. 384-391. ISSN 1045-2257

Gaasenbeek, Michelle, Howarth, Kimberley, Rowan, Andrew J., Gorman, Patricia A., Jones, Angela, Chaplin, Tracy, Liu, Ying, Bicknell, David, Davison, Eleanor J., Fiegler, Heike, Carter, Nigel P., Roylance, Rebecca R. and Tomlinson, Ian P. M. (2006) Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers. Cancer Research, 66 (7). pp. 3471-3479. ISSN 0008-5472

Gribble, S. M., Prigmore, E., Burford, D. C., Porter, K. M., Nq, B. L., Douglas, E. J., Fiegler, H. C., Carr, P., Kalaitzopoulos, D., Clegg, S., Sandstrom, R., Temple, I. K., Youings, S. I., Thomas, N. S., Dennis, N. R., Jacobs, P. A., Crolla, J. A. and Carter, N. P. (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Journal of Medical Genetics, 42 (1). pp. 8-16. ISSN 0022-2593

Jones, Angela M., Davison, Eleanor J., Halford, Sarah E. R., Fiegler, Heike, Gorman, Patricia A., Roylance, Rebecca R., Carter, Nigel P. and Tomlinson, Ian P. M. (2005) Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma. Oncogene, 24 (1). pp. 118-129. ISSN 0950-9232

Article

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Autoantibodies

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Autoimmune Diseases

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Autoimmune Thyroid Disease

Simmonds, Matthew and Gough, Stephen (2018) 1.6: Genetic Endocrine Disorders. In: Oxford Desk Reference: Endocrinology. Oxford University Press. ISBN 9780199672837

Autoimmune thyroid disease

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Autoimmunity

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Simmonds, Matthew and Gough, Stephen (2018) 1.6: Genetic Endocrine Disorders. In: Oxford Desk Reference: Endocrinology. Oxford University Press. ISBN 9780199672837

B lymphocyte

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

B lymphocyte activation

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

BACH2 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

BTNL2 gene

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Bach2 gene

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Base Sequence

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Bioethics

Langlois, Adele (2017) The global governance of human cloning: the case of UNESCO. Palgrave Communications, 3 (17019). ISSN 2055-1045

Birthweight

Wang, Guoying, Ali Khan, Anokhi, Rodriguez, Alina, Sebert, Sylvain, Kaakinen, Marika, Cauchi, Stéphane, Froguel, Philippe, Hartikainen, Anna-Liisa, Pouta, Anneli and Järvelin, Marjo-Riitta (2012) The interplay of variants near LEKR and CCNL1 and social stress in relation to birth size. PLoS ONE, 7 (6). e38216. ISSN 1932-6203

Blood Pressure

Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher and Munroe, Patricia B (2016) The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics, 48 (10). pp. 1171-1184. ISSN 1061-4036

Brain size

Ikram, M. Arfan, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Taal, H. Rob, Mook-Kanamori, Dennis O., Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Rivadeneira, Fernando, Uitterlinden, Andre G., Knopman, David S., Hartikainen, Anna-Liisa, Pennell, Craig E., Thiering, Elisabeth, Steegers, Eric A. P., Hakonarson, Hakon, Heinrich, Joachim, Palmer, Lyle J., Jarvelin, Marjo-Riitta, McCarthy, Mark I., Grant, Struan F. A., Pourcain, Beate St, Timpson, Nicholas J., Smith, George Davey, Sovio, Ulla, Nalls, Mike A., Au, Rhoda, Hofman, Albert, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Jaddoe, Vincent W. V., Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Davis, Oliver S. P., Elliott, Paul, Flexeder, Claudia, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Goh, Liang-Kee, Haworth, Claire M. A., Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Jan Hottenga, Jouke, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpeläinen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Murray, Jeffrey C., Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Rodriguez, Alina, Salem, Rany M., Sebert, Sylvain, Siitonen, Niina, Strachan, David P., Teo, Yik-Ying, Valcárcel, Beatriz, Willemsen, Gonneke, Zeggini, Eleftheria, Boomsma, Dorret I., Cooper, Cyrus, Gillman, Matthew, Hocher, Berthold, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Power, Chris, Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature Genetics, 44 (5). pp. 539-544. ISSN 1061-4036

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, van Duijn, Cornelia M., Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5). pp. 532-538. ISSN 1061-4036

C reactive protein

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

CADASIL

Kilarski, Laura L., Rutten-Jacobs, Loes C. A., Bevan, Stephen, Baker, Rob, Hassan, Ahamad, Hughes, Derralynn A. and Markus, Hugh S. (2015) Prevalence of CADASIL and Fabry disease in a cohort of MRI defined younger onset lacunar stroke. PloS one, 10 (8). e0136352. ISSN 1932-6203

CAG repeat

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

CD4+ T lymphocyte

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

CD40 antigen

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

CD40 antigen, article

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

CD8+ T lymphocyte

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

CDC73

Herr, Patrick, Lundin, Cecilia, Evers, Bastiaan, Ebner, Daniel, Bauerschmidt, Christina, Kingham, Guy, Palmai-Pallag, Timea, Mortusewicz, Oliver, Frings, Oliver, Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

CTLA 4 gene

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

CTLA4 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

CYP3A4 gene

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

CYP3A5 gene

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Calcineurin

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Case control studies

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Case-Control Studies

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Caucasian

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Causality

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Chi-Square Distribution

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Child

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Child, Preschool

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Chromosome

Gribble, S. M., Prigmore, E., Burford, D. C., Porter, K. M., Nq, B. L., Douglas, E. J., Fiegler, H. C., Carr, P., Kalaitzopoulos, D., Clegg, S., Sandstrom, R., Temple, I. K., Youings, S. I., Thomas, N. S., Dennis, N. R., Jacobs, P. A., Crolla, J. A. and Carter, N. P. (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Journal of Medical Genetics, 42 (1). pp. 8-16. ISSN 0022-2593

Chromosome Banding

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Chromosome Mapping

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Chromosomes, Human, Pair 1

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Chromosomes, Human, Pair 18

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Chromosomes, Human, Pair 20

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Chromosomes, Human, Pair 9

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Cloning

Langlois, Adele (2017) The global governance of human cloning: the case of UNESCO. Palgrave Communications, 3 (17019). ISSN 2055-1045

Cluster Analysis

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Cohort Studies

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Colorectal Cancer

Davison, Eleanor J., Fiegler, Heike, Rowan, Andrew, Halford, Sarah, Bicknell, David C., Bodmer, Walter, Tomlinson, Ian P. M. and Carter, Nigel P. (2004) Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas. Cancer Research, 64 (14). pp. 4817-4825. ISSN 0008-5472

Davison, Eleanor J., Tarpey, Patrick S., Fiegler, Heike, Tomlinson, Ian P. M. and Carter, Nigel P. (2005) Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization. Genes, Chromosomes and Cancer, 44 (4). pp. 384-391. ISSN 1045-2257

Gaasenbeek, Michelle, Howarth, Kimberley, Rowan, Andrew J., Gorman, Patricia A., Jones, Angela, Chaplin, Tracy, Liu, Ying, Bicknell, David, Davison, Eleanor J., Fiegler, Heike, Carter, Nigel P., Roylance, Rebecca R. and Tomlinson, Ian P. M. (2006) Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers. Cancer Research, 66 (7). pp. 3471-3479. ISSN 0008-5472

Jones, Angela M., Davison, Eleanor J., Halford, Sarah E. R., Fiegler, Heike, Gorman, Patricia A., Roylance, Rebecca R., Carter, Nigel P. and Tomlinson, Ian P. M. (2005) Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma. Oncogene, 24 (1). pp. 118-129. ISSN 0950-9232

Complement System Proteins

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Confidence Intervals

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Cross-Sectional Studies

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Cyclophilins

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Cytochrome P-450 CYP3A

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

DNA

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

DNA Primers

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

DNA catenation

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

DNA determination

Ali, Nadir, Coulson-Thomas, Yvette M., Norton, Andrew L., Dixon, Ronald A. and Williams, D. Ross (2013) Announcement of population data: genetic data for 17 Y-STR AmpFℓSTR® Yfiler™ markers from an immigrant Pakistani population in the UK (British Pakistanis). Forensic Science International: Genetics, 7 (2). e40-e42. ISSN 1872-4973

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

DNA extraction

Ali, Nadir, Coulson-Thomas, Yvette M., Norton, Andrew L., Dixon, Ronald A. and Williams, D. Ross (2013) Announcement of population data: genetic data for 17 Y-STR AmpFℓSTR® Yfiler™ markers from an immigrant Pakistani population in the UK (British Pakistanis). Forensic Science International: Genetics, 7 (2). e40-e42. ISSN 1872-4973

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

DNA methylation

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

DNA polymorphism

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

DNA repair

Herr, Patrick, Lundin, Cecilia, Evers, Bastiaan, Ebner, Daniel, Bauerschmidt, Christina, Kingham, Guy, Palmai-Pallag, Timea, Mortusewicz, Oliver, Frings, Oliver, Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

DNA replication

Xing, Meichun, Wang, Xiaohui, Palmai-Pallag, Timea, Shen, Huahao, Helleday, Thomas, Hickson, Ian D. and Ying, Songmin (2015) Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response. Oncotarget, 6 (35). pp. 37638-37646. ISSN 1949-2553

DNA sequence

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

DNA, article

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

DSD

Davy, Zowie (2012) Differences in sexual development: towards a phenomenological understanding of gender variance. In: Controversies and Confrontations: Violence and Agency, 6-7 December 2012, University of Vienna, Austria.

Databases, Genetic

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Deoxyribonuclease I

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Diabetes Mellitus, Type 1

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Disease

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Disease Progression

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Electronic computers. Computer science

Hudson, John (2011) All watched over by machines of loving grace: part 3 "The monkey in the machine and the machine in the monkey". Digital Imaging and Photography . ISSN UNSPECIFIED

Endocrine Disease

Simmonds, Matthew and Gough, Stephen (2018) 1.6: Genetic Endocrine Disorders. In: Oxford Desk Reference: Endocrinology. Oxford University Press. ISBN 9780199672837

England

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Epigenesis, Genetic

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

Epistasis, Genetic

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Europe

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

European Continental Ancestry Group

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Exons

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

FCLR3 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

FCRL1 protein, human

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

FCRL3 protein, human

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

FCRL5 gene

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Fc receptor

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Fc receptor IIa

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Fc receptor IIa, antibody production

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Fc receptor like 3

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

GWAS

Rodriguez, Alina (2019) GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child and adult BMI. Science Advances, 5 (9). ISSN 2375-2548

Gene Dosage

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Gene Frequency

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Gene-Environment Interaction

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Genes, MHC Class II

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Genetic Association Studies

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Genetic Loci

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Genetic Predisposition to Disease

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Genetic Variation

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Genetic variation

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, van Duijn, Cornelia M., Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5). pp. 532-538. ISSN 1061-4036

Genetics

Ali, Nadir, Coulson-Thomas, Yvette M., Dixon, Ronald A. and Williams, D. Ross (2014) Genetic variation comparison of 15 autosomal STR loci in an immigrant population living in the UK (British Pakistanis) with an ancestral origin population from Pakistan. Forensic Science International: Genetics, 9 . e10-e12. ISSN 1872-4973

Duff, Claire E. and Simmonds, Matthew J. (2017) Genetic predictors of long-term graft function in kidney and pancreas transplant patients. Briefings in Functional Genomics . elw039. ISSN 2041-2649

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Ikram, M. Arfan, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Taal, H. Rob, Mook-Kanamori, Dennis O., Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Rivadeneira, Fernando, Uitterlinden, Andre G., Knopman, David S., Hartikainen, Anna-Liisa, Pennell, Craig E., Thiering, Elisabeth, Steegers, Eric A. P., Hakonarson, Hakon, Heinrich, Joachim, Palmer, Lyle J., Jarvelin, Marjo-Riitta, McCarthy, Mark I., Grant, Struan F. A., Pourcain, Beate St, Timpson, Nicholas J., Smith, George Davey, Sovio, Ulla, Nalls, Mike A., Au, Rhoda, Hofman, Albert, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Jaddoe, Vincent W. V., Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Davis, Oliver S. P., Elliott, Paul, Flexeder, Claudia, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Goh, Liang-Kee, Haworth, Claire M. A., Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Jan Hottenga, Jouke, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpeläinen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Murray, Jeffrey C., Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Rodriguez, Alina, Salem, Rany M., Sebert, Sylvain, Siitonen, Niina, Strachan, David P., Teo, Yik-Ying, Valcárcel, Beatriz, Willemsen, Gonneke, Zeggini, Eleftheria, Boomsma, Dorret I., Cooper, Cyrus, Gillman, Matthew, Hocher, Berthold, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Power, Chris, Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature Genetics, 44 (5). pp. 539-544. ISSN 1061-4036

Kilarski, Laura L., Rutten-Jacobs, Loes C. A., Bevan, Stephen, Baker, Rob, Hassan, Ahamad, Hughes, Derralynn A. and Markus, Hugh S. (2015) Prevalence of CADASIL and Fabry disease in a cohort of MRI defined younger onset lacunar stroke. PloS one, 10 (8). e0136352. ISSN 1932-6203

Malik, Rainer, Dau, Therese, Gonik, Maria, Sivakumar, Anirudh, Deredge, Daniel J., Edeleva, Evgeniia V., Götzfried, Jessica, van der Laan, Sander W., Pasterkamp, Gerard, Beaufort, Nathalie, Seixas, Susana, Bevan, Stephen, Lincz, Lisa F., Holliday, Elizabeth G., Burgess, Annette I., Rannikmäe, Kristiina, Minnerup, Jens, Kriebel, Jennifer, Waldenberger, Melanie, Müller-Nurasyid, Martina, Lichtner, Peter, Saleheen, Danish, Rothwell, Peter M., Levi, Christopher, Attia, John, Sudlow, Cathie L. M., Braun, Dieter, Markus, Hugh S., Wintrode, Patrick L., Berger, Klaus, Jenne, Dieter E. and Dichgans, Martin (2017) Common coding variant inSERPINA1increases the risk for large artery stroke. Proceedings of the National Academy of Sciences, 114 (14). pp. 3613-3618. ISSN 1091-6490

Simmonds, Matthew and Gough, Stephen (2018) 1.6: Genetic Endocrine Disorders. In: Oxford Desk Reference: Endocrinology. Oxford University Press. ISBN 9780199672837

