Items where Subject is "C431 Medical Genetics"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Creators | Keywords | Item Type
Jump to: A | B | C | D | E | F | G | H | J | K | L | M | N | O | P | R | S | T | W
Number of items at this level: 70.

A

Adib-Samii, Poneh, Devan, William, Traylor, Matthew, Lanfranconi, Silvia, Zhang, Cathy R., Cloonan, Lisa, Falcone, Guido J., Radmanesh, Farid, Fitzpatrick, Kaitlin, Kanakis, Allison, Rothwell, Peter M., Sudlow, Cathie, Boncoraglio, Giorgio B., Meschia, James F., Levi, Chris, Dichgans, Martin, Bevan, Steve, Rosand, Jonathan, 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, 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

B

Bennett, Craig L., Sopher, Bryce L. and La Spada, Albert R. (2020) Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly. Heliyon, 6 (6). e04165. ISSN 2405-8440

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

C

Chand, S, Edwards, N.C., Chue, C.D., Jesky, M., Stringer, S., Simmonds, Matthew, Duff, C.E., Cockwell, P., Harper, L., Steeds, R.P., Townend, J.N., Ferro, C.J. and Borrows, R. (2016) Caveolin-1 single-nucleotide polymorphism and arterial stiffness in non-dialysis chronic kidney disease. Nephrology Dialysis Transplantation, 31 (7). pp. 1140-1144. ISSN 0931-0509

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

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

D

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

Deroose, CM, Lecouvet, FE, Collette, L, Oprea-Lager, DE, Kunz, WG, Bidaut, Luc, Verhoeff, JJC, Caramella, C, Lopci, E, Tombal, B, de Geus-Oei, L-F, Fournier, L, Smits, M and deSouza, NM (2020) Impact of the COVID-19 crisis on imaging in oncological trials. European Journal of Nuclear Medicine and Molecular Imaging . ISSN 1619-7089

E

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

F

Frayling, Timothy M., Traylor, Matthew, Mäkelä, Kari-Matti, Kilarski, Laura L., Holliday, Elizabeth G., Devan, William J., Nalls, Mike A., Wiggins, Kerri L., Zhao, Wei, Cheng, Yu-Ching, Achterberg, Sefanja, Malik, Rainer, Sudlow, Cathie, Bevan, Steve, Raitoharju, Emma, Oksala, Niku, Thijs, Vincent, Lemmens, Robin, Lindgren, Arne, Slowik, Agnieszka, Maguire, Jane M., Walters, Matthew, Algra, Ale, Sharma, Pankaj, Attia, John R., Boncoraglio, Giorgio B., Rothwell, Peter M., de Bakker, Paul I. W., Bis, Joshua C., Saleheen, Danish, Kittner, Steven J., Mitchell, Braxton D., Rosand, Jonathan, Meschia, James F., Levi, Christopher, Dichgans, Martin, Lehtimäki, Terho, 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

G

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

Gesierich, Benno, Opherk, Christian, Rosand, Jonathan, Gonik, Mariya, Malik, Rainer, Jouvent, Eric, Hervé, Dominique, Adib-Samii, Poneh, Bevan, Steve, Pianese, Luigi, Silvestri, Serena, Dotti, Maria T., De Stefano, Nicola, van der Grond, Jeroen, Boon, Elles M. J., Pescini, Francesca, Rost, Natalia, Pantoni, Leonardo, Lesnik Oberstein, Saskia A., Federico, Antonio, Ragno, Michele, Markus, Hugh S., Tournier-Lasserve, Elisabeth, Chabriat, Hugues, Dichgans, Martin, 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, 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

H

Hamilton, A., Mittal, S., Barnardo, M. C .N. M., Fuggle, S. V., Friend, P., 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., Newby, P. R., Carr-Smith, J. D., Disanto, G., Allahabadia, A., Armitage, M., Brix, T. H., Taylor, J.C., Vaidya, B., Wass, J. A., Wiersinga, W. M., Weetman, A. P., Ramagopalan, S. V., Franklyn, J. A., 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., Traylor, Matthew, Hysi, Pirro G., Bevan, Stephen, Dichgans, Martin, Rothwell, Peter M., Worrall, Bradford B., Seshadri, Sudha, Sudlow, Cathie, Williams, Frances M. K., 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

