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Adib-Samii, Poneh and Devan, William and Traylor, Matthew and Lanfranconi, Silvia and Zhang, Cathy R. and Cloonan, Lisa and Falcone, Guido J. and Radmanesh, Farid and Fitzpatrick, Kaitlin and Kanakis, Allison and Rothwell, Peter M. and Sudlow, Cathie and Boncoraglio, Giorgio B. and Meschia, James F. and Levi, Chris and Dichgans, Martin and Bevan, Steve and Rosand, Jonathan and Rost, Natalia S. and Markus, Hugh S. (2015) Genetic architecture of white matter hyperintensities differs in hypertensive and nonhypertensive ischemic stroke. Stroke, 46 (2). pp. 348-353. ISSN 0039-2499

Aldred, Micheala A and Machado, Rajiv D. and James, Victoria and 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

Buckham, T. A. and McKnight, A. J. and Benevente, D. and Courtney, A. E. and Patterson, C. C. and Simmonds, Matthew J. and Gough, S. C. L. and Middleton, D. and Borrows, R. and Maxwell, A. P. (2010) Evaluation of five interleukin genes for association with end-stage renal disease in white Europeans. American Journal of Nephrology, 32 (2). pp. 103-108. ISSN 0250-8095

Burton, Paul R and Clayton, David G and Cardon, Lon R and Craddock, Nick and Deloukas, Panos and Duncanson, Audrey and Kwiatkowski, Dominic P and McCarthy, Mark I and Ouwehand, Willem H and Samani, Nilesh J and Todd, John A and Donnelly (Chair), Peter and Barrett, Jeffrey C and Burton, Paul R and Davison, Dan and Donnelly, Peter and Easton, Doug and Evans, David M and Leung, Hin-Tak and Marchini, Jonathan L and Morris, Andrew P and Spencer, Chris CA and Tobin, Martin D and Cardon, Lon R and Clayton, David G and Attwood, Antony P and Boorman, James P and Cant, Barbara and Everson, Ursula and Hussey, Judith M and Jolley, Jennifer D and Knight, Alexandra S and Koch, Kerstin and Meech, Elizabeth and Nutland, Sarah and Prowse, Christopher V and Stevens, Helen E and Taylor, Niall C and Walters, Graham R and Walker, Neil M and Watkins, Nicholas A and Winzer, Thilo and Todd, John A and Ouwehand, Willem H and Jones, Richard W and McArdle, Wendy L and Ring, Susan M and Strachan, David P and Pembrey, Marcus and Breen, Gerome and Clair, David St and Caesar, Sian and Gordon-Smith, Katharine and Jones, Lisa and Fraser, Christine and Green, Elaine K and Grozeva, Detelina and Hamshere, Marian L and Holmans, Peter A and Jones, Ian R and Kirov, George and Moskivina, Valentina and Nikolov, Ivan and O'Donovan, Michael C and Owen, Michael J and Craddock, Nick and Collier, David A and Elkin, Amanda and Farmer, Anne and Williamson, Richard and McGuffin, Peter and Young, Allan H and Ferrier, I Nicol and Ball, Stephen G and Balmforth, Anthony J and Barrett, Jennifer H and Bishop, Timothy D and Iles, Mark M and Maqbool, Azhar and Yuldasheva, Nadira and Hall, Alistair S and Braund, Peter S and Burton, Paul R and Dixon, Richard J and Mangino, Massimo and Stevens, Suzanne and Tobin, Martin D and Thompson, John R and Samani, Nilesh J and Bredin, Francesca and Tremelling, Mark and Parkes, Miles and Drummond, Hazel and Lees, Charles W and Nimmo, Elaine R and Satsangi, Jack and Fisher, Sheila A and Forbes, Alastair and Lewis, Cathryn M and Onnie, Clive M and Prescott, Natalie J and Sanderson, Jeremy and Matthew, Christopher G and Barbour, Jamie and Mohiuddin, M Khalid and Todhunter, Catherine E and Mansfield, John C and Ahmad, Tariq and Cummings, Fraser R and Jewell, Derek P and Webster, John and Brown, Morris J and Clayton, David G and Lathrop, Mark G and Connell, John and Dominiczak, Anna and