St Pourcain, Beate, Cents, Rolieke A. M., Whitehouse, Andrew J. O., Haworth, Claire M. A., Davis, Oliver S. P., O’Reilly, Paul F., Roulstone, Susan, Wren, Yvonne, Ang, Qi W., Velders, Fleur P., Evans, David M., Kemp, John P., Warrington, Nicole M., Miller, Laura, Timpson, Nicholas J., Ring, Susan M., Verhulst, Frank C., Hofman, Albert, Rivadeneira, Fernando, Meaburn, Emma L., Price, Thomas S., Dale, Philip S., Pillas, Demetris, Yliherva, Anneli, Rodriguez, Alina, Golding, Jean, Jaddoe, Vincent W. V., Jarvelin, Marjo-Riitta, Plomin, Robert, Pennell, Craig E., Tiemeier, Henning and Davey Smith, George (2014) Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5 . p. 4831. ISSN 2041-1723

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, van Duijn, Cornelia M., Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5). pp. 532-538. ISSN 1061-4036

Traylor, Matthew, Bevan, Stephen, Baron, Jean-Claude, Hassan, Ahamad, Lewis, Cathryn M. and Markus, Hugh S. (2015) Genetic architecture of lacunar stroke. Stroke; a journal of cerebral circulation, 46 (9). pp. 2407-2412. ISSN 0039-2499

Wang, Guoying, Ali Khan, Anokhi, Rodriguez, Alina, Sebert, Sylvain, Kaakinen, Marika, Cauchi, Stéphane, Froguel, Philippe, Hartikainen, Anna-Liisa, Pouta, Anneli and Järvelin, Marjo-Riitta (2012) The interplay of variants near LEKR and CCNL1 and social stress in relation to birth size. PLoS ONE, 7 (6). e38216. ISSN 1932-6203

Genome Wide Association Studies

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Genome, Human

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Genome-Wide Association Study

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

Genome-wide association studies

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, van Duijn, Cornelia M., Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5). pp. 532-538. ISSN 1061-4036

Genomics

Langlois, Adele (2006) The governance of genomic information: will it come of age? Genomics, Society and Policy, 2 (3). pp. 49-63. ISSN UNSPECIFIED

Genotype

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Global governance

Langlois, Adele (2017) The global governance of human cloning: the case of UNESCO. Palgrave Communications, 3 (17019). ISSN 2055-1045

Graves disease

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Graves disease, Case-Control Studies

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Graves’ disease

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Great Britain

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HDLBP gene

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

HLA Antigens

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

HLA B antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

HLA B27 antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

HLA C antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

HLA DQA1 antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DQB1 antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DR antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DR antigen, amino acid sequence

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

HLA DR13 antigen

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DR15 antigen

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DR3 antigen

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DR4 antigen

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA DR7 antigen

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA antigen

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA antigen class 1

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

HLA antigen class 2

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA antigen class 3

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

HLA matching

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

HLA system

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

HLA-B Antigens

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

HLA-C Antigens

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

HLA-DQ Antigens

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

HLA-DR Antigens

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Haplotypes

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Hashimoto Disease

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Hashimoto disease

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Histocompatibility Antigens Class I

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Histocompatibility Antigens Class II

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Holliday junctions

Xing, Meichun, Wang, Xiaohui, Palmai-Pallag, Timea, Shen, Huahao, Helleday, Thomas, Hickson, Ian D. and Ying, Songmin (2015) Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response. Oncotarget, 6 (35). pp. 37638-37646. ISSN 1949-2553

Human Leukocyte Antigen

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Human genetics

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D., Colistro, Valentina, Colomar, Mercedes, Colquhoun, Samantha M., Contreras, Alejandra G., Cooper, Cyrus, Cooperrider, Kimberly, Cooper, Leslie T., Coresh, Josef, Courville, Karen J., Criqui, Michael H., Cuevas-Nasu, Lucia, Damsere-Derry, James, Danawi, Hadi, Dandona, Lalit, Dandona, Rakhi, Dargan, Paul I., Davis, Adrian, Davitoiu, Dragos V., Dayama, Anand, de Castro, E. Filipa, De la Cruz-Góngora, Vanessa, De Leo, Diego, de Lima, Graça, Degenhardt, Louisa, del Pozo-Cruz, Borja, Dellavalle, Robert P., Deribe, Kebede, Derrett, Sarah, Jarlais, Don C. Des, Dessalegn, Muluken, deVeber, Gabrielle A., Devries, Karen M., Dharmaratne, Samath D., Dherani, Mukesh K., Dicker, Daniel, Ding, Eric L, Dokova, Klara, Dorsey, E. 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C., Schöttker, Ben, Schwebel, David C., Scott, James G., Seedat, Soraya, Sepanlou, Sadaf G., Serdar, Berrin, Servan-Mori, Edson E., Shaddick, Gavin, Shahraz, Saeid, Levy, Teresa Shamah, Shangguan, Siyi, She, Jun, Sheikhbahaei, Sara, Shibuya, Kenji, Shin, Hwashin H., Shinohara, Yukito, Shiri, Rahman, Shishani, Kawkab, Shiue, Ivy, Sigfusdottir, Inga D., Silberberg, Donald H., Simard, Edgar P., Sindi, Shireen, Singh, Abhishek, Singh, Gitanjali M., Singh, Jasvinder A., Skirbekk, Vegard, Sliwa, Karen, Soljak, Michael, Soneji, Samir, Søreide, Kjetil, Soshnikov, Sergey, Sposato, Luciano A., Sreeramareddy, Chandrashekhar T., Stapelberg, Nicolas J. C., Stathopoulou, Vasiliki, Steckling, Nadine, Stein, Dan J., Stein, Murray B., Stephens, Natalie, Stöckl, Heidi, Straif, Kurt, Stroumpoulis, Konstantinos, Sturua, Lela, Sunguya, Bruno F., Swaminathan, Soumya, Swaroop, Mamta, Sykes, Bryan L., Tabb, Karen M., Takahashi, Ken, Talongwa, Roberto T., Tandon, Nikhil, Tanne, David, Tanner, Marcel, Tavakkoli, Mohammad, Te Ao, Braden J., Teixeira, Carolina M., Téllez Rojo, Martha M., Terkawi, Abdullah S., Texcalac-Sangrador, José Luis, Thackway, Sarah V., Thomson, Blake, Thorne-Lyman, Andrew L., Thrift, Amanda G., Thurston, George D., Tillmann, Taavi, Tobollik, Myriam, Tonelli, Marcello, Topouzis, Fotis, Towbin, Jeffrey A., Toyoshima, Hideaki, Traebert, Jefferson, Tran, Bach X., Trasande, Leonardo, Trillini, Matias, Trujillo, Ulises, Dimbuene, Zacharie Tsala, Tsilimbaris, Miltiadis, Tuzcu, Emin Murat, Uchendu, Uche S., Ukwaja, Kingsley N., Uzun, Selen B., van de Vijver, Steven, Van Dingenen, Rita, van Gool, Coen H., van Os, Jim, Varakin, Yuri Y., Vasankari, Tommi J., Vasconcelos, Ana Maria N., Vavilala, Monica S., Veerman, Lennert J., Velasquez-Melendez, Gustavo, Venketasubramanian, N., Vijayakumar, Lakshmi, Villalpando, Salvador, Violante, Francesco S., Vlassov, Vasiliy Victorovich, Vollset, Stein Emil, Wagner, Gregory R., Waller, Stephen G., Wallin, Mitchell T., Wan, Xia, Wang, Haidong, Wang, JianLi, Wang, Linhong, Wang, Wenzhi, Wang, Yanping, Warouw, Tati S., Watts, Charlotte H., Weichenthal, Scott, Weiderpass, Elisabete, Weintraub, Robert G., Werdecker, Andrea, Wessells, K. Ryan, Westerman, Ronny, Whiteford, Harvey A., Wilkinson, James D., Williams, Hywel C., Williams, Thomas N., Woldeyohannes, Solomon M., Wolfe, Charles D. A., Wong, John Q., Woolf, Anthony D., Wright, Jonathan L., Wurtz, Brittany, Xu, Gelin, Yan, Lijing L., Yang, Gonghuan, Yano, Yuichiro, Ye, Pengpeng, Yenesew, Muluken, Yentür, Gökalp K., Yip, Paul, Yonemoto, Naohiro, Yoon, Seok-Jun, Younis, Mustafa Z., Younoussi, Zourkaleini, Yu, Chuanhua, Zaki, Maysaa E., Zhao, Yong, Zheng, Yingfeng, Zhou, Maigeng, Zhu, Jun, Zhu, Shankuan, Zou, Xiaonong, Zunt, Joseph R., Lopez, Alan D., Vos, Theo and Murray, Christopher J. (2015) Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013. The Lancet, 386 (10010). pp. 2287-2323. ISSN 0140-6736

Pappa, Irene, St Pourcain, Beate, Benke, Kelly, Cavadino, Alana, Hakulinen, Christian, Nivard, Michel G., Nolte, Ilja M., Tiesler, Carla M. T., Bakermans-Kranenburg, Marian J., Davies, Gareth E., Evans, David M., Geoffroy, Marie-Claude, Grallert, Harald, Groen-Blokhuis, Maria M., Hudziak, James J., Kemp, John P., Keltikangas-Järvinen, Liisa, McMahon, George, Mileva-Seitz, Viara R., Motazedi, Ehsan, Power, Christine, Raitakari, Olli T., Ring, Susan M., Rivadeneira, Fernando, Rodriguez, Alina, Scheet, Paul A., Seppälä, Ilkka, Snieder, Harold, Standl, Marie, Thiering, Elisabeth, Timpson, Nicholas J., Veenstra, René, Velders, Fleur P., Whitehouse, Andrew J. O., Smith, George Davey, Heinrich, Joachim, Hypponen, Elina, Lehtimäki, Terho, Middeldorp, Christel M., Oldehinkel, Albertine J., Pennell, Craig E., Boomsma, Dorret I. and Tiemeier, Henning (2015) A genome-wide approach to children's aggressive behavior: the EAGLE consortium. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171 (5). ISSN 1552-4841

van der Valk, R. J. P., Kreiner-Moller, E., Kooijman, M. N., Guxens, M., Stergiakouli, E., Saaf, A., Bradfield, J. P., Geller, F., Hayes, M. G., Cousminer, D. L., Korner, A., Thiering, E., Curtin, J. A., Myhre, R., Huikari, V., Joro, R., Kerkhof, M., Warrington, N. M., Pitkanen, N., Ntalla, I., Horikoshi, M., Veijola, R., Freathy, R. M., Teo, Y.-Y., Barton, S. J., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S. M., Davey Smith, G., Bergstrom, A., Kull, I., Hakonarson, H., Mentch, F. D., Bisgaard, H., Chawes, B., Stokholm, J., Waage, J., Eriksen, P., Sevelsted, A., Melbye, M., van Duijn, C. M., Medina-Gomez, C., Hofman, A., de Jongste, J. C., Taal, H. R., Uitterlinden, A. G., Armstrong, L. L., Eriksson, J., Palotie, A., Bustamante, M., Estivill, X., Gonzalez, J. R., Llop, S., Kiess, W., Mahajan, A., Flexeder, C., Tiesler, C. M. T., Murray, C. S., Simpson, A., Magnus, P., Sengpiel, V., Hartikainen, A.-L., Keinanen-Kiukaanniemi, S., Lewin, A., Da Silva Couto Alves, A., Blakemore, A. I., Buxton, J. L., Kaakinen, M., Rodriguez, A., Sebert, S., Vaarasmaki, M., Lakka, T., Lindi, V., Gehring, U., Postma, D. S., Ang, W., Newnham, J. P., Lyytikainen, L.-P., Pahkala, K., Raitakari, O. T., Panoutsopoulou, K., Zeggini, E., Boomsma, D. I., Groen-Blokhuis, M., Ilonen, J., Franke, L., Hirschhorn, J. N., Pers, T. H., Liang, L., Huang, J., Hocher, B., Knip, M., Saw, S.-M., Holloway, J. W., Melen, E., Grant, S. F. A., Feenstra, B., Lowe, W. L., Widen, E., Sergeyev, E., Grallert, H., Custovic, A., Jacobsson, B., Jarvelin, M.-R., Atalay, M., Koppelman, G. H., Pennell, C. E., Niinikoski, H., Dedoussis, G. V., Mccarthy, M. I., Frayling, T. M., Sunyer, J., Timpson, N. J., Rivadeneira, F., Bonnelykke, K. and Jaddoe, V. W. V. (2015) A novel common variant in DCST2 is associated with length in early life and height in adulthood. Human Molecular Genetics, 24 (4). pp. 1155-1168. ISSN 0964-6906

Humans

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

I kappa B

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

IFIH1 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

IL2 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

IL27 insulinoma associated antigen 2 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

IL2RA gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Immunosuppressive Agents

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Infant

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Inheritance Patterns

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

Interleukin-13

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Intracranial volume

Ikram, M. Arfan, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Taal, H. Rob, Mook-Kanamori, Dennis O., Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Rivadeneira, Fernando, Uitterlinden, Andre G., Knopman, David S., Hartikainen, Anna-Liisa, Pennell, Craig E., Thiering, Elisabeth, Steegers, Eric A. P., Hakonarson, Hakon, Heinrich, Joachim, Palmer, Lyle J., Jarvelin, Marjo-Riitta, McCarthy, Mark I., Grant, Struan F. A., Pourcain, Beate St, Timpson, Nicholas J., Smith, George Davey, Sovio, Ulla, Nalls, Mike A., Au, Rhoda, Hofman, Albert, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Jaddoe, Vincent W. V., Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Adair, Linda S., Ang, Wei, Atalay, Mustafa, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Davis, Oliver S. P., Elliott, Paul, Flexeder, Claudia, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Goh, Liang-Kee, Haworth, Claire M. A., Hadley, Dexter, Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Jan Hottenga, Jouke, Horikoshi, Momoko, Huikari, Ville, Hypponen, Elina, Kilpeläinen, Tuomas O., Kirin, Mirna, Kowgier, Matthew, Lakka, Hanna-Maaria, Lange, Leslie A., Lawlor, Debbie A., Lehtimäki, Terho, Lewin, Alex, Lindgren, Cecilia, Lindi, Virpi, Maggi, Reedik, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Murray, Jeffrey C., Nivard, Michel, Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Rodriguez, Alina, Salem, Rany M., Sebert, Sylvain, Siitonen, Niina, Strachan, David P., Teo, Yik-Ying, Valcárcel, Beatriz, Willemsen, Gonneke, Zeggini, Eleftheria, Boomsma, Dorret I., Cooper, Cyrus, Gillman, Matthew, Hocher, Berthold, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Power, Chris, Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature Genetics, 44 (5). pp. 539-544. ISSN 1061-4036