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

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

Holliday, Elizabeth G., Traylor, Matthew, Malik, Rainer, Bevan, Stephen, Maguire, Jane, Koblar, Simon A., Sturm, Jonathan, Hankey, Graeme J., Oldmeadow, Christopher, McEvoy, Mark, Sudlow, Cathie, Rothwell, Peter M., Coresh, Josef, Hamet, Pavel, Tremblay, Johanne, Turner, Stephen T., de Andrade, Mariza, Rao, Madhumathi, Schmidt, Reinhold, Crick, Peter A., Robino, Antonietta, Peralta, Carmen A., Jukema, J. Wouter, Mitchell, Paul, Rosas, Sylvia E., Wang, Jie Jin, Scott, Rodney J., Dichgans, Martin, Mitchell, Braxton D., Kao, W.H. Linda, Fox, Caroline S., Levi, Christopher, 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

J

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

K

Kilarski, L. L., Achterberg, S., Devan, W. J., Traylor, M., Malik, R., Lindgren, A., Pare, G., Sharma, P., Slowik, A., Thijs, V., Walters, M., Worrall, B. B., Sale, M. M., Algra, A., Kappelle, L. J., Wijmenga, C., Norrving, B., Sandling, J. K., Ronnblom, L., Goris, A., Franke, A., Sudlow, C., Rothwell, P. M., Levi, C., Holliday, E. G., Fornage, M., Psaty, B., Gretarsdottir, S., Thorsteinsdottir, U., Seshadri, S., Mitchell, B. D., Kittner, S., Clarke, R., Hopewell, J. C., Bis, J. C., Boncoraglio, G. B., Meschia, J., Ikram, M. A., Hansen, B. M., Montaner, J., Thorleifsson, G., Stefanson, K., Rosand, J., de Bakker, P. I. W., Farrall, M., Dichgans, M., 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

L

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

M

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., 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

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

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

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., 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., 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

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

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., 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

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

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

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

McCafferty, Cian, Connelly, William M., Celli, Roberta, Ngomba, Richard T., Nicoletti, Ferdinando and Crunelli, Vincenzo (2018) Genetic rescue of absence seizures. CNS Neuroscience & Therapeutics . ISSN 1755-5930

McGlasson, Sarah, Rannikmäe, Kristiina, Bevan, Steven, Logan, Clare, Bicknell, Louise S., Jury, Alexa, Jackson, Andrew P., Markus, Hugh S., Sudlow, Cathie and Hunt, David P. J. (2017) Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke. Wellcome Open Research, 2 . p. 106. ISSN 2398-502X

