Article

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). pp. 572-581. ISSN 1942-325X

Long, Lu, Ormiston, Mark L., Yang, Xudong, Southwood, Mark, Gräf, Stefan, Machado, Rajiv D., Mueller, Matthias, Kinzel, Bernd, Yung, Lai Ming, Wilkinson, Janine M., Moore, Stephen D., Drake, Kylie M., Aldred, Micheala A., Yu, Paul B., Upton, Paul D. and Morrell, Nicholas W. (2015) Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension. Nature Medicine, 21 (7). pp. 777-785. ISSN 1078-8956

Ormiston, Mark L., Southgate, Laura, Treacy, Carmen, Pepke-Zaba, Joanna, Trembath, Richard C., Machado, Rajiv D. and Morrell, Nicholas W. (2013) Assessment of a pulmonary origin for blood outgrowth endothelial cells by examination of identical twins harboring a BMPR2 mutation. American Journal of Respiratory and Critical Care Medicine, 188 (2). pp. 258-260. ISSN 1073-449X

Ormiston, Mark L., Chang, Chiwen, Long, Lu L., Soon, Elaine, Jones, Des, Machado, Rajiv, Treacy, Carmen, Toshner, Mark R., Campbell, Kate, Riding, Alex, Southwood, Mark, Pepke-Zaba, Joanna, Exley, Andrew, Trembath, Richard C., Colucci, Francesco, Wills, Mark, Trowsdale, John and Morrell, Nicholas W. (2012) Impaired natural killer cell phenotype and function in idiopathic and heritable pulmonary arterial hypertension. Circulation, 126 (9). pp. 1099-1109. ISSN 0009-7322

Machado, R. D. (2012) Seeking the right targets: gene therapy advances in pulmonary arterial hypertension. The European Respiratory Journal : official journal of the European Society for Clinical Respiratory Physiology, 39 (2). pp. 235-237. ISSN 0903-1936

Machado, Rajiv (2012) The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension. Scientifica, 2012 . ISSN 2090-908X

Nasim, Md Talat, Ogo, Takeshi, Ahmed, Mohammad, Randall, Rebecca, Chowdhury, Hasnin M., Snape, Katie M., Bradshaw, Teisha Y., Southgate, Laura, Lee, Grace J., Jackson, Ian, Lord, Graham M., Gibbs, J. Simon R., Wilkins, Martin R., Ohta-Ogo, Keiko, Nakamura, Kazufumi, Girerd, Barbara, Coulet, Florence, Soubrier, Florent, Humbert, Marc, Morrell, Nicholas W., Trembath, Richard C. and Machado, Rajiv D. (2011) Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension. Human Mutation, 32 (12). pp. 1385-1389. ISSN 1059-7794

Southgate, Laura, Machado, Rajiv D., Snape, Katie M, Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M, Branney, Peter A, Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie and Trembath, Richard C. (2011) Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. American Journal of Human Genetics, 88 (5). pp. 574-85. ISSN 0002-9297

He, Y., Northey, J. J., Primeau, M., Machado, R. D., Trembath, R., Siegel, P. M. and Lamarche-Vane, N. (2011) CdGAP is required for transforming growth factor β- and Neu/ErbB-2-induced breast cancer cell motility and invasion. Oncogene, 30 (9). pp. 1032-1045. ISSN 0950-9232

Denais, Celine, Dent, Carolyn L., Southgate, Laura, Hoyle, Jacqueline, Dafou, Dimitra, Trembath, Richard C. and Machado, Rajiv D. (2011) Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development. Human Mutation, 32 (2). pp. 231-239. ISSN 1059-7794

Soon, Elaine, Holmes, Alan M., Treacy, Carmen M., Doughty, Natalie J., Southgate, Laura, Machado, Rajiv D., Trembath, Richard C., Jennings, Simon, Barker, Lucy, Nicklin, Paul, Walker, Christoph, Budd, David C., Pepke-Zaba, Joanna and Morrell, Nicholas W. (2010) Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension. Circulation, 122 (9). pp. 920-927. ISSN 0009-7322

Machado, Rajiv D., Eickelberg, Oliver, Elliott, C. Gregory, Geraci, Mark W., Hanaoka, Masayuki, Loyd, James E., Newman, John H., Phillips, John A., Soubrier, Florent, Trembath, Richard C. and Chung, Wendy K. (2009) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 54 (1 Supp). S32-42. ISSN 0735-1097

Grünig, Ekkehard, Weissmann, Sylvia, Ehlken, Nicola, Fijalkowska, Anna, Fischer, Christine, Fourme, Thierry, Galié, Nazzareno, Ghofrani, Ardeschir, Harrison, Rachel E, Huez, Sandrine, Humbert, Marc, Janssen, Bart, Kober, Jaroslaw, Koehler, Rolf, Machado, Rajiv D., Mereles, Derliz, Naeije, Robert, Olschewski, Horst, Provencher, Steeve, Reichenberger, Frank, Retailleau, Kathleen, Rocchi, Guido, Simonneau, Gérald, Torbicki, Adam, Trembath, Richard and Seeger, Werner (2009) Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia. Circulation, 119 (13). pp. 1747-1757. ISSN 0009-7322

