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Genomic privacy and limits of individual detection in a pool
Sankararaman, Sriram, Obozinski, Guillaume, Jordan, Michael I, Halperin, Eran
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk
Broderick, Peter, Chubb, Daniel, Johnson, David C, Weinhold, Niels, Försti, Asta, Lloyd, Amy, Olver, Bianca, Ma, Yussanne P, Dobbins, Sara E, Walker, Brian A, Davies, Faith E, Gregory, Walter A, Child, J Anthony, Ross, Fiona M, Jackson, Graham H, Neben, Kai, Jauch, Anna, Hoffmann, Per, Mühleisen, Thomas W, Nöthen, Markus M, Moebus, Susanne, Tomlinson, Ian P, Goldschmidt, Hartmut, Hemminki, Kari, Morgan, Gareth J, Houlston, Richard S
Published in Nature genetics (01.01.2012)
Published in Nature genetics (01.01.2012)
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Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
Wang, Kai, Baldassano, Robert, Zhang, Haitao, Qu, Hui-Qi, Imielinski, Marcin, Kugathasan, Subra, Annese, Vito, Dubinsky, Marla, Rotter, Jerome I., Russell, Richard K., Bradfield, Jonathan P., Sleiman, Patrick M.A., Glessner, Joseph T., Walters, Thomas, Hou, Cuiping, Kim, Cecilia, Frackelton, Edward C., Garris, Maria, Doran, James, Romano, Claudio, Catassi, Carlo, Van Limbergen, Johan, Guthery, Stephen L., Denson, Lee, Piccoli, David, Silverberg, Mark S., Stanley, Charles A., Monos, Dimitri, Wilson, David C., Griffiths, Anne, Grant, Struan F.A., Satsangi, Jack, Polychronakos, Constantin, Hakonarson, Hakon
Published in Human molecular genetics (15.05.2010)
Published in Human molecular genetics (15.05.2010)
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Abnormal p38α mitogen-activated protein kinase signaling in dilated cardiomyopathy caused by lamin A/C gene mutation
MUCHIR, Antoine, WEI WU, CHOI, Jason C, IWATA, Shinichi, MORROW, John, HOMMA, Shunichi, WORMAN, Howard J
Published in Human molecular genetics (01.10.2012)
Published in Human molecular genetics (01.10.2012)
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Mutation load and rapid adaptation favour outcrossing over self-fertilization
Morran, Levi T., Parmenter, Michelle D., Phillips, Patrick C.
Published in Nature (London) (19.11.2009)
Published in Nature (London) (19.11.2009)
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TACI is mutant in common variable immunodeficiency and IgA deficiency
Castigli, Emanuela, Wilson, Stephen A, Garibyan, Lilit, Rachid, Rima, Bonilla, Francisco, Schneider, Lynda, Geha, Raif S
Published in Nature genetics (01.08.2005)
Published in Nature genetics (01.08.2005)
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A single positively selected West Nile viral mutation confers increased virogenesis in American crows
Brault, Aaron C, Huang, Claire Y-H, Langevin, Stanley A, Kinney, Richard M, Bowen, Richard A, Ramey, Wanichaya N, Panella, Nicholas A, Holmes, Edward C, Powers, Ann M, Miller, Barry R
Published in Nature genetics (01.09.2007)
Published in Nature genetics (01.09.2007)
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Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay
Saitsu, Hirotomo, Tohyama, Jun, Kumada, Tatsuro, Egawa, Kiyoshi, Hamada, Keisuke, Okada, Ippei, Mizuguchi, Takeshi, Osaka, Hitoshi, Miyata, Rie, Furukawa, Tomonori, Haginoya, Kazuhiro, Hoshino, Hideki, Goto, Tomohide, Hachiya, Yasuo, Yamagata, Takanori, Saitoh, Shinji, Nagai, Toshiro, Nishiyama, Kiyomi, Nishimura, Akira, Miyake, Noriko, Komada, Masayuki, Hayashi, Kenji, Hirai, Syu-ichi, Ogata, Kazuhiro, Kato, Mitsuhiro, Fukuda, Atsuo, Matsumoto, Naomichi
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J., Sezgin, Orhan, Beynon, Andy J., Strom, Tim M., Pennings, Ronald J.E., Zazo Seco, Celia, Oonk, Anne M.M., Kunst, Henricus P.M., Domínguez-Ruiz, María, García-Arumi, Ana M., del Campo, Miguel, Villamar, Manuela, Hoefsloot, Lies H., Moreno, Felipe, Admiraal, Ronald J.C., del Castillo, Ignacio, Kremer, Hannie
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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A genome-wide association study of acenocoumarol maintenance dosage
Teichert, Martina, Eijgelsheim, Mark, Rivadeneira, Fernando, Uitterlinden, Andrė G., van Schaik, Ron H.N., Hofman, Albert, De Smet, Peter A.G.M., van Gelder, Teun, Visser, Loes E., Stricker, Bruno H.Ch
Published in Human molecular genetics (01.10.2009)
Published in Human molecular genetics (01.10.2009)
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Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
Scionti, Isabella, Greco, Francesca, Ricci, Giulia, Govi, Monica, Arashiro, Patricia, Vercelli, Liliana, Berardinelli, Angela, Angelini, Corrado, Antonini, Giovanni, Cao, Michelangelo, Di Muzio, Antonio, Moggio, Maurizio, Morandi, Lucia, Ricci, Enzo, Rodolico, Carmelo, Ruggiero, Lucia, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Trevisan, Carlo Pietro, Galluzzi, Giuliana, Wright, Woodring, Zatz, Mayana, Tupler, Rossella
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Two CES1 Gene Mutations Lead to Dysfunctional Carboxylesterase 1 Activity in Man: Clinical Significance and Molecular Basis
Zhu, Hao-Jie, Patrick, Kennerly S., Yuan, Hong-Jie, Wang, Jun-Sheng, Donovan, Jennifer L., DeVane, C. Lindsay, Malcolm, Robert, Johnson, Julie A., Youngblood, Geri L., Sweet, Douglas H., Langaee, Taimour Y., Markowitz, John S.