N

Nejentsev, Sergey, Howson, Joanna M. M., Walker, Neil M., Szeszko, Jeffrey, Field, Sarah F., Stevens, Helen E., Reynolds, Pamela, Hardy, Matthew, King, Erna, Masters, Jennifer, Hulme, John, Maier, Lisa M., Smyth, Deborah, Bailey, Rebecca, Cooper, Jason D., Ribas, Gloria, Campbell, R. Duncan, Clayton, David G., Todd, John A., Burton, Paul R., Clayton, David G., Cardon, Lon R., Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P., McCarthy, Mark I., Ouwehand, Willem H., Samani, Nilesh J., Todd, John A., Donnelly, Peter, Barrett, Jeffrey C., Burton, Paul R., Davison, Dan, Donnelly, Peter, Easton, Doug, Evans, David, Leung, Hin-Tak, Marchini, Jonathan L., Morris, Andrew P., Spencer, Chris C. A., Tobin, Martin D., Cardon, Lon R., Clayton, David G., Attwood, Antony P., Boorman, James P., Cant, Barbara, Everson, Ursula, Hussey, Judith M., Jolley, Jennifer D., Knight, Alexandra S., Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V., Stevens, Helen E., Taylor, Niall C., Walters, Graham R., Walker, Neil M., Watkins, Nicholas A., Winzer, Thilo, Todd, John A., Ouwehand, Willem H., Jones, Richard W., McArdle, Wendy L., Ring, Susan M., Strachan, David P., Pembrey, Marcus, Breen, Gerome, St Clair, David, Caesar, Sian, Gordon-Smith, Katherine, Jones, Lisa, Fraser, Christine, Green, Elaine K., Grozeva, Detelina, Hamshere, Marian L., Holmans, Peter A., Jones, Ian R., Kirov, George, Moskvina, Valentina, Nikolov, Ivan, O’Donovan, Michael C., Owen, Michael J., Craddock, Nick, Collier, David A., Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H., Nicol Ferrier, I., Ball, Stephen G., Balmforth, Anthony J., Barrett, Jennifer H., Bishop, D. Timothy, Iles, Mark M., Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S., Braund, Peter S., Burton, Paul R., Dixon, Richard J., Mangino, Massimo, Stevens, Suzanne, Tobin, Martin D., Thompson, John R., Samani, Nilesh J., Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W., Nimmo, Elaine R., Satsangi, Jack, Fisher, Sheila A., Forbes, Alastair, Lewis, Cathryn M., Onnie, Clive M., Prescott, Natalie J., Sanderson, Jeremy, Mathew, Christopher G., Barbour, Jamie, Khalid Mohiuddin, M., Todhunter, Catherine E., Mansfield, John C., Ahmad, Tariq, Cummings, Fraser R., Jewell, Derek P., Webster, John, Brown, Morris J., Clayton, David G., Lathrop, G. Mark, Connell, John, Dominiczak, Anna, Samani, Nilesh J., Braga, Carolina A., Burke, Beverley, Dobson, Richard, Gungadoo, Johannie, Lee, Kate L., Munroe, Patricia B., Newhouse, Stephen J., Onipinla, Abiodun, Wallace, Chris, Xue, Mingzhan, Caulfield, Mark, Farrall, Martin, Barton, Anne, Bruce, Ian N., Donovan, Hannah, Eyre, Steve, Gilbert, Paul D., Hider, Samantha L., Hinks, Anne M., John, Sally L., Potter, Catherine, Silman, Alan J., Symmons, Deborah P. M., Thomson, Wendy, Worthington, Jane, Clayton, David G., Dunger, David B., Nutland, Sarah, Stevens, Helen E., Walker, Neil M., Widmer, Barry, Todd, John A., Frayling, Timothy M., Freathy, Rachel M., Lango, Hana, Perry, John R. B., Shields, Beverley M., Weedon, Michael N., Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Elliott, Kate S., Groves, Christopher J., Lindgren, Cecilia M., Rayner, Nigel W., Timpson, Nicholas J., Zeggini, Eleftheria, McCarthy, Mark I., Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V. S., Bradbury, Linda A., Farrar, Claire, Pointon, Jennifer J., Wordsworth, Paul, Brown, Matthew A., Franklyn, Jayne A., Heward, Joanne M., Simmonds, Matthew J., Gough, Stephen C. L., Seal, Sheila, Stratton, Michael R., Rahman, Nazneen, Ban, Maria, Goris, An, Sawcer, Stephen J., Compston, Alastair, Conway, David, Jallow, Muminatou, Newport, Melanie, Sirugo, Giorgio, Rockett, Kirk A., Kwiatkowski, Dominic P., Bryan, Claire, Bumpstead, Suzannah J., Chaney, Amy, Downes, Kate, Ghori, Jilur, Gwilliam, Rhian, Hunt, Sarah E., Inouye, Michael, Keniry, Andrew, King, Emma, McGinnis, Ralph, Potter, Simon, Ravindrarajah, Rathi, Whittaker, Pamela, Withers, David, Deloukas, Panos, Leung, Hin-Tak, Nutland, Sarah, Stevens, Helen E., Walker, Neil M., Todd, John A., Easton, Doug, Clayton, David G., Burton, Paul R., Tobin, Martin D., Barrett, Jeffrey C., Evans, David, Morris, Andrew P., Cardon, Lon R., Cardin, Niall J., Davison, Dan, Ferreira, Teresa, Pereira-Gale, Joanne, Hallgrimsdóttir, Ingeleif B., Howie, Bryan N., Marchini, Jonathan L., Spencer, Chris C. A., Su, Zhan, Ying Teo, Yik, Vukcevic, Damjan, Donnelly, Peter, Bentley, David, Brown, Matthew A., Cardon, Lon R., Caulfield, Mark, Clayton, David G., Compston, Alistair, Craddock, Nick, Deloukas, Panos, Donnelly, Peter, Farrall, Martin, Gough, Stephen C. L., Hall, Alistair S., Hattersley, Andrew T., Hill, Adrian V. S., Kwiatkowski, Dominic P., Mathew, Christopher G., McCarthy, Mark I., Ouwehand, Willem H., Parkes, Miles, Pembrey, Marcus, Rahman, Nazneen, Samani, Nilesh J., Stratton, Michael R., Todd, John A. and Worthington, Jane (2007) Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature, 450 (7171). pp. 887-892. ISSN 0028-0836