Samani, Nilesh J and Marcano, Carolina A Braga and Burke, Beverley and Dobson, Richard and Gungadoo, Johannie and Lee, Kate L and Munroe, Patricia B and Newhouse, Stephen J and Onipinla, Abiodun and Wallace, Chris and Xue, Mingzhan and Caulfield, Mark and Farrall, Martin and Barton, Anne and Bruce, Ian N and Donovan, Hannah and Eyre, Steve and Gilbert, Paul D and Hilder, Samantha L and Hinks, Anne M and John, Sally L and Potter, Catherine and Silman, Alan J and Symmons, Deborah PM and Thomson, Wendy and Worthington, Jane and Clayton, David G and Dunger, David B and Nutland, Sarah and Stevens, Helen E and Walker, Neil M and Widmer, Barry and Todd, John A and Frayling, Timothy M and Freathy, Rachel M and Lango, Hana and Perry, John R B and Shields, Beverley M and Weedon, Michael N and Hattersley, Andrew T and Hitman, Graham A and Walker, Mark and Elliott, Kate S and Groves, Christopher J and Lindgren, Cecilia M and Rayner, Nigel W and Timpson, Nicolas J and Zeggini, Eleftheria and McCarthy, Mark I and Newport, Melanie and Sirugo, Giorgio and Lyons, Emily and Vannberg, Fredrik and Hill, Adrian V S and Bradbury, Linda A and Farrar, Claire and Pointon, Jennifer J and Wordsworth, Paul and Brown, Matthew A and Franklyn, Jayne A and Heward, Joanne M and Simmonds, Matthew J and Gough, Stephen CL and Seal, Sheila and Stratton, Michael R and Rahman, Nazneen and Ban, Maria and Goris, An and Sawcer, Stephen J and Compston, Alastair and Conway, David and Jallow, Muminatou and Newport, Melanie and Sirugo, Giorgio and Rockett, Kirk A and Kwiatkowski, Dominic P and Bumpstead, Suzannah J and Chaney, Amy and Downes, Kate and Ghori, Mohammed JR and Gwilliam, Rhian and Hunt, Sarah E and Inouye, Michael and Keniry, Andrew and King, Emma and McGinnis, Ralph and Potter, Simon and Ravindrarajah, Rathi and Whittaker, Pamela and Widden, Claire and Withers, David and Deloukas, Panos and Leung, Hin-Tak and Nutland, Sarah and Stevens, Helen E and Walker, Neil M and Todd, John A and Easton, Doug and Clayton, David G and Burton, Paul R and Tobin, Martin D and Barrett, Jeffrey C and Evans, David M and Morris, Andrew P and Cardon, Lon R and Cardin, Niall J and Davison, Dan and Ferreira, Teresa and Pereira-Gale, Joanne and Hallgrimsdóttir, Ingeleif B and Howie, Bryan N and Marchini, Jonathan L and Spencer, Chris CA and Su, Zhan and Teo, Yik Ying and Vukcevic, Damjan and Donnelly, Peter and Bentley, David and Brown, Matthew A and Cardon, Lon R and Caulfield, Mark and Clayton, David G and Compston, Alastair and Craddock, Nick and Deloukas, Panos and Donnelly, Peter and Farrall, Martin and Gough, Stephen CL and Hall, Alistair S and Hattersley, Andrew T and Hill, Adrian V S and Kwiatkowski, Dominic P and Matthew, Christopher G and McCarthy, Mark I and Ouwehand, Willem H and Parkes, Miles and Pembrey, Marcus and Rahman, Nazneen and Samani, Nilesh J and Stratton, Michael R and Todd, John A and Worthington, Jane and Mitchell, Sarah L and Newby, Paul R and Brand, Oliver J and Carr-Smith, Jackie and Pearce, Simon H S and Gough, Stephen C L and McGinnis, R and Keniry, A and Deloukas, P and Reveille, John D and Zhou, Xiaodong and Bradbury, Linda A and Sims, Anne-Marie and Dowling, Alison and Taylor, Jacqueline and Doan, Tracy and Cardon, Lon R and Davis, John C and Pointon, Jennifer J and Savage, Laurie and Ward, Michael M and Learch, Thomas L and Weisman, Michael H and Wordsworth, Paul and Brown, Matthew A (2007) Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics, 39 (11). pp. 1329-1337. ISSN 1061-4036