Introns

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

JCOpen

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Forouzanfar, Mohammad H., Alexander, Lily, Anderson, H. Ross, Bachman, Victoria F., Biryukov, Stan, Brauer, Michael, Burnett, Richard, Casey, Daniel, Coates, Matthew M., Cohen, Aaron, Delwiche, Kristen, Estep, Kara, Frostad, Joseph J., KC, Astha, Kyu, Hmwe H., Moradi-Lakeh, Maziar, Ng, Marie, Slepak, Erica Leigh, Thomas, Bernadette A., Wagner, Joseph, Aasvang, Gunn Marit, Abbafati, Cristiana, Ozgoren, Ayse Abbasoglu, Abd-Allah, Foad, Abera, Semaw F., Aboyans, Victor, Abraham, Biju, Abraham, Jerry Puthenpurakal, Abubakar, Ibrahim, Abu-Rmeileh, Niveen M. E., Aburto, Tania C., Achoki, Tom, Adelekan, Ademola, Adofo, Koranteng, Adou, Arsène K., Adsuar, José C., Afshin, Ashkan, Agardh, Emilie E., Al Khabouri, Mazin J., Al Lami, Faris H., Alam, Sayed Saidul, Alasfoor, Deena, Albittar, Mohammed I., Alegretti, Miguel A., Aleman, Alicia V., Alemu, Zewdie A., Alfonso-Cristancho, Rafael, Alhabib, Samia, Ali, Raghib, Ali, Mohammed K., Alla, François, Allebeck, Peter, Allen, Peter J., Alsharif, Ubai, Alvarez, Elena, Alvis-Guzman, Nelson, Amankwaa, Adansi A., Amare, Azmeraw T., Ameh, Emmanuel A., Ameli, Omid, Amini, Heresh, Ammar, Walid, Anderson, Benjamin O., Antonio, Carl Abelardo T., Anwari, Palwasha, Cunningham, Solveig Argeseanu, Arnlöv, Johan, Arsenijevic, Valentina S. Arsic, Artaman, Al, Asghar, Rana J., Assadi, Reza, Atkins, Lydia S., Atkinson, Charles, Avila, Marco A., Awuah, Baffour, Badawi, Alaa, Bahit, Maria C., Bakfalouni, Talal, Balakrishnan, Kalpana, Balalla, Shivanthi, Balu, Ravi Kumar, Banerjee, Amitava, Barber, Ryan M., Barker-Collo, Suzanne L., Barquera, Simon, Barregard, Lars, Barrero, Lope H., Barrientos-Gutierrez, Tonatiuh, Basto-Abreu, Ana C., Basu, Arindam, Basu, Sanjay, Basulaiman, Mohammed O., Ruvalcaba, Carolina Batis, Beardsley, Justin, Bedi, Neeraj, Bekele, Tolesa, Bell, Michelle L., Benjet, Corina, Bennett, Derrick A., Benzian, Habib, Bernabé, Eduardo, Beyene, Tariku J., Bhala, Neeraj, Bhalla, Ashish, Bhutta, Zulfiqar A., Bikbov, Boris, Abdulhak, Aref A. Bin, Blore, Jed D., Blyth, Fiona M., Bohensky, Megan A., Başara, Berrak Bora, Borges, Guilherme, Bornstein, Natan M., Bose, Dipan, Boufous, Soufiane, Bourne, Rupert R., Brainin, Michael, Brazinova, Alexandra, Breitborde, Nicholas J., Brenner, Hermann, Briggs, Adam D. M., Broday, David M., Brooks, Peter M., Bruce, Nigel G., Brugha, Traolach S., Brunekreef, Bert, Buchbinder, Rachelle, Bui, Linh N., Bukhman, Gene, Bulloch, Andrew G., Burch, Michael, Burney, Peter G. J., Campos-Nonato, Ismael R., Campuzano, Julio C., Cantoral, Alejandra J., Caravanos, Jack, Cárdenas, Rosario, Cardis, Elisabeth, Carpenter, David O., Caso, Valeria, Castañeda-Orjuela, Carlos A., Castro, Ruben E., Catalá-López, Ferrán, Cavalleri, Fiorella, Çavlin, Alanur, Chadha, Vineet K., Chang, Jung-chen, Charlson, Fiona J., Chen, Honglei, Chen, Wanqing, Chen, Zhengming, Chiang, Peggy P., Chimed-Ochir, Odgerel, Chowdhury, Rajiv, Christophi, Costas A., Chuang, Ting-Wu, Chugh, Sumeet S., Cirillo, Massimo, Claßen, Thomas K. D., Colistro, Valentina, Colomar, Mercedes, Colquhoun, Samantha M., Contreras, Alejandra G., Cooper, Cyrus, Cooperrider, Kimberly, Cooper, Leslie T., Coresh, Josef, Courville, Karen J., Criqui, Michael H., Cuevas-Nasu, Lucia, Damsere-Derry, James, Danawi, Hadi, Dandona, Lalit, Dandona, Rakhi, Dargan, Paul I., Davis, Adrian, Davitoiu, Dragos V., Dayama, Anand, de Castro, E. Filipa, De la Cruz-Góngora, Vanessa, De Leo, Diego, de Lima, Graça, Degenhardt, Louisa, del Pozo-Cruz, Borja, Dellavalle, Robert P., Deribe, Kebede, Derrett, Sarah, Jarlais, Don C. Des, Dessalegn, Muluken, deVeber, Gabrielle A., Devries, Karen M., Dharmaratne, Samath D., Dherani, Mukesh K., Dicker, Daniel, Ding, Eric L, Dokova, Klara, Dorsey, E. Ray, Driscoll, Tim R., Duan, Leilei, Durrani, Adnan M., Ebel, Beth E., Ellenbogen, Richard G., Elshrek, Yousef M., Endres, Matthias, Ermakov, Sergey P., Erskine, Holly E., Eshrati, Babak, Esteghamati, Alireza, Fahimi, Saman, Faraon, Emerito Jose A., Farzadfar, Farshad, Fay, Derek F. J., Feigin, Valery L., Feigl, Andrea B., Fereshtehnejad, Seyed-Mohammad, Ferrari, Alize J., Ferri, Cleusa P., Flaxman, Abraham D., Fleming, Thomas D., Foigt, Nataliya, Foreman, Kyle J., Paleo, Urbano Fra, Franklin, Richard C., Gabbe, Belinda, Gaffikin, Lynne, Gakidou, Emmanuela, Gamkrelidze, Amiran, Gankpé, Fortuné G., Gansevoort, Ron T., García-Guerra, Francisco A., Gasana, Evariste, Geleijnse, Johanna M., Gessner, Bradford D., Gething, Pete, Gibney, Katherine B., Gillum, Richard F., Ginawi, Ibrahim A. M., Giroud, Maurice, Giussani, Giorgia, Goenka, Shifalika, Goginashvili, Ketevan, Dantes, Hector Gomez, Gona, Philimon, de Cosio, Teresita Gonzalez, González-Castell, Dinorah, Gotay, Carolyn C., Goto, Atsushi, Gouda, Hebe N., Guerrant, Richard L., Gugnani, Harish C., Guillemin, Francis, Gunnell, David, Gupta, Rahul, Gupta, Rajeev, Gutiérrez, Reyna A., Hafezi-Nejad, Nima, Hagan, Holly, Hagstromer, Maria, Halasa, Yara A., Hamadeh, Randah R., Hammami, Mouhanad, Hankey, Graeme J., Hao, Yuantao, Harb, Hilda L., Haregu, Tilahun Nigatu, Haro, Josep Maria, Havmoeller, Rasmus, Hay, Simon I., Hedayati, Mohammad T., Heredia-Pi, Ileana B., Hernandez, Lucia, Heuton, Kyle R., Heydarpour, Pouria, Hijar, Martha, Hoek, Hans W., Hoffman, Howard J., Hornberger, John C., Hosgood, H. Dean, Hoy, Damian G., Hsairi, Mohamed, Hu, Guoqing, Hu, Howard, Huang, Cheng, Huang, John J., Hubbell, Bryan J., Huiart, Laetitia, Husseini, Abdullatif, Iannarone, Marissa L., Iburg, Kim M., Idrisov, Bulat T., Ikeda, Nayu, Innos, Kaire, Inoue, Manami, Islami, Farhad, Ismayilova, Samaya, Jacobsen, Kathryn H., Jansen, Henrica A., Jarvis, Deborah L., Jassal, Simerjot K., Jauregui, Alejandra, Jayaraman, Sudha, Jeemon, Panniyammakal, Jensen, Paul N., Jha, Vivekanand, Jiang, Fan, Jiang, Guohong, Jiang, Ying, Jonas, Jost B., Juel, Knud, Kan, Haidong, Roseline, Sidibe S Kany, Karam, Nadim E., Karch, André, Karema, Corine K., Karthikeyan, Ganesan, Kaul, Anil, Kawakami, Norito, Kazi, Dhruv S., Kemp, Andrew H., Kengne, Andre P., Keren, Andre, Khader, Yousef S., Khalifa, Shams Eldin Ali Hassan, Khan, Ejaz A., Khang, Young-Ho, Khatibzadeh, Shahab, Khonelidze, Irma, Kieling, Christian, Kim, Daniel, Kim, Sungroul, Kim, Yunjin, Kimokoti, Ruth W, Kinfu, Yohannes, Kinge, Jonas M., Kissela, Brett M., Kivipelto, Miia, Knibbs, Luke D., Knudsen, Ann Kristin, Kokubo, Yoshihiro, Kose, M. Rifat, Kosen, Soewarta, Kraemer, Alexander, Kravchenko, Michael, Krishnaswami, Sanjay, Kromhout, Hans, Ku, Tiffany, Defo, Barthelemy Kuate, Bicer, Burcu Kucuk, Kuipers, Ernst J., Kulkarni, Chanda, Kulkarni, Veena S., Kumar, G. Anil, Kwan, Gene F., Lai, Taavi, Balaji, Arjun Lakshmana, Lalloo, Ratilal, Lallukka, Tea, Lam, Hilton, Lan, Qing, Lansingh, Van C., Larson, Heidi J., Larsson, Anders, Laryea, Dennis O., Lavados, Pablo M., Lawrynowicz, Alicia E., Leasher, Janet L., Lee, Jong-Tae, Leigh, James, Leung, Ricky, Levi, Miriam, Li, Yichong, Li, Yongmei, Liang, Juan, Liang, Xiaofeng, Lim, Stephen S., Lindsay, M. Patrice, Lipshultz, Steven E., Liu, Shiwei, Liu, Yang, Lloyd, Belinda K., Logroscino, Giancarlo, London, Stephanie J., Lopez, Nancy, Lortet-Tieulent, Joannie, Lotufo, Paulo A., Lozano, Rafael, Lunevicius, Raimundas, Ma, Jixiang, Ma, Stefan, Machado, Vasco M. P., MacIntyre, Michael F., Magis-Rodriguez, Carlos, Mahdi, Abbas A., Majdan, Marek, Malekzadeh, Reza, Mangalam, Srikanth, Mapoma, Christopher C., Marape, Marape, Marcenes, Wagner, Margolis, David J, Margono, Christopher, Marks, Guy B., Martin, Randall V., Marzan, Melvin B., Mashal, Mohammad T., Masiye, Felix, Mason-Jones, Amanda J., Matsushita, Kunihiro, Matzopoulos, Richard, Mayosi, Bongani M., Mazorodze, Tasara T., McKay, Abigail C., McKee, Martin, McLain, Abigail, Meaney, Peter A, Medina, Catalina, Mehndiratta, Man Mohan, Mejia-Rodriguez, Fabiola, Mekonnen, Wubegzier, Melaku, Yohannes A., Meltzer, Michele, Memish, Ziad A., Mendoza, Walter, Mensah, George A., Meretoja, Atte, Mhimbira, Francis Apolinary, Micha, Renata, Miller, Ted R., Mills, Edward J., Misganaw, Awoke, Mishra, Santosh, Ibrahim, Norlinah Mohamed, Mohammad, Karzan A., Mokdad, Ali H., Mola, Glen L., Monasta, Lorenzo, Hernandez, Julio C. Montañez, Montico, Marcella, Moore, Ami R, Morawska, Lidia, Mori, Rintaro, Moschandreas, Joanna, Moturi, Wilkister N, Mozaffarian, Dariush, Mueller, Ulrich O., Mukaigawara, Mitsuru, Mullany, Erin C., Murthy, Kinnari S., Naghavi, Mohsen, Nahas, Ziad, Naheed, Aliya, Naidoo, Kovin S., Naldi, Luigi, Nand, Devina, Nangia, Vinay, Narayan, KM Venkat, Nash, Denis, Neal, Bruce, Nejjari, Chakib, Neupane, Sudan P., Newton, Charles R., Ngalesoni, Frida N., de Dieu Ngirabega, Jean, Nguyen, Grant, Nguyen, Nhung T., Nieuwenhuijsen, Mark J., Nisar, Muhammad I., Nogueira, José R., Nolla, Joan M., Nolte, Sandra, Norheim, Ole F., Norman, Rosana E., Norrving, Bo, Nyakarahuka, Luke, Oh, In-Hwan, Ohkubo, Takayoshi, Olusanya, Bolajoko O., Omer, Saad B., Opio, John Nelson, Orozco, Ricardo, Pagcatipunan, Rodolfo S., Pain, Amanda W., Pandian, Jeyaraj D., Panelo, Carlo Irwin A., Papachristou, Christina, Park, Eun-Kee, Parry, Charles D., Caicedo, Angel J. Paternina, Patten, Scott B., Paul, Vinod K., Pavlin, Boris I., Pearce, Neil, Pedraza, Lilia S., Pedroza, Andrea, Stokic, Ljiljana Pejin, Pekericli, Ayfer, Pereira, David M., Perez-Padilla, Rogelio, Perez-Ruiz, Fernando, Perico, Norberto, Perry, Samuel A. L., Pervaiz, Aslam, Pesudovs, Konrad, Peterson, Carrie B., Petzold, Max, Phillips, Michael R., Phua, Hwee Pin, Plass, Dietrich, Poenaru, Dan, Polanczyk, Guilherme V., Polinder, Suzanne, Pond, Constance D., Pope, C. Arden, Pope, Daniel, Popova, Svetlana, Pourmalek, Farshad, Powles, John, Prabhakaran, Dorairaj, Prasad, Noela M., Qato, Dima M., Quezada, Amado D., Quistberg, D. Alex A., Racapé, Lionel, Rafay, Anwar, Rahimi, Kazem, Rahimi-Movaghar, Vafa, Rahman, Sajjad Ur, Raju, Murugesan, Rakovac, Ivo, Rana, Saleem M., Rao, Mayuree, Razavi, Homie, Reddy, K. Srinath, Refaat, Amany H., Rehm, Jürgen, Remuzzi, Giuseppe, Ribeiro, Antonio L., Riccio, Patricia M., Richardson, Lee, Riederer, Anne, Robinson, Margaret, Roca, Anna, Rodriguez, Alina, Rojas-Rueda, David, Romieu, Isabelle, Ronfani, Luca, Room, Robin, Roy, Nobhojit, Ruhago, George M., Rushton, Lesley, Sabin, Nsanzimana, Sacco, Ralph L, Saha, Sukanta, Sahathevan, Ramesh, Sahraian, Mohammad Ali, Salomon, Joshua A., Salvo, Deborah, Sampson, Uchechukwu K., Sanabria, Juan R., Sanchez, Luz Maria, Sánchez-Pimienta, Tania G., Sanchez-Riera, Lidia, Sandar, Logan, Santos, Itamar S., Sapkota, Amir, Satpathy, Maheswar, Saunders, James E., Sawhney, Monika, Saylan, Mete I., Scarborough, Peter, Schmidt, Jürgen C., Schneider, Ione J. C., Schöttker, Ben, Schwebel, David C., Scott, James G., Seedat, Soraya, Sepanlou, Sadaf G., Serdar, Berrin, Servan-Mori, Edson E., Shaddick, Gavin, Shahraz, Saeid, Levy, Teresa Shamah, Shangguan, Siyi, She, Jun, Sheikhbahaei, Sara, Shibuya, Kenji, Shin, Hwashin H., Shinohara, Yukito, Shiri, Rahman, Shishani, Kawkab, Shiue, Ivy, Sigfusdottir, Inga D., Silberberg, Donald H., Simard, Edgar P., Sindi, Shireen, Singh, Abhishek, Singh, Gitanjali M., Singh, Jasvinder A., Skirbekk, Vegard, Sliwa, Karen, Soljak, Michael, Soneji, Samir, Søreide, Kjetil, Soshnikov, Sergey, Sposato, Luciano A., Sreeramareddy, Chandrashekhar T., Stapelberg, Nicolas J. C., Stathopoulou, Vasiliki, Steckling, Nadine, Stein, Dan J., Stein, Murray B., Stephens, Natalie, Stöckl, Heidi, Straif, Kurt, Stroumpoulis, Konstantinos, Sturua, Lela, Sunguya, Bruno F., Swaminathan, Soumya, Swaroop, Mamta, Sykes, Bryan L., Tabb, Karen M., Takahashi, Ken, Talongwa, Roberto T., Tandon, Nikhil, Tanne, David, Tanner, Marcel, Tavakkoli, Mohammad, Te Ao, Braden J., Teixeira, Carolina M., Téllez Rojo, Martha M., Terkawi, Abdullah S., Texcalac-Sangrador, José Luis, Thackway, Sarah V., Thomson, Blake, Thorne-Lyman, Andrew L., Thrift, Amanda G., Thurston, George D., Tillmann, Taavi, Tobollik, Myriam, Tonelli, Marcello, Topouzis, Fotis, Towbin, Jeffrey A., Toyoshima, Hideaki, Traebert, Jefferson, Tran, Bach X., Trasande, Leonardo, Trillini, Matias, Trujillo, Ulises, Dimbuene, Zacharie Tsala, Tsilimbaris, Miltiadis, Tuzcu, Emin Murat, Uchendu, Uche S., Ukwaja, Kingsley N., Uzun, Selen B., van de Vijver, Steven, Van Dingenen, Rita, van Gool, Coen H., van Os, Jim, Varakin, Yuri Y., Vasankari, Tommi J., Vasconcelos, Ana Maria N., Vavilala, Monica S., Veerman, Lennert J., Velasquez-Melendez, Gustavo, Venketasubramanian, N., Vijayakumar, Lakshmi, Villalpando, Salvador, Violante, Francesco S., Vlassov, Vasiliy Victorovich, Vollset, Stein Emil, Wagner, Gregory R., Waller, Stephen G., Wallin, Mitchell T., Wan, Xia, Wang, Haidong, Wang, JianLi, Wang, Linhong, Wang, Wenzhi, Wang, Yanping, Warouw, Tati S., Watts, Charlotte H., Weichenthal, Scott, Weiderpass, Elisabete, Weintraub, Robert G., Werdecker, Andrea, Wessells, K. Ryan, Westerman, Ronny, Whiteford, Harvey A., Wilkinson, James D., Williams, Hywel C., Williams, Thomas N., Woldeyohannes, Solomon M., Wolfe, Charles D. A., Wong, John Q., Woolf, Anthony D., Wright, Jonathan L., Wurtz, Brittany, Xu, Gelin, Yan, Lijing L., Yang, Gonghuan, Yano, Yuichiro, Ye, Pengpeng, Yenesew, Muluken, Yentür, Gökalp K., Yip, Paul, Yonemoto, Naohiro, Yoon, Seok-Jun, Younis, Mustafa Z., Younoussi, Zourkaleini, Yu, Chuanhua, Zaki, Maysaa E., Zhao, Yong, Zheng, Yingfeng, Zhou, Maigeng, Zhu, Jun, Zhu, Shankuan, Zou, Xiaonong, Zunt, Joseph R., Lopez, Alan D., Vos, Theo and Murray, Christopher J. (2015) Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990–2013: a systematic analysis for the Global Burden of Disease Study 2013. The Lancet, 386 (10010). pp. 2287-2323. ISSN 0140-6736