O

Opherk, C., Gonik, M., Duering, M., Malik, R., Jouvent, E., Herve, D., Adib-Samii, P., Bevan, S., Pianese, L., Silvestri, S., Dotti, M. T., De Stefano, N., Liem, M., Boon, E. M. J., Pescini, F., Pachai, C., Bracoud, L., Muller-Myhsok, B., Meitinger, T., Rost, N., Pantoni, L., Lesnik Oberstein, S., Federico, A., Ragno, M., Markus, H. S., Tournier-Lasserve, E., Rosand, J., 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

P

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

R

Rainger, Joe, Williamson, Kathleen A., Soares, Dinesh C., Truch, Julia, Kurian, Dominic, Gillessen-Kaesbach, Gabriele, Seawright, Anne, Prendergast, James, Halachev, Mihail, Wheeler, Ann, McTeir, Lynn, Gill, Andrew C., van Heyningen, Veronica, Davey, Megan G. and FitzPatrick, David R. (2017) A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Human Mutation, 38 (8). pp. 942-946. ISSN 1059-7794

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

Rowan, Andrew, Halford, Sarah, Gaasenbeek, Michelle, Kemp, Zoe, Sieber, Oliver, Volikos, Emmanouil, Davison, Eleanor, Fiegler, Heike, Carter, Nigel, Talbot, Ian, Silver, Andrew and Tomlinson, Ian (2005) Refining molecular analysis in the pathways of colorectal carcinogenesis. Clinical Gastroenterology and Hepatology, 3 (11). pp. 1115-1123. ISSN 1542-3565

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

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

S

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

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

Simmonds, M. J., Kavvoura, F. K., Brand, O. J., Newby, P. R., Jackson, L. E., Hargreaves, C. E., 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. (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

Simmonds, Matthew J., Yesmin, Kadja, Newby, Paul R., Brand, Oliver J., 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, 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

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

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

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

Syed, A. A., Simmonds, M. J., Brand, O. J., Franklyn, J. A., 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

T

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

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

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

Togher, K. L., O'Keeffe, M. M., Khashan, A. S., Gutierrez, Humberto, 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, 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, Rutten-Jacobs, Loes C. A., Holliday, Elizabeth G., Malik, Rainer, Sudlow, Cathie, Rothwell, Peter M., Maguire, Jane M., Koblar, Simon A., Bevan, Steve, Boncoraglio, Giorgio, Dichgans, Martin, Levi, Chris, 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

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

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

W

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

Wood, Alice M., Needham, Michelle, Simmonds, Matthew J., Newby, Paul R., 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., Simmonds, Matthew J., Bayley, Darren L., Newby, Paul R., 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

This list was generated on Thu Oct 29 00:48:30 2020 GMT.