Burton, Paul R. and Clayton, David G. and Cardon, Lon R. and Craddock, Nick and Deloukas, Panos and Duncanson, Audrey and Kwiatkowski, Dominic P. and McCarthy, Mark I. and Ouwehand, Willem H. and Samani, Nilesh J. and Todd, John A. and Donnelly, Peter and Barrett, Jeffrey C. and Burton, Paul R. and Davison, Dan and Donnelly, Peter and Easton, Doug and Evans, David and Leung, Hin-Tak and Marchini, Jonathan L. and Morris, Andrew P. and Spencer, Chris C. A. and Tobin, Martin D. and Cardon, Lon R. and Clayton, David G. and Attwood, Antony P. and Boorman, James P. and Cant, Barbara and Everson, Ursula and Hussey, Judith M. and Jolley, Jennifer D. and Knight, Alexandra S. and Koch, Kerstin and Meech, Elizabeth and Nutland, Sarah and Prowse, Christopher V. and Stevens, Helen E. and Taylor, Niall C. and Walters, Graham R. and Walker, Neil M. and Watkins, Nicholas A. and Winzer, Thilo and Todd, John A. and Ouwehand, Willem H. and Jones, Richard W. and McArdle, Wendy L. and Ring, Susan M. and Strachan, David P. and Pembrey, Marcus and Breen, Gerome and St Clair, David and Caesar, Sian and Gordon-Smith, Katherine and Jones, Lisa and Fraser, Christine and Green, Elaine K. and Grozeva, Detelina and Hamshere, Marian L. and Holmans, Peter A. and Jones, Ian R. and Kirov, George and Moskvina, Valentina and Nikolov, Ivan and O'Donovan, Michael C. and Owen, Michael J. and Craddock, Nick and Collier, David A. and Elkin, Amanda and Farmer, Anne and Williamson, Richard and McGuffin, Peter and Young, Allan H. and Ferrier, I. Nicol and Ball, Stephen G. and Balmforth, Anthony J. and Barrett, Jennifer H. and Bishop, D. Timothy and Iles, Mark M. and Maqbool, Azhar and Yuldasheva, Nadira and Hall, Alistair S. and Braund, Peter S. and Burton, Paul R. and Dixon, Richard J. and Mangino, Massimo and Stevens, Suzanne and Tobin, Martin D. and Thompson, John R. and Samani, Nilesh J. and Bredin, Francesca and Tremelling, Mark and Parkes, Miles and Drummond, Hazel and Lees, Charles W. and Nimmo, Elaine R. and Satsangi, Jack and Fisher, Sheila A. and Forbes, Alastair and Lewis, Cathryn M. and Onnie, Clive M. and Prescott, Natalie J. and Sanderson, Jeremy and Mathew, Christopher G. and Barbour, Jamie and Mohiuddin, M. Khalid and Todhunter, Catherine E. and Mansfield, John C. and Ahmad, Tariq and Cummings, Fraser R. and Jewell, Derek P. and Webster, John and Brown, Morris J. and Clayton, David G. and Lathrop, G. Mark and Connell, John and Dominiczak, Anna and Samani, Nilesh J. and Marcano, Carolina A. Braga and Burke, Beverley and Dobson, Richard and Gungadoo, Johannie and Lee, Kate L. and Munroe, Patricia B. and Newhouse, Stephen J. and Onipinla, Abiodun and Wallace, Chris and Xue, Mingzhan and Caulfield, Mark and Farrall, Martin and Barton, Anne and and Genomics (BRAGGS), The Biologics in RA Genetics and Bruce, Ian N. and Donovan, Hannah and Eyre, Steve and Gilbert, Paul D. and Hider, Samantha L. and Hinks, Anne M. and John, Sally L. and Potter, Catherine and Silman, Alan J. and Symmons, Deborah P. M. and Thomson, Wendy and Worthington, Jane and Clayton, David G. and Dunger, David B. and Nutland, Sarah and Stevens, Helen E. and Walker, Neil M. and Widmer, Barry and Todd, John A. and Frayling, Timothy M. and Freathy, Rachel M. and Lango, Hana and Perry, John R. B. and Shields, Beverley M. and Weedon, Michael N. and Hattersley, Andrew T. and Hitman, Graham A. and Walker, Mark and Elliott, Kate S. and Groves, Christopher J. and Lindgren, Cecilia M. and Rayner, Nigel W. and Timpson, Nicholas J. and Zeggini, Eleftheria and McCarthy, Mark I. and Newport, Melanie and Sirugo, Giorgio and Lyons, Emily and Vannberg, Fredrik and Hill, Adrian V. S. and Bradbury, Linda A. and Farrar, Claire and Pointon, Jennifer J. and Wordsworth, Paul and Brown, Matthew A. and Franklyn, Jayne A. and Heward, Joanne M. and Simmonds, Matthew J. and Gough, Stephen C. L. and Seal, Sheila and Susceptibility Collaboration (UK), Breast Cancer and Stratton, Michael R. and Rahman, Nazneen and Ban, Maria and Goris, An and Sawcer, Stephen J. and Compston, Alastair and Conway, David and Jallow, Muminatou and Newport, Melanie and Sirugo, Giorgio and Rockett, Kirk A. and Kwiatkowski, Dominic P. and Bumpstead, Suzannah J. and Chaney, Amy and Downes, Kate and Ghori, Mohammed J. R. and Gwilliam, Rhian and Hunt, Sarah E. and Inouye, Michael and Keniry, Andrew and King, Emma and McGinnis, Ralph and Potter, Simon and Ravindrarajah, Rathi and Whittaker, Pamela and Widden, Claire and Withers, David and Deloukas, Panos and Leung, Hin-Tak and Nutland, Sarah and Stevens, Helen E. and Walker, Neil M. and Todd, John A. and Easton, Doug and Clayton, David G. and Burton, Paul R. and Tobin, Martin D. and Barrett, Jeffrey C. and Evans, David and Morris, Andrew P. and Cardon, Lon R. and Cardin, Niall J. and Davison, Dan and Ferreira, Teresa and Pereira-Gale, Joanne and Hallgrimsdóttir, Ingileif B. and Howie, Bryan N. and Marchini, Jonathan L. and Spencer, Chris C. A. and Su, Zhan and Teo, Yik Ying and Vukcevic, Damjan and Donnelly, Peter and Bentley, David and Brown, Matthew A. and Cardon, Lon R. and Caulfield, Mark and Clayton, David G. and Compston, Alistair and Craddock, Nick and Deloukas, Panos and Donnelly, Peter and Farrall, Martin and Gough, Stephen C. L. and Hall, Alistair S. and Hattersley, Andrew T. and Hill, Adrian V. S. and Kwiatkowski, Dominic P. and Mathew, Christopher G. and McCarthy, Mark I. and Ouwehand, Willem H. and Parkes, Miles and Pembrey, Marcus and Rahman, Nazneen and Samani, Nilesh J. and Stratton, Michael R. and Todd, John A. and Worthington, Jane (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447 (7145). pp. 661-678. ISSN 0028-0836

