Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR

Por Albers, Cornelis A, Paul, Dirk S, Schulze, Harald, Freson, Kathleen, Stephens, Jonathan C, Smethurst, Peter A, Jolley, Jennifer D, Cvejic, Ana, Kostadima, Myrto, Bertone, Paul, Breuning, Martijn H, Debili, Najet, Deloukas, Panos, Favier, Rémi, Fiedler, Janine, Hobbs, Catherine M, Huang, Ni, Hurles, Matthew E, Kiddle, Graham, Krapels, Ingrid, Nurden, Paquita, Ruivenkamp, Claudia A L, Sambrook, Jennifer G, Smith, Kenneth, Stemple, Derek L, Strauss, Gabriele, Thys, Chantal, van Geet, Christel, Newbury-Ecob, Ruth, Ouwehand, Willem H, Ghevaert, Cedric
Publicado em 2012

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders

Por Westbury, Sarah K, Turro, Ernest, Greene, Daniel, Lentaigne, Claire, Kelly, Anne M, Bariana, Tadbir K, Simeoni, Ilenia, Pillois, Xavier, Attwood, Antony, Austin, Steve, Jansen, Sjoert BG, Bakchoul, Tamam, Crisp-Hihn, Abi, Erber, Wendy N, Favier, Rémi, Foad, Nicola, Gattens, Michael, Jolley, Jennifer D, Liesner, Ri, Meacham, Stuart, Millar, Carolyn M, Nurden, Alan T, Peerlinck, Kathelijne, Perry, David J, Poudel, Pawan, Schulman, Sol, Schulze, Harald, Stephens, Jonathan C, Furie, Bruce, Robinson, Peter N, van Geet, Chris, Rendon, Augusto, Gomez, Keith, Laffan, Michael A, Lambert, Michele P, Nurden, Paquita, Ouwehand, Willem H, Richardson, Sylvia, Mumford, Andrew D, Freson, Kathleen
Publicado no Genome Med (2015)

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

Por Simeoni, Ilenia, Stephens, Jonathan C., Hu, Fengyuan, Deevi, Sri V. V., Megy, Karyn, Bariana, Tadbir K., Lentaigne, Claire, Schulman, Sol, Sivapalaratnam, Suthesh, Vries, Minka J. A., Westbury, Sarah K., Greene, Daniel, Papadia, Sofia, Alessi, Marie-Christine, Attwood, Antony P., Ballmaier, Matthias, Baynam, Gareth, Bermejo, Emilse, Bertoli, Marta, Bray, Paul F., Bury, Loredana, Cattaneo, Marco, Collins, Peter, Daugherty, Louise C., Favier, Rémi, French, Deborah L., Furie, Bruce, Gattens, Michael, Germeshausen, Manuela, Ghevaert, Cedric, Goodeve, Anne C., Guerrero, Jose A., Hampshire, Daniel J., Hart, Daniel P., Heemskerk, Johan W. M., Henskens, Yvonne M. C., Hill, Marian, Hogg, Nancy, Jolley, Jennifer D., Kahr, Walter H., Kelly, Anne M., Kerr, Ron, Kostadima, Myrto, Kunishima, Shinji, Lambert, Michele P., Liesner, Ri, López, José A., Mapeta, Rutendo P., Mathias, Mary, Millar, Carolyn M., Nathwani, Amit, Neerman-Arbez, Marguerite, Nurden, Alan T., Nurden, Paquita, Othman, Maha, Peerlinck, Kathelijne, Perry, David J., Poudel, Pawan, Reitsma, Pieter, Rondina, Matthew T., Smethurst, Peter A., Stevenson, William, Szkotak, Artur, Tuna, Salih, van Geet, Christel, Whitehorn, Deborah, Wilcox, David A., Zhang, Bin, Revel-Vilk, Shoshana, Gresele, Paolo, Bellissimo, Daniel B., Penkett, Christopher J., Laffan, Michael A., Mumford, Andrew D., Rendon, Augusto, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Turro, Ernest
Publicado no Blood (2016)

Common variants near MC4R are associated with fat mass, weight and risk of obesity