Herr, Patrick, Lundin, Cecilia, Evers, Bastiaan, Ebner, Daniel, Bauerschmidt, Christina, Kingham, Guy, Palmai-Pallag, Timea, Mortusewicz, Oliver, Frings, Oliver, Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

Kilarski, Laura L., Rutten-Jacobs, Loes C. A., Bevan, Stephen, Baker, Rob, Hassan, Ahamad, Hughes, Derralynn A. and Markus, Hugh S. (2015) Prevalence of CADASIL and Fabry disease in a cohort of MRI defined younger onset lacunar stroke. PloS one, 10 (8). e0136352. ISSN 1932-6203

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

Pappa, Irene, St Pourcain, Beate, Benke, Kelly, Cavadino, Alana, Hakulinen, Christian, Nivard, Michel G., Nolte, Ilja M., Tiesler, Carla M. T., Bakermans-Kranenburg, Marian J., Davies, Gareth E., Evans, David M., Geoffroy, Marie-Claude, Grallert, Harald, Groen-Blokhuis, Maria M., Hudziak, James J., Kemp, John P., Keltikangas-Järvinen, Liisa, McMahon, George, Mileva-Seitz, Viara R., Motazedi, Ehsan, Power, Christine, Raitakari, Olli T., Ring, Susan M., Rivadeneira, Fernando, Rodriguez, Alina, Scheet, Paul A., Seppälä, Ilkka, Snieder, Harold, Standl, Marie, Thiering, Elisabeth, Timpson, Nicholas J., Veenstra, René, Velders, Fleur P., Whitehouse, Andrew J. O., Smith, George Davey, Heinrich, Joachim, Hypponen, Elina, Lehtimäki, Terho, Middeldorp, Christel M., Oldehinkel, Albertine J., Pennell, Craig E., Boomsma, Dorret I. and Tiemeier, Henning (2015) A genome-wide approach to children's aggressive behavior: the EAGLE consortium. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 171 (5). ISSN 1552-4841

St Pourcain, Beate, Cents, Rolieke A. M., Whitehouse, Andrew J. O., Haworth, Claire M. A., Davis, Oliver S. P., O’Reilly, Paul F., Roulstone, Susan, Wren, Yvonne, Ang, Qi W., Velders, Fleur P., Evans, David M., Kemp, John P., Warrington, Nicole M., Miller, Laura, Timpson, Nicholas J., Ring, Susan M., Verhulst, Frank C., Hofman, Albert, Rivadeneira, Fernando, Meaburn, Emma L., Price, Thomas S., Dale, Philip S., Pillas, Demetris, Yliherva, Anneli, Rodriguez, Alina, Golding, Jean, Jaddoe, Vincent W. V., Jarvelin, Marjo-Riitta, Plomin, Robert, Pennell, Craig E., Tiemeier, Henning and Davey Smith, George (2014) Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5 . p. 4831. ISSN 2041-1723

Traylor, Matthew, Bevan, Stephen, Baron, Jean-Claude, Hassan, Ahamad, Lewis, Cathryn M. and Markus, Hugh S. (2015) Genetic architecture of lacunar stroke. Stroke; a journal of cerebral circulation, 46 (9). pp. 2407-2412. ISSN 0039-2499

Xing, Meichun, Wang, Xiaohui, Palmai-Pallag, Timea, Shen, Huahao, Helleday, Thomas, Hickson, Ian D. and Ying, Songmin (2015) Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response. Oncotarget, 6 (35). pp. 37638-37646. ISSN 1949-2553

van der Valk, R. J. P., Kreiner-Moller, E., Kooijman, M. N., Guxens, M., Stergiakouli, E., Saaf, A., Bradfield, J. P., Geller, F., Hayes, M. G., Cousminer, D. L., Korner, A., Thiering, E., Curtin, J. A., Myhre, R., Huikari, V., Joro, R., Kerkhof, M., Warrington, N. M., Pitkanen, N., Ntalla, I., Horikoshi, M., Veijola, R., Freathy, R. M., Teo, Y.-Y., Barton, S. J., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S. M., Davey Smith, G., Bergstrom, A., Kull, I., Hakonarson, H., Mentch, F. D., Bisgaard, H., Chawes, B., Stokholm, J., Waage, J., Eriksen, P., Sevelsted, A., Melbye, M., van Duijn, C. M., Medina-Gomez, C., Hofman, A., de Jongste, J. C., Taal, H. R., Uitterlinden, A. G., Armstrong, L. L., Eriksson, J., Palotie, A., Bustamante, M., Estivill, X., Gonzalez, J. R., Llop, S., Kiess, W., Mahajan, A., Flexeder, C., Tiesler, C. M. T., Murray, C. S., Simpson, A., Magnus, P., Sengpiel, V., Hartikainen, A.-L., Keinanen-Kiukaanniemi, S., Lewin, A., Da Silva Couto Alves, A., Blakemore, A. I., Buxton, J. L., Kaakinen, M., Rodriguez, A., Sebert, S., Vaarasmaki, M., Lakka, T., Lindi, V., Gehring, U., Postma, D. S., Ang, W., Newnham, J. P., Lyytikainen, L.-P., Pahkala, K., Raitakari, O. T., Panoutsopoulou, K., Zeggini, E., Boomsma, D. I., Groen-Blokhuis, M., Ilonen, J., Franke, L., Hirschhorn, J. N., Pers, T. H., Liang, L., Huang, J., Hocher, B., Knip, M., Saw, S.-M., Holloway, J. W., Melen, E., Grant, S. F. A., Feenstra, B., Lowe, W. L., Widen, E., Sergeyev, E., Grallert, H., Custovic, A., Jacobsson, B., Jarvelin, M.-R., Atalay, M., Koppelman, G. H., Pennell, C. E., Niinikoski, H., Dedoussis, G. V., Mccarthy, M. I., Frayling, T. M., Sunyer, J., Timpson, N. J., Rivadeneira, F., Bonnelykke, K. and Jaddoe, V. W. V. (2015) A novel common variant in DCST2 is associated with length in early life and height in adulthood. Human Molecular Genetics, 24 (4). pp. 1155-1168. ISSN 0964-6906

JSRP1 gene

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Kaplan-Meier Estimate

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Kidney Transplantation

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Duff, Claire E. and Simmonds, Matthew J. (2017) Genetic predictors of long-term graft function in kidney and pancreas transplant patients. Briefings in Functional Genomics . elw039. ISSN 2041-2649

Large artery stroke

Malik, Rainer, Dau, Therese, Gonik, Maria, Sivakumar, Anirudh, Deredge, Daniel J., Edeleva, Evgeniia V., Götzfried, Jessica, van der Laan, Sander W., Pasterkamp, Gerard, Beaufort, Nathalie, Seixas, Susana, Bevan, Stephen, Lincz, Lisa F., Holliday, Elizabeth G., Burgess, Annette I., Rannikmäe, Kristiina, Minnerup, Jens, Kriebel, Jennifer, Waldenberger, Melanie, Müller-Nurasyid, Martina, Lichtner, Peter, Saleheen, Danish, Rothwell, Peter M., Levi, Christopher, Attia, John, Sudlow, Cathie L. M., Braun, Dieter, Markus, Hugh S., Wintrode, Patrick L., Berger, Klaus, Jenne, Dieter E. and Dichgans, Martin (2017) Common coding variant inSERPINA1increases the risk for large artery stroke. Proceedings of the National Academy of Sciences, 114 (14). pp. 3613-3618. ISSN 1091-6490

Libyan Arab Jamahiriya

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

Life course

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Linkage Disequilibrium

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Linkage disequilibrium

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Logistic Models

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Lupus Erythematosus, Systemic

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

MAGI3 gene

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Major Histocompatibility Complex

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Mantel Haenszel test

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Maternal smoking

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Mediation

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Membrane Glycoproteins

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Membrane Proteins

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Mice

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Middle Aged

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Models, Genetic

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Mutation

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

NBS1

Xing, Meichun, Wang, Xiaohui, Palmai-Pallag, Timea, Shen, Huahao, Helleday, Thomas, Hickson, Ian D. and Ying, Songmin (2015) Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response. Oncotarget, 6 (35). pp. 37638-37646. ISSN 1949-2553