Craddock, Nick and Hurles, Matthew E. and Cardin, Niall and Pearson, Richard D. and Plagnol, Vincent and Robson, Samuel and Vukcevic, Damjan and Barnes, Chris and Conrad, Donald F. and Giannoulatou, Eleni and Holmes, Chris and Marchini, Jonathan L. and Stirrups, Kathy and Tobin, Martin D. and Wain, Louise V. and Yau, Chris and Aerts, Jan and Ahmad, Tariq and Daniel Andrews, T. and Arbury, Hazel and Attwood, Anthony and Auton, Adam and Ball, Stephen G. and Balmforth, Anthony J. and Barrett, Jeffrey C. and Barroso, Inês and Barton, Anne and Bennett, Amanda J. and Bhaskar, Sanjeev and Blaszczyk, Katarzyna and Bowes, John and Brand, Oliver J. and Braund, Peter S. and Bredin, Francesca and Breen, Gerome and Brown, Morris J. and Bruce, Ian N. and Bull, Jaswinder and Burren, Oliver S. and Burton, John and Byrnes, Jake and Caesar, Sian and Clee, Chris M. and Coffey, Alison J. and Connell, John M. C. and Cooper, Jason D. and Dominiczak, Anna F. and Downes, Kate and Drummond, Hazel E. and Dudakia, Darshna and Dunham, Andrew and Ebbs, Bernadette and Eccles, Diana and Edkins, Sarah and Edwards, Cathryn and Elliot, Anna and Emery, Paul and Evans, David M. and Evans, Gareth and Eyre, Steve and Farmer, Anne and Nicol Ferrier, I. and Feuk, Lars and Fitzgerald, Tomas and Flynn, Edward and Forbes, Alistair and Forty, Liz and Franklyn, Jayne A. and Freathy, Rachel M. and Gibbs, Polly and Gilbert, Paul and Gokumen, Omer and Gordon-Smith, Katherine and Gray, Emma and Green, Elaine and Groves, Chris J. and Grozeva, Detelina and Gwilliam, Rhian and Hall, Anita and Hammond, Naomi and Hardy, Matt and Harrison, Pile and Hassanali, Neelam and Hebaishi, Husam and Hines, Sarah and Hinks, Anne and Hitman, Graham A and Hocking, Lynne and Howard, Eleanor and Howard, Philip and Howson, Joanna M. M. and Hughes, Debbie and Hunt, Sarah and Isaacs, John D. and Jain, Mahim and Jewell, Derek P. and Johnson, Toby and Jolley, Jennifer D. and Jones, Ian R. and Jones, Lisa A. and Kirov, George and Langford, Cordelia F. and Lango-Allen, Hana and Mark Lathrop, G. and Lee, James and Lee, Kate L. and Lees, Charlie and Lewis, Kevin and Lindgren, Cecilia M. and Maisuria-Armer, Meeta and Maller, Julian and Mansfield, John and Martin, Paul and Massey, Dunecan C. O. and McArdle, Wendy L. and McGuffin, Peter and McLay, Kirsten E. and Mentzer, Alex and Mimmack, Michael L. and Morgan, Ann E. and Morris, Andrew P. and Mowat, Craig and Myers, Simon and Newman, William and Nimmo, Elaine R. and O’Donovan, Michael C. and Onipinla, Abiodun and Onyiah, Ifejinelo and Ovington, Nigel R. and Owen, Michael J. and Palin, Kimmo and Parnell, Kirstie and Pernet, David and Perry, John R. B. and Phillips, Anne and Pinto, Dalila and Prescott, Natalie J. and Prokopenko, Inga and Quail, Michael A. and Rafelt, Suzanne and Rayner, Nigel W. and Redon, Richard and Reid, David M. and Renwick, Anthony and Ring, Susan M. and Robertson, Neil and Russell, Ellie and St Clair, David and Sambrook, Jennifer G. and Sanderson, Jeremy D. and Schuilenburg, Helen and Scott, Carol E. and Scott, Richard and Seal, Sheila and Shaw-Hawkins, Sue and Shields, Beverley M. and Simmonds, Matthew J. and Smyth, Debbie J. and Somaskantharajah, Elilan and Spanova, Katarina and Steer, Sophia and Stephens, Jonathan and Stevens, Helen E. and Stone, Millicent A. and Su, Zhan and Symmons, Deborah P. M. and Thompson, John R. and Thomson, Wendy and Travers, Mary E. and Turnbull, Clare and Valsesia, Armand and Walker, Mark and Walker, Neil M. and Wallace, Chris and Warren-Perry, Margaret and Watkins, Nicholas A. and Webster, John and Weedon, Michael N. and Wilson, Anthony G. and Woodburn, Matthew and Wordsworth, B. Paul and Young, Allan H. and Zeggini, Eleftheria and Carter, Nigel P. and Frayling, Timothy M. and Lee, Charles and McVean, Gil and Munroe, Patricia B. and Palotie, Aarno and Sawcer, Stephen J. and Scherer, Stephen W. and Strachan, David P. and Tyler-Smith, Chris and Brown, Matthew A. and Burton, Paul R. and Caulfield, Mark J. and Compston, Alastair and Farrall, Martin and Gough, Stephen C. L. and Hall, Alistair S. and Hattersley, Andrew T. and Hill, Adrian V. S. and Mathew, Christopher G. and Pembrey, Marcus and Satsangi, Jack and Stratton, Michael R. and Worthington, Jane and Deloukas, Panos and Duncanson, Audrey and Kwiatkowski, Dominic P. and McCarthy, Mark I. and Ouwehand, Willem H. and Parkes, Miles and Rahman, Nazneen and Todd, John A. and Samani, Nilesh J. and Donnelly, Peter (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464 (7289). pp. 713-720. ISSN 0028-0836

