De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

por Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy
Publicado 2014

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

por Williamson, Kathleen A., Rainger, Joe, Floyd, James A.B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S., Wilkie, Andrew O.M., FitzPatrick, David R.
Publicado 2014

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

por Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
Publicado en Hum Mutat (2015)

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

por Mells, George F., Floyd, James A.B., Morley, Katherine I., Cordell, Heather J., Franklin, Christopher S., Shin, So-Youn, Heneghan, Michael A., Neuberger, James M., Donaldson, Peter T., Day, Darren B., Ducker, Samantha J., Muriithi, Agnes W., Wheater, Elizabeth F., Hammond, Christopher J., Dawwas, Muhammad F., Jones, David E., Peltonen, Leena, Alexander, Graeme J., Sandford, Richard N., Anderson, Carl A.
Publicado 2011

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

por Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.
Publicado 2014

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

por Anderson, Carl A., Boucher, Gabrielle, Lees, Charlie W., Franke, Andre, D’Amato, Mauro, Taylor, Kent D., Lee, James C., Goyette, Philippe, Imielinski, Marcin, Latiano, Anna, Lagacé, Caroline, Scott, Regan, Amininejad, Leila, Bumpstead, Suzannah, Baidoo, Leonard, Baldassano, Robert N., Barclay, Murray, Bayless, Theodore M., Brand, Stephan, Büning, Carsten, Colombel, Jean-Frédéric, Denson, Lee A., De Vos, Martine, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Fehrmann, Rudolf S.N., Floyd, James A.B., Florin, Tim, Franchimont, Denis, Franke, Lude, Georges, Michel, Glas, Jürgen, Glazer, Nicole L., Guthery, Stephen L., Haritunians, Talin, Hayward, Nicholas K., Hugot, Jean-Pierre, Jobin, Gilles, Laukens, Debby, Lawrance, Ian, Lémann, Marc, Levine, Arie, Libioulle, Cecile, Louis, Edouard, McGovern, Dermot P., Milla, Monica, Montgomery, Grant W., Morley, Katherine I., Mowat, Craig, Ng, Aylwin, Newman, William, Ophoff, Roel A, Papi, Laura, Palmieri, Orazio, Peyrin-Biroulet, Laurent, Panés, Julián, Phillips, Anne, Prescott, Natalie J., Proctor, Deborah D., Roberts, Rebecca, Russell, Richard, Rutgeerts, Paul, Sanderson, Jeremy, Sans, Miquel, Schumm, Philip, Seibold, Frank, Sharma, Yashoda, Simms, Lisa, Seielstad, Mark, Steinhart, A. Hillary, Targan, Stephan R., van den Berg, Leonard H., Vatn, Morten, Verspaget, Hein, Walters, Thomas, Wijmenga, Cisca, Wilson, David C., Westra, Harm-Jan, Xavier, Ramnik J., Zhao, Zhen Z., Ponsioen, Cyriel Y., Andersen, Vibeke, Torkvist, Leif, Gazouli, Maria, Anagnou, Nicholas P., Karlsen, Tom H., Kupcinskas, Limas, Sventoraityte, Jurgita, Mansfield, John C., Kugathasan, Subra, Silverberg, Mark S., Halfvarson, Jonas, Rotter, Jerome I., Mathew, Christopher G., Griffiths, Anne M., Gearry, Richard, Ahmad, Tariq, Brant, Steven R., Chamaillard, Mathias, Satsangi, Jack, Cho, Judy H., Schreiber, Stefan, Daly, Mark J., Barrett, Jeffrey C., Parkes, Miles, Annese, Vito, Hakonarson, Hakon, Radford-Smith, Graham, Duerr, Richard H., Vermeire, Séverine, Weersma, Rinse K., Rioux, John D.
Publicado 2011

A genome-wide association study of anorexia nervosa

por Boraska, Vesna, Franklin, Christopher S, Floyd, James AB, Thornton, Laura M, Huckins, Laura M, Southam, Lorraine, Rayner, N William, Tachmazidou, Ioanna, Klump, Kelly L, Treasure, Janet, Lewis, Cathryn M, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger AH, Kas, Martien JH, Favaro, Angela, Santonastaso, Paolo, Fernández-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori, Anu, Van Furth, Eric F, Landt, Margarita CT Slof-Op t, Hudson, James I, Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S, Monteleone, Palmiero, Kaplan, Allan S, Karwautz, Andreas, Hakonarson, Hakon, Berrettini, Wade H, Guo, Yiran, Li, Dong, Schork, Nicholas J., Komaki, Gen, Ando, Tetsuya, Inoko, Hidetoshi, Esko, Tõnu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H, Cone, Roger D, Dackor, Jennifer, DeSocio, Janiece E, Hilliard, Christopher E, O'Toole, Julie K, Pantel, Jacques, Szatkiewicz, Jin P, Taico, Chrysecolla, Zerwas, Stephanie, Trace, Sara E, Davis, Oliver SP, Helder, Sietske, Bühren, Katharina, Burghardt, Roland, de Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Scherag, Susann, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Brandys, Marek K, Danner, Unna N, de Kovel, Carolien, Hendriks, Judith, Koeleman, Bobby PC, Ophoff, Roel A, Strengman, Eric, van Elburg, Annemarie A, Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, Dikeos, Dimitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Dick, Danielle M, Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar M, Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen, Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Logan, Darren W, Peltonen, Leena, Ritchie, Graham RS, Barrett, Jeffrey C, Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Collier, David A, Zeggini, Eleftheria, Bulik, Cynthia M
Publicado en Mol Psychiatry (2014)