Aldred, Micheala A, Machado, Rajiv D., James, Victoria, Morrell, Nicholas W. and Trembath, Richard C. (2007) Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension. American Journal of Respiratory and Critical Care Medicine, 176 (8). pp. 819-24. ISSN 1073-449X

Suntharalingam, Jay, Machado, Rajiv D., Sharples, Linda D., Toshner, Mark R., Sheares, Karen K., Hughes, Rodney J., Jenkins, David P., Trembath, Richard C., Morrell, Nicholas W. and Pepke-Zaba, Joanna (2007) Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension. Thorax, 62 (7). pp. 617-622. ISSN 0040-6376

Tarpey, Patrick, Thomas, Shery, Sarvananthan, Nagini, Mallya, Uma, Lisgo, Steven, Talbot, Chris J., Roberts, Eryl O., Awan, Musarat, Surendran, Mylvaganam, McLean, Rebecca J., Reinecke, Robert D., Langmann, Andrea, Lindner, Susanne, Koch, Martina, Jain, Sunila, Woodruff, Geoffrey, Gale, Richard P., Bastawrous, Andrew, Degg, Chris, Droutsas, Konstantinos, Asproudis, Ioannis, Zubcov, Alina A., Pieh, Christina, Veal, Colin D., Machado, Rajiv D., Backhouse, Oliver C., Baumber, Laura, Constantinescu, Cris S., Brodsky, Michael C., Hunter, David G., Hertle, Richard W., Read, Randy J., Edkins, Sarah, O'Meara, Sarah, Parker, Adrian, Stevens, Claire, Teague, Jon, Wooster, Richard, Futreal, P. Andrew, Trembath, Richard C., Stratton, Michael R., Raymond, F. Lucy and Gottlob, Irene (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nature Genetics, 38 (11). pp. 1242-4. ISSN 1061-4036

Machado, Rajiv D., Koehler, Rolf, Glissmeyer, Eric, Veal, Colin, Suntharalingam, Jay, Kim, Miryoung, Carlquist, John, Town, Margaret, Elliott, C. Gregory, Hoeper, Marius, Fijalkowska, Anna, Kurzyna, Marcin, Thomson, Jennifer R., Gibbs, Simon R., Wilkins, Martin R., Seeger, Werner, Morrell, Nicholas W., Gruenig, Ekkehard, Trembath, Richard C. and Janssen, Bart (2006) Genetic association of the serotonin transporter in pulmonary arterial hypertension. American journal of respiratory and critical care medicine, 173 (7). pp. 793-797. ISSN 1535-4970

Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Elliott, C. Gregory, Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W. and Trembath, Richard C. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Human Mutation, 27 (2). pp. 121-132. ISSN 1059-7794

Sankelo, Marja, Flanagan, Julia A., Machado, Rajiv, Harrison, Rachel, Rudarakanchana, Nung, Morrell, Nicholas, Dixon, Morag, Halme, Maija, Puolijoki, Hannu, Kere, Juha, Elomaa, Outi, Kupari, Markku, Räisänen-Sokolowski, Anne, Trembath, Richard C. and Laitinen, Tarja (2005) BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension. Human Mutation, 26 (2). pp. 119-24. ISSN 1059-7794

Machado, Rajiv D., James, Victoria, Southwood, Mark, Harrison, Rachel E., Atkinson, Carl, Stewart, Susan, Morrell, Nicholas W., Trembath, Richard C. and Aldred, Micheala A. (2005) Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension. Circulation, 111 (5). pp. 607-613. ISSN 0009-7322

Machado, Rajiv D., Rudarakanchana, Nung, Atkinson, Carl, Flanagan, Julia A., Harrison, Rachel, Morrell, Nicholas W. and Trembath, Richard C. (2003) Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension. Human Molecular Genetics, 12 (24). pp. 3277-3286. ISSN 0964-6906

Harrison, R. E., Flanagan, J. A., Sankelo, M., Abdalla, S. A., Rowell, J., Machado, R. D., Elliott, C. G., Robbins, I. M., Olschewski, H., McLaughlin, V., Gruenig, E., Kermeen, F., Halme, M., Räisänen-Sokolowski, A., Laitinen, T., Morrell, N. W. and Trembath, R. C. (2003) Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Journal of medical genetics, 40 (12). pp. 865-71. ISSN 0022-2593

Humbert, M., Labrune, P., Sitbon, O., Le Gall, C., Callebert, J., Hervé, P., Samuel, D., Machado, R., Trembath, R., Drouet, L., Launay, J. M. and Simonneau, G. (2002) Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. The European Respiratory Journal: official journal of the European Society for Clinical Respiratory Physiology, 20 (1). pp. 59-65. ISSN 0903-1936

Rudarakanchana, Nung, Flanagan, Julia A., Chen, Hailan, Upton, Paul D., Machado, Rajiv, Patel, D., Trembath, Richard C. and Morrell, Nicholas W. (2002) Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension. Human Molecular Genetics, 11 (13). pp. 1517-25. ISSN 0964-6906