Frayling, Timothy M. and Traylor, Matthew and Mäkelä, Kari-Matti and Kilarski, Laura L. and Holliday, Elizabeth G. and Devan, William J. and Nalls, Mike A. and Wiggins, Kerri L. and Zhao, Wei and Cheng, Yu-Ching and Achterberg, Sefanja and Malik, Rainer and Sudlow, Cathie and Bevan, Steve and Raitoharju, Emma and Oksala, Niku and Thijs, Vincent and Lemmens, Robin and Lindgren, Arne and Slowik, Agnieszka and Maguire, Jane M. and Walters, Matthew and Algra, Ale and Sharma, Pankaj and Attia, John R. and Boncoraglio, Giorgio B. and Rothwell, Peter M. and de Bakker, Paul I. W. and Bis, Joshua C. and Saleheen, Danish and Kittner, Steven J. and Mitchell, Braxton D. and Rosand, Jonathan and Meschia, James F. and Levi, Christopher and Dichgans, Martin and Lehtimäki, Terho and Lewis, Cathryn M. and Markus, Hugh S. (2014) A novel MMP12 locus Is associated with large artery atherosclerotic stroke Using a genome-wide age-at-onset informed approach. PLoS Genetics, 10 (7). e1004469. ISSN 1553-7390

Gesierich, Benno and Opherk, Christian and Rosand, Jonathan and Gonik, Mariya and Malik, Rainer and Jouvent, Eric and Hervé, Dominique and Adib-Samii, Poneh and Bevan, Steve and Pianese, Luigi and Silvestri, Serena and Dotti, Maria T. and De Stefano, Nicola and van der Grond, Jeroen and Boon, Elles M. J. and Pescini, Francesca and Rost, Natalia and Pantoni, Leonardo and Lesnik Oberstein, Saskia A. and Federico, Antonio and Ragno, Michele and Markus, Hugh S. and Tournier-Lasserve, Elisabeth and Chabriat, Hugues and Dichgans, Martin and Duering, Marco and Ewers, Michael (2016) APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL. Journal of Cerebral Blood Flow & Metabolism . ISSN 0271-678X

Grünig, Ekkehard and Weissmann, Sylvia and Ehlken, Nicola and Fijalkowska, Anna and Fischer, Christine and Fourme, Thierry and Galié, Nazzareno and Ghofrani, Ardeschir and Harrison, Rachel E and Huez, Sandrine and Humbert, Marc and Janssen, Bart and Kober, Jaroslaw and Koehler, Rolf and Machado, Rajiv D. and Mereles, Derliz and Naeije, Robert and Olschewski, Horst and Provencher, Steeve and Reichenberger, Frank and Retailleau, Kathleen and Rocchi, Guido and Simonneau, Gérald and Torbicki, Adam and 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

Hamilton, A. and Mittal, S. and Barnardo, M. C .N. M. and Fuggle, S. V. and Friend, P. and Gough, S. C. L. and Simmonds, M. (2015) Genetic variation in Caveolin-1 correlates with long-term pancreas transplant outcome. American Journal of Transplantation . ISSN 1600-6143

Hamilton, A. and Newby, P. R. and Carr-Smith, J. D. and Disanto, G. and Allahabadia, A. and Armitage, M. and Brix, T. H. and Taylor, J.C. and Vaidya, B. and Wass, J. A. and Wiersinga, W. M. and Weetman, A. P. and Ramagopalan, S. V. and Franklyn, J. A. and Gough, S. C. L. and Simmonds, M. J. (2014) Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. Journal of Clinical Endocrinology and Metabolism, 99 (8). ISSN 0021-972X

Hanscombe, Ken B. and Traylor, Matthew and Hysi, Pirro G. and Bevan, Stephen and Dichgans, Martin and Rothwell, Peter M. and Worrall, Bradford B. and Seshadri, Sudha and Sudlow, Cathie and Williams, Frances M. K. and Markus, Hugh S. and Lewis, Cathryn M. (2015) Genetic factors influencing coagulation factor XIII B-subunit contribute to risk of ischemic stroke. Stroke, 46 (8). pp. 2069-2074. ISSN 0039-2499

Harrison, R. E. and Flanagan, J. A. and Sankelo, M. and Abdalla, S. A. and Rowell, J. and Machado, R. D. and Elliott, C. G. and Robbins, I. M. and Olschewski, H. and McLaughlin, V. and Gruenig, E. and Kermeen, F. and Halme, M. and Räisänen-Sokolowski, A. and Laitinen, T. and 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