Por Loos, Ruth J F, Lindgren, Cecilia M, Li, Shengxu, Wheeler, Eleanor, Zhao, Jing Hua, Prokopenko, Inga, Inouye, Michael, Freathy, Rachel M, Attwood, Antony P, Beckmann, Jacques S, Berndt, Sonja I, Bergmann, Sven, Bennett, Amanda J, Bingham, Sheila A, Bochud, Murielle, Brown, Morris, Cauchi, Stéphane, Connell, John M, Cooper, Cyrus, Smith, George Davey, Day, Ian, Dina, Christian, De, Subhajyoti, Dermitzakis, Emmanouil T, Doney, Alex S F, Elliott, Katherine S, Elliott, Paul, Evans, David M, Farooqi, I Sadaf, Froguel, Philippe, Ghori, Jilur, Groves, Christopher J, Gwilliam, Rhian, Hadley, David, Hall, Alistair S, Hattersley, Andrew T, Hebebrand, Johannes, Heid, Iris M, Herrera, Blanca, Hinney, Anke, Hunt, Sarah E, Jarvelin, Marjo-Riitta, Johnson, Toby, Jolley, Jennifer D M, Karpe, Fredrik, Keniry, Andrew, Khaw, Kay-Tee, Luben, Robert N, Mangino, Massimo, Marchini, Jonathan, McArdle, Wendy L, McGinnis, Ralph, Meyre, David, Munroe, Patricia B, Morris, Andrew D, Ness, Andrew R, Neville, Matthew J, Nica, Alexandra C, Ong, Ken K, O'Rahilly, Stephen, Owen, Katharine R, Palmer, Colin N A, Papadakis, Konstantinos, Potter, Simon, Pouta, Anneli, Qi, Lu, Randall, Joshua C, Rayner, Nigel W, Ring, Susan M, Sandhu, Manjinder S, Scherag, André, Sims, Matthew A, Song, Kijoung, Soranzo, Nicole, Speliotes, Elizabeth K, Syddall, Holly E, Teichmann, Sarah A, Timpson, Nicholas J, Tobias, Jonathan H, Uda, Manuela, Vogel, Carla I Ganz, Wallace, Chris, Waterworth, Dawn M, Weedon, Michael N, Willer, Cristen J, Wraight, Vicki L, Yuan, Xin, Zeggini, Eleftheria, Hirschhorn, Joel N, Strachan, David P, Ouwehand, Willem H, Caulfield, Mark J, Samani, Nilesh J, Frayling, Timothy M, Vollenweider, Peter, Waeber, Gerard, Mooser, Vincent, Deloukas, Panos, McCarthy, Mark I, Wareham, Nicholas J, Barroso, Inês, Jacobs, Kevin B, Chanock, Stephen J, Hayes, Richard B, Lamina, Claudia, Gieger, Christian, Illig, Thomas, Meitinger, Thomas, Wichmann, H-Erich, Kraft, Peter, Hankinson, Susan E, Hunter, David J, Hu, Frank B, Lyon, Helen N, Voight, Benjamin F, Ridderstrale, Martin, Groop, Leif, Scheet, Paul, Sanna, Serena, Abecasis, Goncalo R, Albai, Giuseppe, Nagaraja, Ramaiah, Schlessinger, David, Jackson, Anne U, Tuomilehto, Jaakko, Collins, Francis S, Boehnke, Michael, Mohlke, Karen L
Publicado em 2008