NR1I2 gene

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Neurodegeneration

Taal, H. Rob, St Pourcain, Beate, Thiering, Elisabeth, Das, Shikta, Mook-Kanamori, Dennis O., Warrington, Nicole M., Kaakinen, Marika, Kreiner-Møller, Eskil, Bradfield, Jonathan P., Freathy, Rachel M., Geller, Frank, Guxens, Mònica, Cousminer, Diana L., Kerkhof, Marjan, Timpson, Nicholas J., Ikram, M. Arfan, Beilin, Lawrence J., Bønnelykke, Klaus, Buxton, Jessica L., Charoen, Pimphen, Chawes, Bo Lund Krogsgaard, Eriksson, Johan, Evans, David M., Hofman, Albert, Kemp, John P., Kim, Cecilia E., Klopp, Norman, Lahti, Jari, Lye, Stephen J., McMahon, George, Mentch, Frank D., Müller-Nurasyid, Martina, O'Reilly, Paul F., Prokopenko, Inga, Rivadeneira, Fernando, Steegers, Eric A. P., Sunyer, Jordi, Tiesler, Carla, Yaghootkar, Hanieh, Fornage, Myriam, Smith, Albert V., Seshadri, Sudha, Schmidt, Reinhold, Debette, Stéphanie, Vrooman, Henri A., Sigurdsson, Sigurdur, Ropele, Stefan, Coker, Laura H., Longstreth, W. T., Niessen, Wiro J., DeStefano, Anita L., Beiser, Alexa, Zijdenbos, Alex P., Struchalin, Maksim, Jack, Clifford R., Nalls, Mike A., Au, Rhoda, Gudnason, Haukur, van der Lugt, Aad, Harris, Tamara B., Meeks, William M., Vernooij, Meike W., van Buchem, Mark A., Catellier, Diane, Gudnason, Vilmundur, Windham, B. Gwen, Wolf, Philip A., van Duijn, Cornelia M., Mosley, Thomas H., Schmidt, Helena, Launer, Lenore J., Breteler, Monique M. B., DeCarli, Charles, Mosley, Thomas, Ang, Wei, van Beijsterveldt, Toos, Bergen, Nienke, Benke, Kelly, Berry, Diane, Coin, Lachlan, Elliott, Paul, Frayling, Tim, Gaillard, Romy, Groen-Blokhuis, Maria, Hadley, Dexter, Hottenga, Jouke Jan, Huikari, Ville, Hypponen, Elina, Kowgier, Matthew, Lawlor, Debbie A., Lewin, Alex, Lindgren, Cecilia, Marsh, Julie, Middeldorp, Christel, Millwood, Iona, Nivard, Michel, Palmer, Lyle J., Rodriguez, Alina, Sebert, Sylvain, Standl, Marie, Strachan, David P., Uitterlinden, Andre G., Valcárcel, Beatriz, White, Scott, Willemsen, Gonneke, Boomsma, Dorret I., Grant, Struan F. A., Hakonarson, Hakon, Hattersley, Andrew T., Heinrich, Joachim, Jaddoe, Vincent W. V., McCarthy, Mark I., Pennell, Craig E., Power, Chris, Widen, Elisabeth, Blakemore, Alexandra I. F., Chiavacci, Rosetta M., Feenstra, Bjarke, Fernandez-Banet, Julio, Hartikainen, Anna-Liisa, van der Heijden, Albert J., Iñiguez, Carmen, Lathrop, Mark, McArdle, Wendy L., Mølgaard, Anne, Newnham, John P., Palotie, Aarno, Pouta, Annneli, Ring, Susan M., Sovio, Ulla, Wichmann, H-Erich, Vissing, Nadja Hawwa, van Duijn, Cornelia M., Koppelman, Gerard H., Melbye, Mads, Bisgaard, Hans, Smith, George Davey, Adair, Linda S., Atalay, Mustafa, Davis, Oliver S. P., Flexeder, Claudia, Goh, Liang-Kee, Haworth, Claire M. A., Hedebrand, Johannes, Hinney, Anke, Hirschhorn, Joel N., Holloway, John W., Holst, Claus, Horikoshi, Momoko, Kilpeläinen, Tuomas O., Kirin, Mirna, Lakka, Hanna-Maaria, Lange, Leslie A., Lehtimäki, Terho, Lindi, Virpi, Maggi, Reedik, Murray, Jeffrey C., Nohr, Ellen Aagaard, Ntalla, Ioanna, Oken, Emily, Panoutsopoulou, Kalliope, Pararajasingham, Jennifer, Salem, Rany M., Siitonen, Niina, Teo, Yik-Ying, Zeggini, Eleftheria, Cooper, Cyrus, Estivill, Xavier, Gillman, Matthew, Hocher, Berthold, Jarvelin, Marjo-Riitta, Lakka, Timo A., Mohlke, Karen L., Dedoussis, George V., Ong, Ken K., Pearson, Ewan R., Price, Thomas S., Raitakari, Olli T., Saw, Seang-Mei, Scherag, Andre, Simell, Olli, Sørensen, Thorkild I. A. and Wilson, James F. (2012) Common variants at 12q15 and 12q24 are associated with infant head circumference. Nature Genetics, 44 (5). pp. 532-538. ISSN 1061-4036

Neuroscience

St Pourcain, Beate, Cents, Rolieke A. M., Whitehouse, Andrew J. O., Haworth, Claire M. A., Davis, Oliver S. P., O’Reilly, Paul F., Roulstone, Susan, Wren, Yvonne, Ang, Qi W., Velders, Fleur P., Evans, David M., Kemp, John P., Warrington, Nicole M., Miller, Laura, Timpson, Nicholas J., Ring, Susan M., Verhulst, Frank C., Hofman, Albert, Rivadeneira, Fernando, Meaburn, Emma L., Price, Thomas S., Dale, Philip S., Pillas, Demetris, Yliherva, Anneli, Rodriguez, Alina, Golding, Jean, Jaddoe, Vincent W. V., Jarvelin, Marjo-Riitta, Plomin, Robert, Pennell, Craig E., Tiemeier, Henning and Davey Smith, George (2014) Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5 . p. 4831. ISSN 2041-1723

NotOAChecked

Ali, Nadir, Coulson-Thomas, Yvette M., Dixon, Ronald A. and Williams, D. Ross (2014) Genetic variation comparison of 15 autosomal STR loci in an immigrant population living in the UK (British Pakistanis) with an ancestral origin population from Pakistan. Forensic Science International: Genetics, 9 . e10-e12. ISSN 1872-4973

Chauhan, Ganesh, Arnold, Corey R., Chu, Audrey Y., Fornage, Myriam, Reyahi, Azadeh, Bis, Joshua C., Havulinna, Aki S., Sargurupremraj, Muralidharan, Smith, Albert Vernon, Adams, Hieab H. H., Choi, Seung Hoan, Pulit, Sara L., Trompet, Stella, Garcia, Melissa E., Manichaikul, Ani, Teumer, Alexander, Gustafsson, Stefan, Bartz, Traci M., Bellenguez, Céline, Vidal, Jean Sebastien, Jian, Xueqiu, Kjartansson, Olafur, Wiggins, Kerri L., Satizabal, Claudia L., Xue, Flora, Ripatti, Samuli, Liu, Yongmei, Deelen, Joris, den Hoed, Marcel, Bevan, Steve, Hopewell, Jemma C., Malik, Rainer, Heckbert, Susan R., Rice, Kenneth, Smith, Nicholas L., Levi, Christopher, Sharma, Pankaj, Sudlow, Cathie LM, Nik, Ali Moussavi, Cole, John W., Schmidt, Reinhold, Meschia, James, Thijs, Vincent, Lindgren, Arne, Melander, Olle, Grewal, Raji P., Sacco, Ralph L., Rundek, Tatjana, Rothwell, Peter M., Arnett, Donna K., Jern, Christina, Johnson, Julie A., Benavente, Oscar R., Wassertheil-Smoller, Sylvia, Lee, Jin-Moo, Wong, Quenna, Aparicio, Hugo J., Engelter, Stefan T., Kloss, Manja, Leys, Didier, Pezzini, Alessandro, Buring, Julie E., Ridker, Paul M., Berr, Claudine, Dartigues, Jean-François, Hamsten, Anders, Magnusson, Patrik K., Traylor, Matthew, Pedersen, Nancy L., Lannfelt, Lars, Lindgren, Lars, Lindgren, Cecilia M., Morris, Andrew P., Jimenez-Conde, Jordi, Montaner, Joan, Radmanesh, Farid, Slowik, Agnieszka, Woo, Daniel, Hofman, Albert, Koudstaal, Peter J., Portegies, Marileen L. P., Uitterlinden, André G., de Craen, Anton J. M., Ford, Ian, Jukema, J. Wouter, Stott, David J., Allen, Norrina B., Sale, Michele M., Johnson, Andrew D., Bennett, David A., De Jager, Philip L., White, Charles C., Grabe, Hans Jörgen, Markus, Marcello Ricardo Paulista, Schminke, Ulf, Boncoraglio, Giorgio B., Clarke, Robert, Kamatani, Yoichiro, Dallongeville, Jean, Lopez, Oscar L., Rotter, Jerome I., Nalls, Michael A., Gottesman, Rebecca F., Griswold, Michael E., Knopman, David S., Windham, B. Gwen, Beiser, Alexa, Markus, Hugh S., Vartiainen, Erkki, French, Curtis R., Dichgans, Martin, Pastinen, Tomi, Lathrop, Mark, Gudnason, Vilmundur, Kurth, Tobias, Psaty, Bruce M., Harris, Tamara B., Rich, Stephen S., deStefano, Anita L., Schmidt, Carsten Oliver, Worrall, Bradford B., Rosand, Jonathan, Salomaa, Veikko, Mosley, Thomas H., Ingelsson, Erik, van Duijn, Cornelia M., Tzourio, Christophe, Rexrode, Kathryn M., Lehmann, Ordan J., Launer, Lenore J., Ikram, M. Arfan, Carlsson, Peter, Chasman, Daniel I., Childs, Sarah J., Longstreth, William T., Seshadri, Sudha and Debette, Stéphanie (2016) Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies. The Lancet Neurology, 15 (7). pp. 695-707. ISSN 1474-4422

Ehret, Georg B, Ferreira, Teresa, Chasman, Daniel I, Jackson, Anne U, Schmidt, Ellen M, Johnson, Toby, Thorleifsson, Gudmar, Luan, Jian'an, Donnelly, Louise A, Kanoni, Stavroula, Petersen, Ann-Kristin, Pihur, Vasyl, Strawbridge, Rona J, Shungin, Dmitry, Hughes, Maria F, Meirelles, Osorio, Kaakinen, Marika, Bouatia-Naji, Nabila, Kristiansson, Kati, Shah, Sonia, Kleber, Marcus E, Guo, Xiuqing, Lyytikäinen, Leo-Pekka, Fava, Cristiano, Eriksson, Niclas, Nolte, Ilja M, Magnusson, Patrik K, Salfati, Elias L, Rallidis, Loukianos S, Theusch, Elizabeth, Smith, Andrew J P, Folkersen, Lasse, Witkowska, Kate, Pers, Tune H, Joehanes, Roby, Kim, Stuart K, Lataniotis, Lazaros, Jansen, Rick, Johnson, Andrew D, Warren, Helen, Kim, Young Jin, Zhao, Wei, Wu, Ying, Tayo, Bamidele O, Bochud, Murielle, Absher, Devin, Adair, Linda S, Amin, Najaf, Arking, Dan E, Axelsson, Tomas, Baldassarre, Damiano, Balkau, Beverley, Bandinelli, Stefania, Barnes, Michael R, Barroso, Inês, Bevan, Stephen, Bis, Joshua C, Bjornsdottir, Gyda, Boehnke, Michael, Boerwinkle, Eric, Bonnycastle, Lori L, Boomsma, Dorret I, Bornstein, Stefan R, Brown, Morris J, Burnier, Michel, Cabrera, Claudia P, Chambers, John C, Chang, I-Shou, Cheng, Ching-Yu, Chines, Peter S, Chung, Ren-Hua, Collins, Francis S, Connell, John M, Döring, Angela, Dallongeville, Jean, Danesh, John, de Faire, Ulf, Delgado, Graciela, Dominiczak, Anna F, Doney, Alex S F, Drenos, Fotios, Edkins, Sarah, Eicher, John D, Elosua, Roberto, Enroth, Stefan, Erdmann, Jeanette, Eriksson, Per, Esko, Tonu, Evangelou, Evangelos, Evans, Alun, Fall, Tove, Farrall, Martin, Felix, Janine F, Ferrières, Jean, Ferrucci, Luigi, Fornage, Myriam, Forrester, Terrence, Franceschini, Nora, Franco, Oscar H, Franco-Cereceda, Anders, Fraser, Ross M, Ganesh, Santhi K, Gao, He, Gertow, Karl, Gianfagna, Francesco, Gigante, Bruna, Giulianini, Franco, Goel, Anuj, Goodall, Alison H, Goodarzi, Mark O, Gorski, Mathias, Gräßler, Jürgen, Groves, Christopher J, Gudnason, Vilmundur, Gyllensten, Ulf, Hallmans, Göran, Hartikainen, Anna-Liisa, Hassinen, Maija, Havulinna, Aki S, Hayward, Caroline, Hercberg, Serge, Herzig, Karl-Heinz, Hicks, Andrew A, Hingorani, Aroon D, Hirschhorn, Joel N, Hofman, Albert, Holmen, Jostein, Holmen, Oddgeir Lingaas, Hottenga, Jouke-Jan, Howard, Phil, Hsiung, Chao A, Hunt, Steven C, Ikram, M Arfan, Illig, Thomas, Iribarren, Carlos, Jensen, Richard A, Kähönen, Mika, Kang, Hyun Min, Kathiresan, Sekar, Keating, Brendan J, Khaw, Kay-Tee, Kim, Yun Kyoung, Kim, Eric, Kivimaki, Mika, Klopp, Norman, Kolovou, Genovefa, Komulainen, Pirjo, Kooner, Jaspal S, Kosova, Gulum, Krauss, Ronald M, Kuh, Diana, Kutalik, Zoltan, Kuusisto, Johanna, Kvaløy, Kirsti, Lakka, Timo A, Lee, Nanette R, Lee, I-Te, Lee, Wen-Jane, Levy, Daniel, Li, Xiaohui, Liang, Kae-Woei, Lin, Honghuang, Lin, Li, Lindström, Jaana, Lobbens, Stéphane, Männistö, Satu, Müller, Gabriele, Müller-Nurasyid, Martina, Mach, François, Markus, Hugh S, Marouli, Eirini, McCarthy, Mark I, McKenzie, Colin A, Meneton, Pierre, Menni, Cristina, Metspalu, Andres, Mijatovic, Vladan, Moilanen, Leena, Montasser, May E, Morris, Andrew D, Morrison, Alanna C, Mulas, Antonella, Nagaraja, Ramaiah, Narisu, Narisu, Nikus, Kjell, O'Donnell, Christopher J, O'Reilly, Paul F, Ong, Ken K, Paccaud, Fred, Palmer, Cameron D, Parsa, Afshin, Pedersen, Nancy L, Penninx, Brenda W, Perola, Markus, Peters, Annette, Poulter, Neil, Pramstaller, Peter P, Psaty, Bruce M, Quertermous, Thomas, Rao, Dabeeru C, Rasheed, Asif, Rayner, N William, Renström, Frida, Rettig, Rainer, Rice, Kenneth M, Roberts, Robert, Rose, Lynda M, Rossouw, Jacques, Samani, Nilesh J, Sanna, Serena, Saramies, Jouko, Schunkert, Heribert, Sebert, Sylvain, Sheu, Wayne H-H, Shin, Young-Ah, Sim, Xueling, Smit, Johannes H, Smith, Albert V, Sosa, Maria X, Spector, Tim D, Stančáková, Alena, Stanton, Alice V, Stirrups, Kathleen E, Stringham, Heather M, Sundstrom, Johan, Swift, Amy J, Syvänen, Ann-Christine, Tai, E-Shyong, Tanaka, Toshiko, Tarasov, Kirill V, Teumer, Alexander, Thorsteinsdottir, Unnur, Tobin, Martin D, Tremoli, Elena, Uitterlinden, Andre G, Uusitupa, Matti, Vaez, Ahmad, Vaidya, Dhananjay, van Duijn, Cornelia M, van Iperen, Erik P A, Vasan, Ramachandran S, Verwoert, Germaine C, Virtamo, Jarmo, Vitart, Veronique, Voight, Benjamin F, Vollenweider, Peter, Wagner, Aline, Wain, Louise V, Wareham, Nicholas J, Watkins, Hugh, Weder, Alan B, Westra, Harm-Jan, Wilks, Rainford, Wilsgaard, Tom, Wilson, James F, Wong, Tien Y, Yang, Tsun-Po, Yao, Jie, Yengo, Loic, Zhang, Weihua, Zhao, Jing Hua, Zhu, Xiaofeng, Bovet, Pascal, Cooper, Richard S, Mohlke, Karen L, Saleheen, Danish, Lee, Jong-Young, Elliott, Paul, Gierman, Hinco J, Willer, Cristen J, Franke, Lude, Hovingh, G Kees, Taylor, Kent D, Dedoussis, George, Sever, Peter, Wong, Andrew, Lind, Lars, Assimes, Themistocles L, Njølstad, Inger, Schwarz, Peter E H, Langenberg, Claudia, Snieder, Harold, Caulfield, Mark J, Melander, Olle, Laakso, Markku, Saltevo, Juha, Rauramaa, Rainer, Tuomilehto, Jaakko, Ingelsson, Erik, Lehtimäki, Terho, Hveem, Kristian, Palmas, Walter, März, Winfried, Kumari, Meena, Salomaa, Veikko, Chen, Yii-Der I, Rotter, Jerome I, Froguel, Philippe, Jarvelin, Marjo-Riitta, Lakatta, Edward G, Kuulasmaa, Kari, Franks, Paul W, Hamsten, Anders, Wichmann, H-Erich, Palmer, Colin N A, Stefansson, Kari, Ridker, Paul M, Loos, Ruth J F, Chakravarti, Aravinda, Deloukas, Panos, Morris, Andrew P, Newton-Cheh, Christopher and Munroe, Patricia B (2016) The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nature Genetics, 48 (10). pp. 1171-1184. ISSN 1061-4036