Holliday, Elizabeth G. and Traylor, Matthew and Malik, Rainer and Bevan, Stephen and Maguire, Jane and Koblar, Simon A. and Sturm, Jonathan and Hankey, Graeme J. and Oldmeadow, Christopher and McEvoy, Mark and Sudlow, Cathie and Rothwell, Peter M. and Coresh, Josef and Hamet, Pavel and Tremblay, Johanne and Turner, Stephen T. and de Andrade, Mariza and Rao, Madhumathi and Schmidt, Reinhold and Crick, Peter A. and Robino, Antonietta and Peralta, Carmen A. and Jukema, J. Wouter and Mitchell, Paul and Rosas, Sylvia E. and Wang, Jie Jin and Scott, Rodney J. and Dichgans, Martin and Mitchell, Braxton D. and Kao, W.H. Linda and Fox, Caroline S. and Levi, Christopher and Attia, John and Markus, Hugh S. (2014) Polygenic overlap between kidney function and large artery atherosclerotic stroke. Stroke, 45 (12). pp. 3508-3513. ISSN 0039-2499

Kilarski, L. L. and Achterberg, S. and Devan, W. J. and Traylor, M. and Malik, R. and Lindgren, A. and Pare, G. and Sharma, P. and Slowik, A. and Thijs, V. and Walters, M. and Worrall, B. B. and Sale, M. M. and Algra, A. and Kappelle, L. J. and Wijmenga, C. and Norrving, B. and Sandling, J. K. and Ronnblom, L. and Goris, A. and Franke, A. and Sudlow, C. and Rothwell, P. M. and Levi, C. and Holliday, E. G. and Fornage, M. and Psaty, B. and Gretarsdottir, S. and Thorsteinsdottir, U. and Seshadri, S. and Mitchell, B. D. and Kittner, S. and Clarke, R. and Hopewell, J. C. and Bis, J. C. and Boncoraglio, G. B. and Meschia, J. and Ikram, M. A. and Hansen, B. M. and Montaner, J. and Thorleifsson, G. and Stefanson, K. and Rosand, J. and de Bakker, P. I. W. and Farrall, M. and Dichgans, M. and Markus, H. S. and Bevan, S. (2014) Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12. Neurology, 83 (8). pp. 678-685. ISSN 0028-3878

Lane, K. B. and Machado, R. D. and Pauciulo, M. W. and Thomson, J. R. and Phillips, J. A. and Loyd, J. E. and 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

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, R. D. and Pauciulo, M. W. and Fretwell, N. and Veal, C. and Thomson, J. R. and Vilariño Güell, C. and Aldred, M. and Brannon, C. A. and 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

Machado, Rajiv D. and Aldred, Micheala A. and James, Victoria and Harrison, Rachel E. and Patel, Bhakti and Schwalbe, Edward C. and Gruenig, Ekkehard and Janssen, Bart and Koehler, Rolf and Seeger, Werner and Eickelberg, Oliver and Olschewski, Horst and Elliott, C. Gregory and Glissmeyer, Eric and Carlquist, John and Kim, Miryoung and Torbicki, Adam and Fijalkowska, Anna and Szewczyk, Grzegorz and Parma, Jasmine and Abramowicz, Marc J. and Galie, Nazzareno and Morisaki, Hiroko and Kyotani, Shingo and Nakanishi, Norifumi and Morisaki, Takayuki and Humbert, Marc and Simonneau, Gerald and Sitbon, Olivier and Soubrier, Florent and Coulet, Florence and 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

Machado, Rajiv D. and Eickelberg, Oliver and Elliott, C. Gregory and Geraci, Mark W. and Hanaoka, Masayuki and Loyd, James E. and Newman, John H. and Phillips, John A. and Soubrier, Florent and 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

Machado, Rajiv D. and James, Victoria and Southwood, Mark and Harrison, Rachel E. and Atkinson, Carl and Stewart, Susan and Morrell, Nicholas W. and 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. and Koehler, Rolf and Glissmeyer, Eric and Veal, Colin and Suntharalingam, Jay and Kim, Miryoung and Carlquist, John and Town, Margaret and Elliott, C. Gregory and Hoeper, Marius and Fijalkowska, Anna and Kurzyna, Marcin and Thomson, Jennifer R. and Gibbs, Simon R. and Wilkins, Martin R. and Seeger, Werner and Morrell, Nicholas W. and Gruenig, Ekkehard and 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. and Pauciulo, M. W. and Thomson, J. R. and Lane, K. B. and Morgan, N. V. and Wheeler, L. and Phillips, J. A. and Newman, J. and Williams, D. and Galiè, N. and Manes, A. and McNeil, K. and Yacoub, M. and Mikhail, G. and Rogers, P. and Corris, P. and Humbert, M. and Donnai, D. and Martensson, G. and Tranebjaerg, L. and Loyd, J. E. and 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

Markus, Hugh S. and Bevan, Steve (2014) Mechanisms and treatment of ischaemic stroke: insights from genetic associations. Nature Reviews Neurology, 10 (12). pp. 723-730. ISSN 1759-4758

