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Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, Rainald, Marshall, Christian R., Sutcliffe, James S., Skaug, Jennifer, Pinto, Dalila, Vincent, John, Zwaigenbaum, Lonnie, Fernandez, Bridget, Roberts, Wendy, Szatmari, Peter, Scherer, Stephen W.
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
Meyre, David, Delplanque, Jérôme, Chèvre, Jean-Claude, Lecoeur, Cécile, Lobbens, Stéphane, Gallina, Sophie, Durand, Emmanuelle, Vatin, Vincent, Degraeve, Franck, Proença, Christine, Gaget, Stefan, Körner, Antje, Kovacs, Peter, Kiess, Wieland, Tichet, Jean, Marre, Michel, Hartikainen, Anna-Liisa, Horber, Fritz, Potoczna, Natascha, Hercberg, Serge, Levy-Marchal, Claire, Pattou, François, Heude, Barbara, Tauber, Maithé, McCarthy, Mark I, Blakemore, Alexandra I F, Montpetit, Alexandre, Polychronakos, Constantin, Weill, Jacques, Coin, Lachlan J M, Asher, Julian, Elliott, Paul, Järvelin, Marjo-Riitta, Visvikis-Siest, Sophie, Balkau, Beverley, Sladek, Rob, Balding, David, Walley, Andrew, Dina, Christian, Froguel, Philippe
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Published in American journal of human genetics (07.10.2011)
Published in American journal of human genetics (07.10.2011)
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Identification of ten loci associated with height highlights new biological pathways in human growth
Lettre, Guillaume, Jackson, Anne U, Gieger, Christian, Schumacher, Fredrick R, Berndt, Sonja I, Sanna, Serena, Eyheramendy, Susana, Voight, Benjamin F, Butler, Johannah L, Guiducci, Candace, Illig, Thomas, Hackett, Rachel, Heid, Iris M, Jacobs, Kevin B, Lyssenko, Valeriya, Uda, Manuela, Boehnke, Michael, Chanock, Stephen J, Groop, Leif C, Hu, Frank B, Isomaa, Bo, Kraft, Peter, Peltonen, Leena, Salomaa, Veikko, Schlessinger, David, Hunter, David J, Hayes, Richard B, Abecasis, Gonçalo R, Wichmann, H-Erich, Mohlke, Karen L, Hirschhorn, Joel N
Published in Nature genetics (01.05.2008)
Published in Nature genetics (01.05.2008)
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Rare independent mutations in renal salt handling genes contribute to blood pressure variation
Ji, Weizhen, Foo, Jia Nee, O'Roak, Brian J, Zhao, Hongyu, Larson, Martin G, Simon, David B, Newton-Cheh, Christopher, State, Matthew W, Levy, Daniel, Lifton, Richard P
Published in Nature genetics (01.05.2008)
Published in Nature genetics (01.05.2008)
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Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations
Okada, Yukinori, Kubo, Michiaki, Ohmiya, Hiroko, Takahashi, Atsushi, Kumasaka, Natsuhiko, Hosono, Naoya, Maeda, Shiro, Wen, Wanqing, Dorajoo, Rajkumar, Go, Min Jin, Zheng, Wei, Kato, Norihiro, Wu, Jer-Yuarn, Lu, Qi, Tsunoda, Tatsuhiko, Yamamoto, Kazuhiko, Nakamura, Yusuke, Kamatani, Naoyuki, Tanaka, Toshihiro
Published in Nature genetics (01.03.2012)
Published in Nature genetics (01.03.2012)
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Common variants in KCNN3 are associated with lone atrial fibrillation
Ellinor, Patrick T, Lunetta, Kathryn L, Glazer, Nicole L, Pfeufer, Arne, Alonso, Alvaro, Chung, Mina K, Sinner, Moritz F, de Bakker, Paul I W, Mueller, Martina, Lubitz, Steven A, Fox, Ervin, Darbar, Dawood, Smith, Nicholas L, Smith, Jonathan D, Schnabel, Renate B, Soliman, Elsayed Z, Rice, Kenneth M, Van Wagoner, David R, Beckmann, Britt-M, van Noord, Charlotte, Wang, Ke, Ehret, Georg B, Rotter, Jerome I, Hazen, Stanley L, Steinbeck, Gerhard, Smith, Albert V, Launer, Lenore J, Harris, Tamara B, Makino, Seiko, Nelis, Mari, Milan, David J, Perz, Siegfried, Esko, Tõnu, Köttgen, Anna, Moebus, Susanne, Newton-Cheh, Christopher, Li, Man, Möhlenkamp, Stefan, Wang, Thomas J, Linda Kao, W H, Vasan, Ramachandran S, Nöthen, Markus M, MacRae, Calum A, Ch Stricker, Bruno H, Hofman, Albert, Uitterlinden, André G, Levy, Daniel, Boerwinkle, Eric, Metspalu, Andres, Topol, Eric J, Chakravarti, Aravinda, Gudnason, Vilmundur, Psaty, Bruce M, Roden, Dan M, Meitinger, Thomas, Wichmann, H-Erich, Witteman, Jacqueline C M, Barnard, John, Arking, Dan E, Benjamin, Emelia J, Heckbert, Susan R, Kääb, Stefan
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
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Genome-wide association study identifies 1p36.22 as a new susceptibility locus for hepatocellular carcinoma in chronic hepatitis B virus carriers
Zhang, Hongxing, Zhai, Yun, Hu, Zhibin, Wu, Chen, Qian, Ji, Jia, Weihua, Ma, Fuchao, Huang, Wenfeng, Yu, Lixia, Yue, Wei, Wang, Zhifu, Li, Peiyao, Zhang, Yang, Liang, Renxiang, Wei, Zhongliang, Cui, Ying, Xie, Weimin, Cai, Mi, Yu, Xinsen, Yuan, Yunfei, Xia, Xia, Zhang, Xiumei, Yang, Hao, Qiu, Wei, Yang, Jingmin, Gong, Feng, Chen, Minshan, Shen, Hongbing, Lin, Dongxin, Zeng, Yi-Xin, He, Fuchu, Zhou, Gangqiao
Published in Nature genetics (01.09.2010)
Published in Nature genetics (01.09.2010)
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Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
Meng, Linyan, Person, Richard E., Beaudet, Arthur L.