Harris, Sarah E., Malik, Rainer, Marioni, Riccardo, Campbell, Archie, Seshadri, Sudha, Worrall, Bradford B., Sudlow, Cathie L.M., Hayward, Caroline, Bastin, Mark E., Starr, John M., Porteous, David J., Wardlaw, Joanna M., Deary, Ian J. and UNSPECIFIED (2016) Polygenic risk of ischemic stroke is associated with cognitive ability. Neurology, 86 (7). pp. 611-618. ISSN 0028-3878

Malik, Rainer, Traylor, Matthew, Pulit, Sara L., Bevan, Steve, Hopewell, Jemma C., Holliday, Elizabeth G., Zhao, Wei, Abrantes, Patricia, Amouyel, Philippe, Attia, John R., Battey, Thomas W.K., Berger, Klaus, Boncoraglio, Giorgio B., Chauhan, Ganesh, Cheng, Yu-Ching, Chen, Wei-Min, Clarke, Robert, Cotlarciuc, Ioana, Debette, Stephanie, Falcone, Guido J., Ferro, Jose M., Gamble, Dale M., Ilinca, Andreea, Kittner, Steven J., Kourkoulis, Christina E., Lemmens, Robin, Levi, Christopher R., Lichtner, Peter, Lindgren, Arne, Liu, Jingmin, Meschia, James F., Mitchell, Braxton D., Oliveira, Sofia A., Pera, Joana, Reiner, Alex P., Rothwell, Peter M., Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L.M., Tatlisumak, Turgut, Thijs, Vincent, Vicente, Astrid M., Woo, Daniel, Seshadri, Sudha, Saleheen, Danish, Rosand, Jonathan, Markus, Hugh S., Worrall, Bradford B. and Dichgans, Martin (2016) Low-frequency and common genetic variation in ischemic stroke. Neurology, 86 (13). pp. 1217-1226. ISSN 0028-3878

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Pulit, Sara L., McArdle, Patrick F., Wong, Quenna, Malik, Rainer, Gwinn, Katrina, Achterberg, Sefanja, Algra, Ale, Amouyel, Philippe, Anderson, Christopher D., Arnett, Donna K., Arsava, Ethem Murat, Attia, John, Ay, Hakan, Bartz, Traci M., Battey, Thomas, Benavente, Oscar R., Bevan, Steve, Biffi, Alessandro, Bis, Joshua C., Blanton, Susan H., Boncoraglio, Giorgio B., Brown, Robert D., Burgess, Annette I., Carrera, Caty, Chapman Smith, Sherita N., Chasman, Daniel I., Chauhan, Ganesh, Chen, Wei-Min, Cheng, Yu-Ching, Chong, Michael, Cloonan, Lisa K., Cole, John W., Cotlarciuc, Ioana, Cruchaga, Carlos, Cuadrado-Godia, Elisa, Dave, Tushar, Dawson, Jesse, Debette, Stéphanie, Delavaran, Hossein, Dell, Cameron A., Dichgans, Martin, Doheny, Kimberly F., Dong, Chuanhui, Duggan, David J., Engström, Gunnar, Evans, Michele K., Pallejà, Xavier Estivill, Faul, Jessica D., Fernández-Cadenas, Israel, Fornage, Myriam, Frossard, Philippe M., Furie, Karen, Gamble, Dale M., Gieger, Christian, Giese, Anne-Katrin, Giralt-Steinhauer, Eva, González, Hector M., Goris, An, Gretarsdottir, Solveig, Grewal, Raji P., Grittner, Ulrike, Gustafsson, Stefan, Han, Buhm, Hankey, Graeme J., Heitsch, Laura, Higgins, Peter, Hochberg, Marc C., Holliday, Elizabeth, Hopewell, Jemma C., Horenstein, Richard B., Howard, George, Ikram, M. Arfan, Ilinca, Andreea, Ingelsson, Erik, Irvin, Marguerite R., Jackson, Rebecca D., Jern, Christina, Conde, Jordi Jiménez, Johnson, Julie A., Jood, Katarina, Kahn, Muhammad S., Kaplan, Robert, Kappelle, L Jaap, Kardia, Sharon L. R., Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Koblar, Simon, Labovitz, Daniel, Launer, Lenore J., Laurie, Cathy C., Laurie, Cecelia A., Lee, Cue Hyunkyu, Lee, Jin-Moo, Lehm, Manuel, Lemmens, Robin, Levi, Christopher, Leys, Didier, Lindgren, Arne, Longstreth, W. T., Maguire, Jane, Manichaikul, Ani, Markus, Hugh S., McClure, Leslie A., McDonough, Caitrin W., Meisinger, Christa, Melander, Olle, Meschia, James F., Mola-Caminal, Marina, Montaner, Joan, Mosley, Thomas H., Müller-Nurasyid, Martina, Nalls, Mike A., O'Connell, Jeffrey R., O'Donnell, Martin, Ois, ángel, Papanicolaou, George J., Paré, Guillaume, Peddareddygari, Leema Reddy, Pedersén, Annie, Pera, Joanna, Peters, Annette, Poole, Deborah, Psaty, Bruce M., Rabionet, Raquel, Raffeld, Miriam R., Rannikmäe, Kristiina, Rasheed, Asif, Redfors, Petra, Reiner, Alex P., Rexrode, Kathryn, Ribasés, Marta, Rich, Stephen S., Robberecht, Wim, Rodriguez-Campello, Ana, Rolfs, Arndt, Roquer, Jaume, Rose, Lynda M., Rosenbaum, Daniel, Rost, Natalia S., Rothwell, Peter M., Rundek, Tatjana, Ryan, Kathleen A., Sacco, Ralph L., Sale, Michèle M., Saleheen, Danish, Salomaa, Veikko, Sánchez-Mora, Cristina, Schmidt, Carsten Oliver, Schmidt, Helena, Schmidt, Reinhold, Schürks, Markus, Scott, Rodney, Segal, Helen C., Seiler, Stephan, Seshadri, Sudha, Sharma, Pankaj, Shuldiner, Alan R., Silver, Brian, Slowik, Agnieszka, Smith, Jennifer A., Söderholm, Martin, Soriano, Carolina, Sparks, Mary J., Stanne, Tara, Stefansson, Kari, Stine, O. Colin, Strauch, Konstantin, Sturm, Jonathan, Sudlow, Cathie L. M., Tajuddin, Salman M., Talbert, Robert L., Tatlisumak, Turgut, Thijs, Vincent, Thorleifsson, Gudmar, Thorsteindottir, Unnur, Tiedt, Steffen, Traylor, Matthew, Trompet, Stella, Valant, Valerie, Waldenberger, Melanie, Walters, Matthew, Wang, Liyong, Wassertheil-Smoller, Sylvia, Weir, David R., Wiggins, Kerri L., Williams, Stephen R., Wloch-Kopec, Dorota, Woo, Daniel, Woodfield, Rebecca, Wu, Ona, Xu, Huichun, Zonderman, Alan B., Worrall, Bradford B., de Bakker, Paul I. W., Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Mitchell, Braxton D., Ay, Hakan, Gwinn, Katrina, Kittner, Steven J., Lindgren, Arne, Meschia, James F., Pulit, Sara L., Sudlow, Cathie L. M., Thijs, Vincent, Woo, Daniel, Worrall, Bradford B. Worrall, Arnett, Donna K. Arnett, Benavente, Oscar, Cole, John W., Dichgans, Martin, Grewal, Raji P., Jern, Christina, Conde, Jordi Jiménez, Johnson, Julie A., Kittner, Steven J., Lee, Jin-Moo, Levi, Christopher, Lindgren, Arne, Markus, Hugh S., Melander, Olle, Meschia, James F., Rexrode, Kathryn, Rosand, Jonathan, Rothwell, Peter M., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Reinhold, Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Thijs, Vincent, Wasssertheil-Smoller, Sylvia, Woo, Daniel and Worrall, Bradford B. (2016) Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study. The Lancet Neurology, 15 (2). pp. 174-184. ISSN 1474-4422

Rutten-Jacobs, Loes C. A., Traylor, Matthew, Adib-Samii, Poneh, Thijs, Vincent, Sudlow, Cathie, Rothwell, Peter M., Boncoraglio, Giorgio, Dichgans, Martin, Meschia, James, Maguire, Jane, Levi, Christopher, Rost, Natalia S., Rosand, Jonathan, Hassan, Ahamad, Bevan, Steve and Markus, Hugh S. (2016) Association of MTHFRC677T genotype With ischemic stroke Is confined to cerebral small vessel disease subtype. Stroke (47). pp. 646-651. ISSN 0039-2499

Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S. V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, M. Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D. and Trembath, Richard C. (2015) Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver Syndrome with variable cardiac anomalies. Circulation: Cardiovascular genetics, 8 (4). ISSN 1942-325X

Traylor, Matthew, Anderson, Christopher D., Hurford, Robert, Bevan, Steve and Markus, Hugh S. (2016) Oxidative phosphorylation and lacunar stroke. Neurology, 86 (2). pp. 141-145. ISSN 0028-3878

Traylor, Matthew, Zhang, Cathy R., Adib-Samii, Poneh, Devan, William J., Parsons, Owen E., Lanfranconi, Silvia, Gregory, Sarah, Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Barrick, Thomas R., Moynihan, Barry, Lewis, Cathryn M., Boncoraglio, Giorgio B., Lemmens, Robin, Thijs, Vincent, Sudlow, Cathie, Wardlaw, Joanna, Rothwell, Peter M., Meschia, James F., Worrall, Bradford B., Levi, Christopher, Bevan, Steve, Furie, Karen L., Dichgans, Martin, Rosand, Jonathan, Markus, Hugh S. and Rost, Natalia (2016) Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology, 86 (2). pp. 146-153. ISSN 0028-3878

Odds Ratio

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

Open Reading Frames

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

P-Glycoprotein

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

PCA gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

PICH

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

PPIA gene

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

PTPN22 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Pakistan

Ali, Nadir, Coulson-Thomas, Yvette M., Norton, Andrew L., Dixon, Ronald A. and Williams, D. Ross (2013) Announcement of population data: genetic data for 17 Y-STR AmpFℓSTR® Yfiler™ markers from an immigrant Pakistani population in the UK (British Pakistanis). Forensic Science International: Genetics, 7 (2). e40-e42. ISSN 1872-4973

Pancreas transplantation

Duff, Claire E. and Simmonds, Matthew J. (2017) Genetic predictors of long-term graft function in kidney and pancreas transplant patients. Briefings in Functional Genomics . elw039. ISSN 2041-2649

Parafibromin

Herr, Patrick, Lundin, Cecilia, Evers, Bastiaan, Ebner, Daniel, Bauerschmidt, Christina, Kingham, Guy, Palmai-Pallag, Timea, Mortusewicz, Oliver, Frings, Oliver, Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

Persistence

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Phenotype

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Physical Chromosome Mapping

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Polymerase Chain Reaction

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Polymorphism, Genetic

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Polymorphism, Restriction Fragment Length

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Polymorphism, Single Nucleotide

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Population

Ali, Nadir, Coulson-Thomas, Yvette M., Dixon, Ronald A. and Williams, D. Ross (2014) Genetic variation comparison of 15 autosomal STR loci in an immigrant population living in the UK (British Pakistanis) with an ancestral origin population from Pakistan. Forensic Science International: Genetics, 9 . e10-e12. ISSN 1872-4973

Pregnancy

Rodriguez, Alina, Karhunen, Ville, Richmond, Rebecca, Rodriguez, Alina, De Silva, Maneka, Wielscher, Matthias, Rezwan, Faisal, Richardson, Tom, Veijola, Juha, Heinz-Herzig, Karl, Holloway, John, Relton, Caroline, Sebert, Sylvain and Järvelin, Marjo-Riitta (2019) DNA methylation links prenatal smoking exposure to later life health outcomes in offspring. Clinical Epigenetics, 11 (1). ISSN 1868-7075

Protein Tyrosine Phosphatase, Non-Receptor Type 22

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Protein Tyrosine Phosphatases

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Protein-Tyrosine-Phosphatase

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Quantitative Trait Loci

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

RAD51

Herr, Patrick, Lundin, Cecilia, Evers, Bastiaan, Ebner, Daniel, Bauerschmidt, Christina, Kingham, Guy, Palmai-Pallag, Timea, Mortusewicz, Oliver, Frings, Oliver, Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

RASGRP1 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Receptors, Cell Surface