Nejentsev, Sergey and Howson, Joanna M. M. and Walker, Neil M. and Szeszko, Jeffrey and Field, Sarah F. and Stevens, Helen E. and Reynolds, Pamela and Hardy, Matthew and King, Erna and Masters, Jennifer and Hulme, John and Maier, Lisa M. and Smyth, Deborah and Bailey, Rebecca and Cooper, Jason D. and Ribas, Gloria and Campbell, R. Duncan and Clayton, David G. and Todd, John A. and Burton, Paul R. and Clayton, David G. and Cardon, Lon R. and Craddock, Nick and Deloukas, Panos and Duncanson, Audrey and Kwiatkowski, Dominic P. and McCarthy, Mark I. and Ouwehand, Willem H. and Samani, Nilesh J. and Todd, John A. and Donnelly, Peter and Barrett, Jeffrey C. and Burton, Paul R. and Davison, Dan and Donnelly, Peter and Easton, Doug and Evans, David and Leung, Hin-Tak and Marchini, Jonathan L. and Morris, Andrew P. and Spencer, Chris C. 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Opherk, C. and Gonik, M. and Duering, M. and Malik, R. and Jouvent, E. and Herve, D. and Adib-Samii, P. and Bevan, S. and Pianese, L. and Silvestri, S. and Dotti, M. T. and De Stefano, N. and Liem, M. and Boon, E. M. J. and Pescini, F. and Pachai, C. and Bracoud, L. and Muller-Myhsok, B. and Meitinger, T. and Rost, N. and Pantoni, L. and Lesnik Oberstein, S. and Federico, A. and Ragno, M. and Markus, H. S. and Tournier-Lasserve, E. and Rosand, J. and Chabriat, H. and Dichgans, M. (2014) Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL. Stroke, 45 (4). pp. 968-972. ISSN 0039-2499

Rutten-Jacobs, Loes C.A. and Traylor, Matthew and Adib-Samii, Poneh and Thijs, Vincent and Sudlow, Cathie and Rothwell, Peter M. and Boncoraglio, Giorgio and Dichgans, Martin and Bevan, Steve and Meschia, James and Levi, Christopher and Rost, Natalia S. and Rosand, Jonathan and Hassan, Ahamad and Markus, Hugh S. (2015) Common NOTCH3 variants and cerebral small-vessel disease. Stroke, 46 (6). pp. 1482-1487. ISSN 0039-2499

Sankelo, Marja and Flanagan, Julia A. and Machado, Rajiv and Harrison, Rachel and Rudarakanchana, Nung and Morrell, Nicholas and Dixon, Morag and Halme, Maija and Puolijoki, Hannu and Kere, Juha and Elomaa, Outi and Kupari, Markku and Räisänen-Sokolowski, Anne and 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

Simmonds, M. J. and Kavvoura, F. K. and Brand, O. J. and Newby, P. R. and Jackson, L. E. and Hargreaves, C. E. and Franklyn, J. A. and Gough, S. C. L. (2014) Skewed X chromosome inactivation and female preponderance in autoimmune thyroid disease: an association study and meta-analysis. Journal of Clinical Endocrinology and Metabolism, 99 (1). ISSN 0021-972X

Simmonds, Matthew J. and Yesmin, Kadja and Newby, Paul R. and Brand, Oliver J. and Franklyn, Jayne A. and Gough, Stephen C. L. (2010) Confirmation of association of chromosome 5q31-33 with United Kingdom caucasian Graves' disease. Thyroid, 20 (4). pp. 413-417. ISSN 1050-7256

Soon, Elaine and Holmes, Alan M. and Treacy, Carmen M. and Doughty, Natalie J. and Southgate, Laura and Machado, Rajiv D. and Trembath, Richard C. and Jennings, Simon and Barker, Lucy and Nicklin, Paul and Walker, Christoph and Budd, David C. and 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

Southgate, Laura and Machado, Rajiv D. and Snape, Katie M and Primeau, Martin and Dafou, Dimitra and Ruddy, Deborah M and Branney, Peter A and Fisher, Malcolm and Lee, Grace J. and Simpson, Michael A. and He, Yi and Bradshaw, Teisha Y. and Blaumeiser, Bettina and Winship, William S. and Reardon, Willie and Maher, Eamonn R. and FitzPatrick, David R. and Wuyts, Wim and Zenker, Martin and 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

Suntharalingam, Jay and Machado, Rajiv D. and Sharples, Linda D. and Toshner, Mark R. and Sheares, Karen K. and Hughes, Rodney J. and Jenkins, David P. and Trembath, Richard C. and 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

Syed, A. A. and Simmonds, M. J. and Brand, O. J. and Franklyn, J. A. and Gough, S. C. L. and Heward, J. M. (2007) Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. Clinical Endocrinology, 67 (5). pp. 663-667. ISSN 0300-0664