Published in Human molecular genetics (01.07.2012)
Published in Human molecular genetics (01.07.2012)
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Genome-wide association study identifies three new melanoma susceptibility loci
Barrett, Jennifer H, Iles, Mark M, Harland, Mark, Taylor, John C, Aitken, Joanne F, Andresen, Per Arne, Akslen, Lars A, Armstrong, Bruce K, Avril, Marie-Francoise, Azizi, Esther, Bakker, Bert, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A, Corda, Eve, Cust, Anne E, Dębniak, Tadeusz, Duffy, David, Dunning, Alison M, Easton, Douglas F, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Giles, Graham G, Hansson, Johan, Hocevar, Marko, Höiom, Veronica, Hopper, John L, Ingvar, Christian, Janssen, Bart, Jenkins, Mark A, Jönsson, Göran, Kefford, Richard F, Landi, Giorgio, Landi, Maria Teresa, Lang, Julie, Lubiński, Jan, Mackie, Rona, Malvehy, Josep, Martin, Nicholas G, Molven, Anders, Montgomery, Grant W, van Nieuwpoort, Frans A, Novakovic, Srdjan, Olsson, Håkan, Pastorino, Lorenza, Puig, Susana, Puig-Butille, Joan Anton, Randerson-Moor, Juliette, Snowden, Helen, Tuominen, Rainer, Van Belle, Patricia, van der Stoep, Nienke, Whiteman, David C, Zelenika, Diana, Han, Jiali, Fang, Shenying, Lee, Jeffrey E, Wei, Qingyi, Lathrop, G Mark, Gillanders, Elizabeth M, Brown, Kevin M, Goldstein, Alisa M, Kanetsky, Peter A, Mann, Graham J, MacGregor, Stuart, Elder, David E, Amos, Christopher I, Hayward, Nicholas K, Gruis, Nelleke A, Demenais, Florence, Bishop, Julia A Newton, Bishop, D Timothy
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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New susceptibility locus for coronary artery disease on chromosome 3q22.3
Erdmann, Jeanette, Großhennig, Anika, Braund, Peter S, König, Inke R, Hengstenberg, Christian, Hall, Alistair S, Linsel-Nitschke, Patrick, Kathiresan, Sekar, Wright, Ben, Trégouët, David-Alexandre, Cambien, Francois, Bruse, Petra, Aherrahrou, Zouhair, Wagner, Arnika K, Stark, Klaus, Schwartz, Stephen M, Salomaa, Veikko, Elosua, Roberto, Melander, Olle, Voight, Benjamin F, O'Donnell, Christopher J, Peltonen, Leena, Siscovick, David S, Altshuler, David, Merlini, Piera Angelica, Peyvandi, Flora, Bernardinelli, Luisa, Ardissino, Diego, Schillert, Arne, Blankenberg, Stefan, Zeller, Tanja, Wild, Philipp, Schwarz, Daniel F, Tiret, Laurence, Perret, Claire, Schreiber, Stefan, Mokhtari, Nour Eddine El, Schäfer, Arne, März, Winfried, Renner, Wilfried, Bugert, Peter, Klüter, Harald, Schrezenmeir, Jürgen, Rubin, Diana, Ball, Stephen G, Balmforth, Anthony J, Wichmann, H-Erich, Meitinger, Thomas, Fischer, Marcus, Meisinger, Christa, Baumert, Jens, Peters, Annette, Ouwehand, Willem H, Deloukas, Panos, Thompson, John R, Ziegler, Andreas, Samani, Nilesh J, Schunkert, Heribert
Published in Nature genetics (01.03.2009)
Published in Nature genetics (01.03.2009)
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Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate α-secretase activity
Kim, Minji, Suh, Jaehong, Romano, Donna, Truong, Mimy H., Mullin, Kristina, Hooli, Basavaraj, Norton, David, Tesco, Giuseppina, Elliott, Kathy, Wagner, Steven L., Moir, Robert D., Becker, K. David, Tanzi, Rudolph E.
Published in Human molecular genetics (15.10.2009)
Published in Human molecular genetics (15.10.2009)
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Minocycline promotes dendritic spine maturation and improves behavioural performance in the fragile X mouse model
Bilousova, T V, Dansie, L, Ngo, M, Aye, J, Charles, J R, Ethell, D W, Ethell, I M
Published in Journal of medical genetics (01.02.2009)
Published in Journal of medical genetics (01.02.2009)
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Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
Skol, Andrew D, Scott, Laura J, Abecasis, Gonçalo R, Boehnke, Michael
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
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NOTCH2 mutations in Alagille syndrome
Kamath, Binita Maya, Bauer, Robert C, Loomes, Kathleen M, Chao, Grace, Gerfen, Jennifer, Hutchinson, Anne, Hardikar, Winita, Hirschfield, Gideon, Jara, Paloma, Krantz, Ian D, Lapunzina, Pablo, Leonard, Laura, Ling, Simon, Ng, Vicky Lee, Hoang, Phuc Le, Piccoli, David A, Spinner, Nancy Bettina
Published in Journal of medical genetics (01.02.2012)
Published in Journal of medical genetics (01.02.2012)
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