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Receptors, IgG

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Receptors, Immunologic

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Receptors, Steroid

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Receptors, Thyrotropin

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Reference Values

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Regression Analysis

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Risk

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Risk Factors

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

SH2B3 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

SIAE gene

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

SRY gene

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

STAT4 gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

SUMO protein

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Sample Size, Europe

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Sequence Analysis, DNA

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Sex Distribution

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Stroke

Harris, Sarah E., Malik, Rainer, Marioni, Riccardo, Campbell, Archie, Seshadri, Sudha, Worrall, Bradford B., Sudlow, Cathie L.M., Hayward, Caroline, Bastin, Mark E., Starr, John M., Porteous, David J., Wardlaw, Joanna M., Deary, Ian J. and UNSPECIFIED (2016) Polygenic risk of ischemic stroke is associated with cognitive ability. Neurology, 86 (7). pp. 611-618. ISSN 0028-3878

Kilarski, Laura L., Rutten-Jacobs, Loes C. A., Bevan, Stephen, Baker, Rob, Hassan, Ahamad, Hughes, Derralynn A. and Markus, Hugh S. (2015) Prevalence of CADASIL and Fabry disease in a cohort of MRI defined younger onset lacunar stroke. PloS one, 10 (8). e0136352. ISSN 1932-6203

Traylor, Matthew, Anderson, Christopher D., Hurford, Robert, Bevan, Steve and Markus, Hugh S. (2016) Oxidative phosphorylation and lacunar stroke. Neurology, 86 (2). pp. 141-145. ISSN 0028-3878

Traylor, Matthew, Bevan, Stephen, Baron, Jean-Claude, Hassan, Ahamad, Lewis, Cathryn M. and Markus, Hugh S. (2015) Genetic architecture of lacunar stroke. Stroke; a journal of cerebral circulation, 46 (9). pp. 2407-2412. ISSN 0039-2499

Traylor, Matthew, Zhang, Cathy R., Adib-Samii, Poneh, Devan, William J., Parsons, Owen E., Lanfranconi, Silvia, Gregory, Sarah, Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Barrick, Thomas R., Moynihan, Barry, Lewis, Cathryn M., Boncoraglio, Giorgio B., Lemmens, Robin, Thijs, Vincent, Sudlow, Cathie, Wardlaw, Joanna, Rothwell, Peter M., Meschia, James F., Worrall, Bradford B., Levi, Christopher, Bevan, Steve, Furie, Karen L., Dichgans, Martin, Rosand, Jonathan, Markus, Hugh S. and Rost, Natalia (2016) Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke. Neurology, 86 (2). pp. 146-153. ISSN 0028-3878

Susceptibility Loci

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

T lymphocyte

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

T lymphocyte, Case-Control Studies

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

TEKT1 gene

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

TPO gene

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

TSHR gene, Autoimmune Diseases

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Taq polymerase

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Tg gene

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Thyroid

Hamilton, Alexander, Gough, Stephen C. L. and Simmonds, Matthew J. (2013) Genetics of Graves’ disease. In: eLS - Encyclopedia of Life Sciences. Wiley. ISBN 9780470015902

Thyroid Diseases

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Tissue Donors

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Topoisomerase II

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

Transcription Factors

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Translocations

Gribble, S. M., Prigmore, E., Burford, D. C., Porter, K. M., Nq, B. L., Douglas, E. J., Fiegler, H. C., Carr, P., Kalaitzopoulos, D., Clegg, S., Sandstrom, R., Temple, I. K., Youings, S. I., Thomas, N. S., Dennis, N. R., Jacobs, P. A., Crolla, J. A. and Carter, N. P. (2005) The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. Journal of Medical Genetics, 42 (1). pp. 8-16. ISSN 0022-2593

Transplantation, Homologous

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Treatment Failure

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Trinucleotide Repeats

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

Tumor Necrosis Factor-alpha

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Type 1 Diabetes

Duff, Claire E. and Simmonds, Matthew J. (2017) Genetic predictors of long-term graft function in kidney and pancreas transplant patients. Briefings in Functional Genomics . elw039. ISSN 2041-2649

Type 1 diabetes

Simmonds, Matthew and Gough, Stephen (2018) 1.6: Genetic Endocrine Disorders. In: Oxford Desk Reference: Endocrinology. Oxford University Press. ISBN 9780199672837

UBASH3A gene

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

UFBs

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

UNESCO

Langlois, Adele (2017) The global governance of human cloning: the case of UNESCO. Palgrave Communications, 3 (17019). ISSN 2055-1045

Langlois, Adele (2006) The governance of genomic information: will it come of age? Genomics, Society and Policy, 2 (3). pp. 49-63. ISSN UNSPECIFIED

UTX gene, Genome-Wide Association Study

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

United Kingdom

Ali, Nadir, Coulson-Thomas, Yvette M., Norton, Andrew L., Dixon, Ronald A. and Williams, D. Ross (2013) Announcement of population data: genetic data for 17 Y-STR AmpFℓSTR® Yfiler™ markers from an immigrant Pakistani population in the UK (British Pakistanis). Forensic Science International: Genetics, 7 (2). e40-e42. ISSN 1872-4973

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

United Kingdom, Adaptor Proteins, Signal Transducing

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

United Kingdom, Adolescent

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

United Kingdom, Adult

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

United Kingdom, Alleles

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

United Kingdom, Autoantibodies

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Utopia

Hudson, John (2011) All watched over by machines of loving grace: part 3 "The monkey in the machine and the machine in the monkey". Digital Imaging and Photography . ISSN UNSPECIFIED

Variation

Malik, Rainer, Dau, Therese, Gonik, Maria, Sivakumar, Anirudh, Deredge, Daniel J., Edeleva, Evgeniia V., Götzfried, Jessica, van der Laan, Sander W., Pasterkamp, Gerard, Beaufort, Nathalie, Seixas, Susana, Bevan, Stephen, Lincz, Lisa F., Holliday, Elizabeth G., Burgess, Annette I., Rannikmäe, Kristiina, Minnerup, Jens, Kriebel, Jennifer, Waldenberger, Melanie, Müller-Nurasyid, Martina, Lichtner, Peter, Saleheen, Danish, Rothwell, Peter M., Levi, Christopher, Attia, John, Sudlow, Cathie L. M., Braun, Dieter, Markus, Hugh S., Wintrode, Patrick L., Berger, Klaus, Jenne, Dieter E. and Dichgans, Martin (2017) Common coding variant inSERPINA1increases the risk for large artery stroke. Proceedings of the National Academy of Sciences, 114 (14). pp. 3613-3618. ISSN 1091-6490

X chromosome

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

X chromosome inactivation

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

acetylesterase

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

adiposity

Rodriguez, Alina (2019) GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child and adult BMI. Science Advances, 5 (9). ISSN 2375-2548

adult

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

aged

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

alanine

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

allele

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

allotransplantation

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

alpha 1 antitrypsin

Malik, Rainer, Dau, Therese, Gonik, Maria, Sivakumar, Anirudh, Deredge, Daniel J., Edeleva, Evgeniia V., Götzfried, Jessica, van der Laan, Sander W., Pasterkamp, Gerard, Beaufort, Nathalie, Seixas, Susana, Bevan, Stephen, Lincz, Lisa F., Holliday, Elizabeth G., Burgess, Annette I., Rannikmäe, Kristiina, Minnerup, Jens, Kriebel, Jennifer, Waldenberger, Melanie, Müller-Nurasyid, Martina, Lichtner, Peter, Saleheen, Danish, Rothwell, Peter M., Levi, Christopher, Attia, John, Sudlow, Cathie L. M., Braun, Dieter, Markus, Hugh S., Wintrode, Patrick L., Berger, Klaus, Jenne, Dieter E. and Dichgans, Martin (2017) Common coding variant inSERPINA1increases the risk for large artery stroke. Proceedings of the National Academy of Sciences, 114 (14). pp. 3613-3618. ISSN 1091-6490

amelogenin

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

analytic method

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

anamnesis

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

ankylosing spondylitis

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

antibody blood level

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

antibody response

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

antigen function

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

antigen presentation

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

article

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

autoantibody

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

autoimmune disease

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

autoimmune regulator protein

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

autoimmune regulator protein 1

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

autoimmune thyroid disease

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Simmonds, Matthew and Gough, Stephen (2018) Chapter 1.5 Autoimmunity and the Endocrine System. In: Oxford Desk Reference: Endocrinology. Oxford Univeristy Press. ISBN 9780199672837

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

autoimmune thyroiditis

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

autoimmunity

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Simmonds, Matthew and Gough, Stephen (2018) Chapter 1.5 Autoimmunity and the Endocrine System. In: Oxford Desk Reference: Endocrinology. Oxford Univeristy Press. ISBN 9780199672837

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

azathioprine

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

bacterial infection

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

binding site

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

biogenetics

Davy, Zowie (2012) Differences in sexual development: towards a phenomenological understanding of gender variance. In: Controversies and Confrontations: Violence and Agency, 6-7 December 2012, University of Vienna, Austria.

blood group ABO system

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

bmjgoldcheck

Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S. V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, M. Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D. and Trembath, Richard C. (2015) Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver Syndrome with variable cardiac anomalies. Circulation: Cardiovascular genetics, 8 (4). ISSN 1942-325X

body mass

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

body mass index (BMI)

Rodriguez, Alina (2019) GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child and adult BMI. Science Advances, 5 (9). ISSN 2375-2548

cadaver kidney

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

cancer risk

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

cardiovascular magnetic resonance

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

case control study

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

caveolin 1

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

caveolin 1, adult

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

celiac disease

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

cell antigen

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

cell line

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

cell surface

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

cellular senescence

Xing, Meichun, Wang, Xiaohui, Palmai-Pallag, Timea, Shen, Huahao, Helleday, Thomas, Hickson, Ian D. and Ying, Songmin (2015) Acute MUS81 depletion leads to replication fork slowing and a constitutive DNA damage response. Oncotarget, 6 (35). pp. 37638-37646. ISSN 1949-2553

child

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

childhood traits and disorders

Middeldorp, Christel, Felix, Janine, Rodriguez, Alina, Mahajan, Anubha, EArly Genetics Lifecourse Epidemiology (EAGLE) consortium, , Early Growth Genetics (EGG) consortium, and McCarthy, Mark (2019) The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortia: design, results and future prospects. European Journal of Epidemiology, 34 (3). pp. 279-300. ISSN 0393-2990

cholesterol

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

cholesterol blood level

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

chromatin remodeling

Herr, Patrick, Lundin, Cecilia, Evers, Bastiaan, Ebner, Daniel, Bauerschmidt, Christina, Kingham, Guy, Palmai-Pallag, Timea, Mortusewicz, Oliver, Frings, Oliver, Sonnhammer, Erik and Helleday, Thomas (2015) A genome-wide IR-induced RAD51 foci RNAi screen identifies CDC73 involved in chromatin remodeling for DNA repair. Cell Discovery . p. 15034. ISSN 2056-5968

chromosome

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

chromosome 1

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

chromosome 14q

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

chromosome 18q

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

chromosome 20q

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

chromosome 2q

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

chromosome 9

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

chromosome 9q

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

chromosome aberration

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

chromosome deletion X

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

chromosome deletion Y

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

chromosome identification

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

chromosome instability

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

chromosome missegregation

Nielsen, Christian F., Huttner, Diana, Bizard, Anna H., Hirano, Seiki, Li, Tian-Neng, Palmai-Pallag, Timea, Bjerregaard, Victoria A., Liu, Ying, Nigg, Erich A., Wang, Lily Hui-Ching and Hickson, Ian D. (2015) PICH promotes sister chromatid disjunction and co-operates with topoisomerase II in mitosis. Nature Communications, 6 . p. 8962. ISSN 2041-1723

chronic kidney disease

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

cohort analysis

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

comparative study

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

complementary DNA

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

confidence interval

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

congenital

Southgate, Laura, Sukalo, Maja, Karountzos, Anastasios S. V., Taylor, Edward J., Collinson, Claire S., Ruddy, Deborah, Snape, Katie M., Dallapiccola, Bruno, Tolmie, John L., Joss, Shelagh, Brancati, Francesco, Digilio, M. Cristina, Graul-Neumann, Luitgard M., Salviati, Leonardo, Coerdt, Wiltrud, Jacquemin, Emmanuel, Wuyts, Wim, Zenker, Martin, Machado, Rajiv D. and Trembath, Richard C. (2015) Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver Syndrome with variable cardiac anomalies. Circulation: Cardiovascular genetics, 8 (4). ISSN 1942-325X

consortium

Middeldorp, Christel, Felix, Janine, Rodriguez, Alina, Mahajan, Anubha, EArly Genetics Lifecourse Epidemiology (EAGLE) consortium, , Early Growth Genetics (EGG) consortium, and McCarthy, Mark (2019) The Early Growth Genetics (EGG) and EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortia: design, results and future prospects. European Journal of Epidemiology, 34 (3). pp. 279-300. ISSN 0393-2990

controlled study

Brand, O. J., Barrett, J. C., Simmonds, M. J., Newby, P. R., McCabe, C. J., Bruce, C. K., Kysela, B., Carr-Smith, J. D., Brix, T., Hunt, P. J., Wiersinga, W. M., Hegedus, L., Connell, J., Wass, J. A. H., Franklyn, J. A., Weetman, A. P., Heward, J. M. and Gough, S. C. L. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18 (9). pp. 1704-1713. ISSN 0964-6906

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Heward, J. M., Simmonds, M. J., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2004) A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians. Clinical Endocrinology, 61 (2). pp. 269-272. ISSN 0300-0664

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Simmonds, M. J., Heward, J.M., Howson, J.M.M., Foxall, H., Nithiyananthan, R., Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Simmonds, Matthew J., Heward, J. M., Carr-Smith, J., Foxall, H., Franklyn, J. A. and Gough, S. C. L. (2006) Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. Journal of Clinical Endocrinology and Metabolism, 91 (3). pp. 1056-1061. ISSN 0021-972X

Simmonds, Matthew J., Howson, Joanna M. M., Heward, Joanne M., Cordell, Heather J., Foxall, Helen, Carr-Smith, Jackie, Gibson, Sarah M., Walker, Neil, Tomer, Yaron, Franklyn, Jayne A., Todd, John A. and Gough, Stephen C. L. (2005) Regression mapping of association between the human leukocyte antigen region and Graves' disease. American Journal of Human Genetics, 76 (1). pp. 157-163. ISSN 0002-9297

Todd, J. A., Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tırgoviste, C., Genetics of T1D in Finland, ., Simmonds, M. J., Heward, J. M., Gough, S. C. L., WTCCC, ., Dunger, D. B., Wicker, L. S. and Clayton, D. G. (2007) Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genetics, 39 (7). pp. 857-864. ISSN 1061-4036