Tarpey, Patrick and Thomas, Shery and Sarvananthan, Nagini and Mallya, Uma and Lisgo, Steven and Talbot, Chris J. and Roberts, Eryl O. and Awan, Musarat and Surendran, Mylvaganam and McLean, Rebecca J. and Reinecke, Robert D. and Langmann, Andrea and Lindner, Susanne and Koch, Martina and Jain, Sunila and Woodruff, Geoffrey and Gale, Richard P. and Bastawrous, Andrew and Degg, Chris and Droutsas, Konstantinos and Asproudis, Ioannis and Zubcov, Alina A. and Pieh, Christina and Veal, Colin D. and Machado, Rajiv D. and Backhouse, Oliver C. and Baumber, Laura and Constantinescu, Cris S. and Brodsky, Michael C. and Hunter, David G. and Hertle, Richard W. and Read, Randy J. and Edkins, Sarah and O'Meara, Sarah and Parker, Adrian and Stevens, Claire and Teague, Jon and Wooster, Richard and Futreal, P. Andrew and Trembath, Richard C. and Stratton, Michael R. and 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

Thomson, J. and Machado, Rajiv and Pauciulo, M. and Morgan, N. and Yacoub, M. and Corris, P. and McNeil, K. and Loyd, J. and 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

Thomson, J. R. and Machado, Rajiv D. and Pauciulo, M. W. and Morgan, N .V. and Humbert, M. and Elliott, G. C. and Ward, K. and Yacoub, M. and Mikhail, G. and Rogers, P. and Newman, J. and Wheeler, L. and Higenbottam, T. and Gibbs, J. S. and Egan, J. and Crozier, A. and Peacock, A. and Allcock, R. and Corris, P. and Loyd, J. E. and 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

Togher, K. L. and O'Keeffe, M. M. and Khashan, A. S. and Gutierrez, Humberto and Kenny, L. C. and O'Keeffe, G. W. (2014) Epigenetic regulation of the placental HSD11B2 barrier and its role as a critical regulator of fetal development. Epigenetics, 9 (6). pp. 816-822. ISSN 1559-2294

Traylor, Matthew and Rutten-Jacobs, Loes C. A. and Holliday, Elizabeth G. and Malik, Rainer and Sudlow, Cathie and Rothwell, Peter M. and Maguire, Jane M. and Koblar, Simon A. and Bevan, Steve and Boncoraglio, Giorgio and Dichgans, Martin and Levi, Chris and Lewis, Cathryn M. and Markus, Hugh S. (2015) Differences in common genetic predisposition to ischemic stroke by age and sex. Stroke: a journal of cerebral circulation, 46 (11). pp. 3042-7. ISSN 0039-2499

Trembath, R. C. and Thomson, J. R. and Machado, Rajiv D. and Morgan, N. V. and Atkinson, C. and Winship, I. and Simonneau, G. and Galie, N. and Loyd, J. E. and Humbert, M. and Nichols, W .C. and Morrell, N. W. and Berg, J. and Manes, A. and McGaughran, J. and 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

Wang, Guoying and Ali Khan, Anokhi and Rodriguez, Alina and Sebert, Sylvain and Kaakinen, Marika and Cauchi, Stéphane and Froguel, Philippe and Hartikainen, Anna-Liisa and 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

Wood, Alice M. and Needham, Michelle and Simmonds, Matthew J. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2009) Phenotypic differences in alpha 1 antitrypsin-deficient sibling pairs may relate to genetic variation. COPD: Journal of Chronic Obstructive Pulmonary Disease, 5 (6). pp. 353-359. ISSN 1541-2555

Wood, Alice M. and Simmonds, Matthew J. and Bayley, Darren L. and Newby, Paul R. and Gough, Stephen C. and Stockley, Robert A. (2008) The TNFalpha gene relates to clinical phenotype in alpha-1-antitrypsin deficiency. Respiratory Research, 9 (52). ISSN 1465-9921

Review

Machado, Rajiv D. and Southgate, Laura and Eichstaedt, Christina A. and Aldred, Micheala A. and Austin, Eric D. and Best, D. Hunter and Chung, Wendy K. and Benjamin, Nicola and Elliott, C. Gregory and Eyries, Mélanie and Fischer, Christine and Gräf, Stefan and Hinderhofer, Katrin and Humbert, Marc and Keiles, Steven B. and Loyd, James E. and Morrell, Nicholas W. and Newman, John H. and Soubrier, Florent and Trembath, Richard C. and 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

Simmonds, M. J. (2015) Utilizing genetic variation to predict and extend long-term kidney transplant function. Transplantation, 99 (10). pp. 2038-2048. ISSN 0041-1337

Soubrier, Florent and Chung, Wendy K. and Machado, Rajiv and Grunig, Ekkehard and Aldred, Michaela and Geraci, Mark and Loyd, James E. and Elliott, C. Gregory and Trembath, Richard C. and 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

Machado, Rajiv D. and 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

Simmonds, Matthew J. (2011) Evaluating the role of B cells in autoimmune disease: more than just initiators of disease? In: Advances in Medicine and Biology. Nova Science Publishers, pp. 151-176. ISBN 9781613243596

Simmonds, Matthew J. and Gough, Stephen C. L. (2011) Endocrine autoimmunity. In: Oxford Textbook of Endocrinology and Diabetes (Second edition). Oxford Textbook series . Oxford University Press, Oxford, pp. 34-44. ISBN 9780199235292

This list was generated on Fri Sep 30 22:35:31 2016 BST.