FTO genotype is associated with phenotypic variability of body mass index

Por Yang, Jian, Loos, Ruth J. F., Powell, Joseph E., Medland, Sarah E., Speliotes, Elizabeth K., Chasman, Daniel I., Rose, Lynda M., Thorleifsson, Gudmar, Steinthorsdottir, Valgerdur, Mägi, Reedik, Waite, Lindsay, Smith, Albert Vernon, Yerges-Armstrong, Laura M., Monda, Keri L., Hadley, David, Mahajan, Anubha, Li, Guo, Kapur, Karen, Vitart, Veronique, Huffman, Jennifer E., Wang, Sophie R., Palmer, Cameron, Esko, Tõnu, Fischer, Krista, Zhao, Jing Hua, Demirkan, Ayşe, Isaacs, Aaron, Feitosa, Mary F., Luan, Jian’an, Heard-Costa, Nancy L., White, Charles, Jackson, Anne U., Preuss, Michael, Ziegler, Andreas, Eriksson, Joel, Kutalik, Zoltán, Frau, Francesca, Nolte, Ilja M., Van Vliet-Ostaptchouk, Jana V., Hottenga, Jouke-Jan, Jacobs, Kevin B., Verweij, Niek, Goel, Anuj, Medina-Gomez, Carolina, Estrada, Karol, Bragg-Gresham, Jennifer Lynn, Sanna, Serena, Sidore, Carlo, Tyrer, Jonathan, Teumer, Alexander, Prokopenko, Inga, Mangino, Massimo, Lindgren, Cecilia M., Assimes, Themistocles L., Shuldiner, Alan R., Hui, Jennie, Beilby, John P., McArdle, Wendy L., Hall, Per, Haritunians, Talin, Zgaga, Lina, Kolcic, Ivana, Polasek, Ozren, Zemunik, Tatijana, Oostra, Ben A., Junttila, M. Juhani, Grönberg, Henrik, Schreiber, Stefan, Peters, Annette, Hicks, Andrew A., Stephens, Jonathan, Foad, Nicola S., Laitinen, Jaana, Pouta, Anneli, Kaakinen, Marika, Willemsen, Gonneke, Vink, Jacqueline M., Wild, Sarah H., Navis, Gerjan, Asselbergs, Folkert W., Homuth, Georg, John, Ulrich, Iribarren, Carlos, Harris, Tamara, Launer, Lenore, Gudnason, Vilmundur, O’Connell, Jeffrey R., Boerwinkle, Eric, Cadby, Gemma, Palmer, Lyle J., James, Alan L., Musk, Arthur W., Ingelsson, Erik, Psaty, Bruce M., Beckmann, Jacques S., Waeber, Gerard, Vollenweider, Peter, Hayward, Caroline, Wright, Alan F., Rudan, Igor, Groop, Leif C., Metspalu, Andres, Khaw, Kay Tee, van Duijn, Cornelia M., Borecki, Ingrid B., Province, Michael A., Wareham, Nicholas J., Tardif, Jean-Claude, Huikuri, Heikki V., Cupples, L. Adrienne, Atwood, Larry D., Fox, Caroline S., Boehnke, Michael, Collins, Francis S., Mohlke, Karen L., Erdmann, Jeanette, Schunkert, Heribert, Hengstenberg, Christian, Stark, Klaus, Lorentzon, Mattias, Ohlsson, Claes, Cusi, Daniele, Staessen, Jan A., Van der Klauw, Melanie M., Pramstaller, Peter P., Kathiresan, Sekar, Jolley, Jennifer D., Ripatti, Samuli, Jarvelin, Marjo-Riitta, de Geus, Eco J. C., Boomsma, Dorret I., Penninx, Brenda, Wilson, James F., Campbell, Harry, Chanock, Stephen J., van der Harst, Pim, Hamsten, Anders, Watkins, Hugh, Hofman, Albert, Witteman, Jacqueline C., Zillikens, M. Carola, Uitterlinden, André G., Rivadeneira, Fernando, Zillikens, M. Carola, Kiemeney, Lambertus A., Vermeulen, Sita H., Abecasis, Goncalo R., Schlessinger, David, Schipf, Sabine, Stumvoll, Michael, Tönjes, Anke, Spector, Tim D., North, Kari E., Lettre, Guillaume, McCarthy, Mark I., Berndt, Sonja I., Heath, Andrew C., Madden, Pamela A. F., Nyholt, Dale R., Montgomery, Grant W., Martin, Nicholas G., McKnight, Barbara, Strachan, David P., Hill, William G., Snieder, Harold, Ridker, Paul M., Thorsteinsdottir, Unnur, Stefansson, Kari, Frayling, Timothy M., Hirschhorn, Joel N., Goddard, Michael E., Visscher, Peter M.
Publicado em 2012