Atkinson, Carl, Stewart, Susan, Upton, Paul D., Machado, Rajiv D., Thomson, Jennifer R., Trembath, Richard C. and Morrell, Nicholas W. (2002) Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor. Circulation, 105 (14). pp. 1672-1678. ISSN 0009-7322

Trembath, R. C., Thomson, J. R., Machado, Rajiv D., Morgan, N. V., Atkinson, C., Winship, I., Simonneau, G., Galie, N., Loyd, J. E., Humbert, M., Nichols, W .C., Morrell, N. W., Berg, J., Manes, A., McGaughran, J., Pauciulo, M. and Wheeler, L. (2001) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. The New England Journal of Medicine, 345 (5). pp. 325-334. ISSN 0028-4793

Thomson, J., Machado, Rajiv, Pauciulo, M., Morgan, N., Yacoub, M., Corris, P., McNeil, K., Loyd, J., Nichols, W. and Trembath, R. (2001) Familial and sporadic primary pulmonary hypertension is caused by BMPR2 gene mutations resulting in haploinsufficiency of the bone morphogenetic protein type II receptor. Journal of Heart and Lung Transplantation, 20 (2). p. 149. ISSN 1053-2498

Machado, Rajiv D., Pauciulo, M. W., Thomson, J. R., Lane, K. B., Morgan, N. V., Wheeler, L., Phillips, J. A., Newman, J., Williams, D., Galiè, N., Manes, A., McNeil, K., Yacoub, M., Mikhail, G., Rogers, P., Corris, P., Humbert, M., Donnai, D., Martensson, G., Tranebjaerg, L., Loyd, J. E., Trembath, R. C. and Nichols, W. C. (2001) BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension. American Journal of Human Genetics, 68 (1). pp. 92-102. ISSN 0002-9297

Thomson, J. R., Machado, Rajiv D., Pauciulo, M. W., Morgan, N .V., Humbert, M., Elliott, G. C., Ward, K., Yacoub, M., Mikhail, G., Rogers, P., Newman, J., Wheeler, L., Higenbottam, T., Gibbs, J. S., Egan, J., Crozier, A., Peacock, A., Allcock, R., Corris, P., Loyd, J. E., Trembath, R. C. and Nichols, W. C. (2000) Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family. Journal of Medical Genetics, 37 (10). pp. 741-745. ISSN 0022-2593

Machado, R. D., Pauciulo, M. W., Fretwell, N., Veal, C., Thomson, J. R., Vilariño Güell, C., Aldred, M., Brannon, C. A., Trembath, R. C. and Nichols, W. C. (2000) A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. Genomics, 68 (2). pp. 220-228. ISSN 0888-7543

Lane, K. B., Machado, R. D., Pauciulo, M. W., Thomson, J. R., Phillips, J. A., Loyd, J. E., Nichols, W. C. and Trembath, R. C. (2000) Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics, 26 (1). pp. 81-84. ISSN 1061-4036

Review

Machado, Rajiv D., Southgate, Laura, Eichstaedt, Christina A., Aldred, Micheala A., Austin, Eric D., Best, D. Hunter, Chung, Wendy K., Benjamin, Nicola, Elliott, C. Gregory, Eyries, Mélanie, Fischer, Christine, Gräf, Stefan, Hinderhofer, Katrin, Humbert, Marc, Keiles, Steven B., Loyd, James E., Morrell, Nicholas W., Newman, John H., Soubrier, Florent, Trembath, Richard C., Viales, Rebecca Rodríguez and Grünig, Ekkehard (2015) Pulmonary arterial hypertension: a current perspective on established and emerging molecular genetic defects. Human Mutation, 36 (12). pp. 1113-1127. ISSN 1059-7794

Soubrier, Florent, Chung, Wendy K., Machado, Rajiv, Grunig, Ekkehard, Aldred, Michaela, Geraci, Mark, Loyd, James E., Elliott, C. Gregory, Trembath, Richard C., Newman, John H. and Humbert, Marc (2013) Genetics and genomics of pulmonary arterial hypertension. Journal of the American College of Cardiology, 62 (25 SUP). D13-D21. ISSN 0735-1097

Book Section

Machado, Rajiv D. and Trembath, Richard C. (2012) Genetics [chapter 3]. In: Pulmonary Arterial Hypertension. Oxford Cardiology Library . Oxford University Press, pp. 31-44. ISBN 0199572631, 9780199572632

Southgate, Laura and Machado, Rajiv D. (2011) Molecular genetics of pulmonary hypertension. In: eLS (originally known as the Encyclopedia of Life Sciences). John Wiley & Sons, Ltd., Chichester. ISBN 9780470015902

Machado, Rajiv D., Trembath, Richard C. and Morrell, Nicholas W. (2011) Genetics of severe pulmonary hypertension [chapter 12]. In: Pulmonary hypertension: the present and future. People’s Medical Publishing House (PMPH), USA, pp. 197-210. ISBN 1607950375, 9781607950370