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

copy number variation

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

cyclophilin

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

cytochrome P450 3A4

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

cytochrome P450 3A5

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

cytotoxic T lymphocyte antigen 4

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

deoxyribonuclease I, autoimmune disease

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

development

Rodriguez, Alina (2019) GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child and adult BMI. Science Advances, 5 (9). ISSN 2375-2548

diagnostic equipment

Ali, Nadir, Coulson-Thomas, Yvette M., Norton, Andrew L., Dixon, Ronald A. and Williams, D. Ross (2013) Announcement of population data: genetic data for 17 Y-STR AmpFℓSTR® Yfiler™ markers from an immigrant Pakistani population in the UK (British Pakistanis). Forensic Science International: Genetics, 7 (2). e40-e42. ISSN 1872-4973

dialysis

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

digital

Hudson, John (2011) All watched over by machines of loving grace: part 3 "The monkey in the machine and the machine in the monkey". Digital Imaging and Photography . ISSN UNSPECIFIED

disease association

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) IL-13 and chromosome 5q31-q33: problems of identifying association within regions of linkage to Graves' disease. Clinical Endocrinology, 63 (6). pp. 695-697. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

disease classification

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

disease course

Gough, S .C. L. and Simmonds, Matthew J. (2007) The HLA region and autoimmune disease: associations and mechanisms of action. Current Genomics, 8 (7). pp. 453-465. ISSN 1389-2029

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

Yesmin, K., Hargreaves, C., Newby, P. R., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2010) Association of FcGRIIa with Graves' disease: a potential role for dysregulated autoantibody clearance in disease onset/progression. Clinical Endocrinology, 73 (1). pp. 119-125. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Newby, P. R., Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

disease incidence

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

disease model

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

disease predisposition

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

donor

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

drug design

Simmonds, Matthew and Gough, S. C. L. (2005) Genetic insights into disease mechanisms of autoimmunity. British Medical Bulletin, 71 (1). pp. 93-113. ISSN 0007-1420

endocrinology

Simmonds, Matthew and Gough, Stephen (2018) Chapter 1.5 Autoimmunity and the Endocrine System. In: Oxford Desk Reference: Endocrinology. Oxford Univeristy Press. ISBN 9780199672837

endothelial nitric oxide synthase, adult

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

environmental factor

Simmonds, M. J. and Gough, S. C. L. (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clinical and Experimental Immunology, 136 (1). pp. 1-10. ISSN 0009-9104

enzyme activity

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

epigenetics

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

ethnic difference

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) The search for the genetic contribution to autoimmune thyroid disease: The never ending story? Briefings in Functional Genomics, 10 (2). pp. 77-90. ISSN 2041-2649

ethnology

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

exon

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Hunt, K. A., Mistry, V., Bockett, N. A., Ahmad, T., Ban, M., Barker, J. N., Barrett, J. C., Blackburn, H., Brand, O. J., Burren, O., Capon, F., Compston, A., Gough, S. C. L., Jostins, L., Kong, Y., Lee, J. C., Lek, M., MacArthur, D. G., Mansfield, J. C., Mathew, C. G., Mein, C. A., Mirza, M., Nutland, S., Onengut-Gumuscu, S., Papouli, E., Parkes, M., Rich, S. S., Sawcer, S., Satsangi, J., Simmonds, M. J., Trembath, R. C., Walker, N. M., Wozniak, E., Todd, J. A., Simpson, M. A., Plagnol, V. and van Heel, D. A. (2013) Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature, 498 (7453). pp. 232-235. ISSN 0028-0836

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

female

Boelaert, Kristien, Newby, Paul R., Simmonds, Matthew J., Holder, Roger L., Carr-Smith, Jacqueline D., Heward, Joanne M., Manji, Nilusha, Allahabadia, Amit, Armitage, Mary, Chatterjee, Krishna V., Lazarus, John H., Pearce, Simon H., Vaidya, Bijay, Gough, Stephen C. and Franklyn, Jayne A. (2010) Prevalence and relative risk of other autoimmune diseases in subjects with autoimmune thyroid disease. American Journal of Medicine, 123 (2). 183.e1-183.e9. ISSN 0002-9343

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

Chand, S., Holle, J. U., Hilhorst, M., Simmonds, M. J., Smith, S., Kamesh, L., Hewins, P., McKnight, A. J., Maxwell, A. P., Willem Cohen Tervaert, J., Wieczorek, S., Harper, L. and Borrows, R. (2013) Caveolin-1 single nucleotide polymorphism in antineutrophil cytoplasmic antibody associated vasculitis. PLoS ONE, 8 (7). ISSN 1932-6203

Cooper, J. D., Simmonds, M. J., Walker, N.M., Burren, O., Brand, O.J., Guo, H., Wallace, C., Stevens, H., Coleman, G, Franklyn, J.A., Todd, J.A. and Gough, S.C.L. (2012) Seven newly identified loci for autoimmune thyroid disease. Human Molecular Genetics, 21 (23). pp. 5202-5208. ISSN 0964-6906

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

Hafler, J. P., Maier, L. M., Cooper, J. D., Plagnol, V., Hinks, A., Simmonds, M. J., Stevens, H., Walker, N., Healy, B., Howson, J. M. M., Maisuria, M., Duley, S., Coleman, G., Gough, S. C. L., Worthington, J., Kuchroo, V. K., Wicker, L. S., Todd, J. A. and IMSGC, . (2009) CD226 Gly307Ser association with multiple autoimmune diseases. Genes and Immunity, 10 (1). pp. 5-10. ISSN 1466-4879

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Simmonds, M. J., Howson, J. M. M., Heward, J. M., Carr-Smith, J., Franklyn, J. A., Todd, J. A. and Gough, S. C. L. (2007) A novel and major association of HLA-C in Graves' disease that eclipses the classical HLA-DRB1 effect. Human Molecular Genetics, 16 (18). pp. 2149-2153. ISSN 0964-6906

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

Simmonds, Matthew J., Heward, Joanne M., Kelly, M. Ann, Allahabadia, Amit, Foxall, Helen, Gordon, Caroline, Franklyn, Jayne A. and Gough, Stephen C. L. (2002) A nonsense mutation in exon 2 of the DNase I gene is not present in UK subjects with systemic lupus erythematosus and Graves' disease: Comment on the article by Rood et al. Arthritis and Rheumatism, 46 (11). pp. 3109-3110. ISSN 0004-3591

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

fibroblast

Simmonds, M. J., Heward, J. M., Franklyn, J. A. and Gough, S. C. L. (2005) The CD40 Kozak SNP: a new susceptibility loci for Graves' disease? Clinical Endocrinology, 63 (2). pp. 232-233. ISSN 0300 0664

fibrosis

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

follow up

Moore, J., McKnight, A.J., Simmonds, M. J., Courtney, A. E., Hanvesakul, R., Brand, O. J., Briggs, D., Ball, S., Cockwell, P., Patterson, C.C., Maxwell, A. P., Gough, S. C. L. and Borrows, R. (2010) Association of caveolin-1 gene polymorphism with kidney transplant fibrosis and allograft failure. JAMA - Journal of the American Medical Association, 303 (13). pp. 1282-1287. ISSN 0098-7484

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Simmonds, Matthew J., Benavente, David, Brand, Oliver J., Moore, Jason, Ball, Simon, Ferro, Charles J., Briggs, David, Gough, Stephen C. L. and Borrows, Richard J. (2013) Skewing of female X-chromosome inactivation: an epigenetic risk factor for kidney transplantation outcome. Transplantation, 95 (5). e25-e28. ISSN 0041-1337

gastritis

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

gender

Chand, S., Chue, C. D., Edwards, N. C., Hodson, J., Simmonds, M. J., Hamilton, A., Gough, S. C. L., Harper, L., Steeds, R. P., Townend, J. N., Ferro, C. J. and Borrows, R. (2015) Endothelial nitric oxide synthase single nucleotide polymorphism and left ventricular function in early chronic kidney disease. PLoS ONE, 10 (1). ISSN 1932-6203

gender identity

Elmrghni, Samir, Shaw, Michael, Ali, Nadir, Dixon, Ron and Ross Williams, D. (2012) Aberrations of human gender identification by amelogenin test in Libyans (Benghazi city). Indian Journal of Forensic Medicine and Toxicology, 6 (2). pp. 163-166. ISSN 0973-9122

gender variance

Davy, Zowie (2012) Differences in sexual development: towards a phenomenological understanding of gender variance. In: Controversies and Confrontations: Violence and Agency, 6-7 December 2012, University of Vienna, Austria.

gene

Hunt, K. A., Smyth, D. J., Balschun, T., Ban, M., Mistry, V., Ahmed, T., Barrett, J. C., Bhaw-Rosun, L., Bockett, N. A., Brand, O. J., Brouwer, E., Concannon, P., Cooper, J. D., Dias, K-R. M., van Diemen, C. C., Dubois, P.C., Edkins, S., Fölster-Holst, R., Fransen, K., Glass, D. N., Heap, G. A. R., Hofmann, S., Huizinga, T. W. J., Hunt, S., Langford, C., Lee, J., Mansfield, J., Giovanna Marrosu, M., Mathew, C. G., Mein, C.A., Müller-Quernheim, J., Nutland, S., Onengut-Gumuscu, S., Ouwehand, W., Pearce, K., Prescott, N., Posthumus, M. D., Potter, S., Rosati, G., Sambrook, J., Satsangi, J., Schreiber, S., Shtir, C., Simmonds, M. J., Sudman, M., Thompson, S. D., Toes, R., Trynka, G., Vyse, T. J., Walker, N. M., Weidinger, S., Zhernakova, A., Zoledziewska, M., Weersma, R.K., Gough, S.C.L., Sawcer, S., Wijmenga, C., Parkes, M., Cucca, F., Franke, A., Deloukas, P., Rich, S. S., Todd, J. A. and van Heel, D. A. (2011) Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. Nature Genetics, 44 (1). pp. 3-5. ISSN 10614036

Medici, M., Porcu, E., Pistis, G., Teumer, A., Brown, S. J., Jensen, R. A., Rawal, R., Roef, G. L., Plantinga, T. S., Vermeulen, S. H., Lahti, J., Simmonds, M. J., Husemoen, L. N. N., Freathy, R. M., Shields, B. M., Pietzner, D., Nagy, R., Broer, L., Chaker, L., Korevaar, T. I. M., Plia, M. G., Sala, C., Volker, U., Richards, J. B., Sweep, F. C., Gieger, C., Corre, T., Kajantie, E., Thuesen, B., Taes, Y. E., Visser, W. E., Hattersley, A. T., Kratzsch, J., Hamilton, A., Li, W., Homuth, G., Lobina, M., Mariotti, S., Soranzo, N., Cocca, M., Nauck, M., Spielhagen, C., Ross, A., Arnold, A., van de Bunt, M., Liyanarachchi, S., Heier, M., Grabe, H. J., Masciullo, C., Galesloot, T. E., Lim, E. M., Reischl, E., Leedman, P. J., Lai, S., Delitala, A., Bremner, A. P., Philips, D. I. W., Beilby, J. P., Mulas, A., Vocale, M., Abecasis, G., Forsen, T., James, A., Widen, E., Hui, J., Prokisch, H., Rietzschel, E. E., Palotie, A., Feddema, P., Fletcher, S. J., Schramm, K., Rotter, J. I., Kluttig, A., Radke, D., Traglia, M., Surdulescu, G. L., He, H., Franklyn, J. A., Tiller, D., Vaidya, B., de Meyer, T., Jørgensen, T., Eriksson, J. G., O’Leary, P. C., Wichmann, E., Hermus, A. R., Psaty, B. M., Ittermann, T., Hofman, A., Bosi, E., Schlessinger, D., Wallaschofski, H., Pirastu, N., Aulchenko, Y.S., de la Chapelle, A., Netea-Maier, R.T., Gough, S.C.L., Meyer zu Schwabedissen, H., Frayling, T.M., Kaufman, J.M., Linneberg, A., Raikkonen, K., Smit, J.W.A., Kiemeney, L.A., Rivadeneira, F., Uitterlinden, A.G., Walsh, J.P., Meisinger, C., den Heijer, M., Visser, T.J., Spector, T.D., Wilson, S.G., Volzke, H., Cappola, A., Toniolo, D., Sanna, S., Naitza, S. and Peeters, R.P. (2014) Identification of novel genetic loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genetics, 10 (2). ISSN 1553-7390

Moore, Jason, McKnight, Amy Jayne, Döhler, Bernd, Simmonds, Matthew J., Courtney, Aisling E., Brand, Oliver J., Briggs, David, Ball, Simon, Cockwell, Paul, Patterson, Christopher C., Maxwell, Alexander P., Gough, Stephen C. L., Opelz, Gerhard and Borrows, Richard (2012) Donor ABCB1 variant associates with increased risk for kidney allograft failure. Journal of the American Society of Nephrology, 23 (11). pp. 1891-1899. ISSN 1046-6673

Newby, P. R., Roberts-Davies, E. L., Brand, O. J., Heward, J. M., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2007) Tag SNP screening of the PDCD1 gene for association with Graves' disease. Clinical Endocrinology, 67 (1). pp. 125-128. ISSN 0300-0664

Newby, Paul R., Pickles, Oliver J., Mazumdar, Samaresh, Brand, Oliver J., Carr-Smith, Jacqueline D., Pearce, Simon H. S., Franklyn, Jayne A., Evans, David M., Simmonds, Matthew J., Gough, Stephen C. L. and Welcome Trust Case-Control Consortium (WTCCC), . (2010) Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. European Journal of Human Genetics, 18 (9). pp. 1021-1026. ISSN 1018-4813

Plagnol, Vincent, Howson, Joanna M. M., Smyth, Deborah J., Walker, Neil, Hafler, Jason P., Wallace, Chris, Stevens, Helen, Jackson, Laura, Simmonds, Matthew J., T1D Genetics Consortium, -, Bingley, Polly J., Gough, Stephen C. and Todd, John A. (2011) Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. PLoS Genetics, 7 (8). ISSN 1553-7390

Simmonds, M. J., Heward, J. M., Barrett, J. C., Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

Simmonds, Matthew J., Brand, Oliver J., Barrett, Jeffrey C., Newby, Paul R., Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Association of Fc receptor-like 5 (FCRL5) with Graves' disease is secondary to the effect of FCRL3. Clinical Endocrinology, 73 (5). pp. 654-660. ISSN 0300-0664

Zeitlin, A., Simmonds, M. J. and Gough, S. C. (2008) Genetic developments in autoimmune thyroid disease: an evolutionary process. Clinical Endocrinology, 68 (5). pp. 671-682. ISSN 0300-0664

Zeitlin, A. A., Heward, J. M., Brand, O. J., Newby, P. R., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2006) Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves' disease. Clinical Endocrinology, 65 (3). pp. 380-384. ISSN 0300-0664

gene control

Simmonds, Matthew J. (2013) GWAS in autoimmune thyroid disease: redefining our understanding of pathogenesis. Nature Reviews Endocrinology, 9 (5). pp. 277-287. ISSN 1759-5029

gene expression

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