Published in American journal of human genetics (01.06.2008)
Published in American journal of human genetics (01.06.2008)
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Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis
Chiang, Pei-Wen, Wang, Juan, Chen, Yang, Fu, Quan, Zhong, Jing, Chen, Yanhua, Yi, Xin, Wu, Renhua, Gan, Haixue, Shi, Yong, Chen, Yanling, Barnett, Christopher, Wheaton, Dianna, Day, Megan, Sutherland, Joanne, Heon, Elise, Weleber, Richard G, Gabriel, Luis Alexandre Rassi, Cong, Peikuan, Chuang, KuangHsiang, Ye, Sheng, Sallum, Juliana Maria Ferraz, Qi, Ming
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease
Cario, Holger, Smith, Desirée E.C., Blom, Henk, Blau, Nenad, Bode, Harald, Holzmann, Karlheinz, Pannicke, Ulrich, Hopfner, Karl-Peter, Rump, Eva-Maria, Ayric, Zuleya, Kohne, Elisabeth, Debatin, Klaus-Michael, Smulders, Yvo, Schwarz, Klaus
Published in American journal of human genetics (11.02.2011)
Published in American journal of human genetics (11.02.2011)
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A genome-wide association study identifies GLT6D1 as a susceptibility locus for periodontitis
Schaefer, Arne S., Richter, Gesa M., Nothnagel, Michael, Manke, Thomas, Dommisch, Henrik, Jacobs, Gunnar, Arlt, Alexander, Rosenstiel, Philip, Noack, Barbara, Groessner-Schreiber, Birte, Jepsen, Søren, Loos, Bruno G., Schreiber, Stefan
Published in Human molecular genetics (01.02.2010)
Published in Human molecular genetics (01.02.2010)
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Genetic variation in the prostate stem cell antigen gene PSCA confers susceptibility to urinary bladder cancer
Wu, Xifeng, Ye, Yuanqing, Kiemeney, Lambertus A, Sulem, Patrick, Rafnar, Thorunn, Matullo, Giuseppe, Seminara, Daniela, Yoshida, Teruhiko, Saeki, Norihisa, Andrew, Angeline S, Dinney, Colin P, Czerniak, Bogdan, Zhang, Zuo-feng, Kiltie, Anne E, Bishop, D Timothy, Vineis, Paolo, Porru, Stefano, Buntinx, Frank, Kellen, Eliane, Zeegers, Maurice P, Kumar, Rajiv, Rudnai, Peter, Gurzau, Eugene, Koppova, Kvetoslava, Mayordomo, Jose Ignacio, Sanchez, Manuel, Saez, Berta, Lindblom, Annika, de Verdier, Petra, Steineck, Gunnar, Mills, Gordon B, Schned, Alan, Guarrera, Simonetta, Polidoro, Silvia, Chang, Shen-Chih, Lin, Jie, Chang, David W, Hale, Katherine S, Majewski, Tadeusz, Grossman, H Barton, Thorlacius, Steinunn, Thorsteinsdottir, Unnur, Aben, Katja K H, Witjes, J Alfred, Stefansson, Kari, Amos, Christopher I, Karagas, Margaret R, Gu, Jian
Published in Nature genetics (01.09.2009)
Published in Nature genetics (01.09.2009)
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Genome-wide association analysis identifies multiple loci related to resting heart rate
Eijgelsheim, Mark, Newton-Cheh, Christopher, Sotoodehnia, Nona, de Bakker, Paul I.W., Müller, Martina, Morrison, Alanna C., Smith, Albert V., Isaacs, Aaron, Sanna, Serena, Dörr, Marcus, Navarro, Pau, Fuchsberger, Christian, Nolte, Ilja M., de Geus, Eco J.C., Estrada, Karol, Hwang, Shih-Jen, Bis, Joshua C., Rückert, Ina-Maria, Alonso, Alvaro, Launer, Lenore J., Hottenga, Jouke Jan, Rivadeneira, Fernando, Noseworthy, Peter A., Rice, Kenneth M., Perz, Siegfried, Arking, Dan E., Spector, Tim D., Kors, Jan A., Aulchenko, Yurii S., Tarasov, Kirill V., Homuth, Georg, Wild, Sarah H., Marroni, Fabio, Gieger, Christian, Licht, Carmilla M., Prineas, Ronald J., Hofman, Albert, Rotter, Jerome I., Hicks, Andrew A., Ernst, Florian, Najjar, Samer S., Wright, Alan F., Peters, Annette, Fox, Ervin R., Oostra, Ben A., Kroemer, Heyo K., Couper, David, Völzke, Henry, Campbell, Harry, Meitinger, Thomas, Uda, Manuela, Witteman, Jacqueline C.M., Psaty, Bruce M., Wichmann, H-Erich, Harris, Tamara B., Kääb, Stefan, Siscovick, David S., Jamshidi, Yalda, Uitterlinden, André G., Folsom, Aaron R., Larson, Martin G., Wilson, James F., Penninx, Brenda W., Snieder, Harold, Pramstaller, Peter P., van Duijn, Cornelia M., Lakatta, Edward G., Felix, Stephan B., Gudnason, Vilmundur, Pfeufer, Arne, Heckbert, Susan R., Stricker, Bruno H.Ch, Boerwinkle, Eric, O'Donnell, Christopher J.
Published in Human molecular genetics (01.10.2010)
Published in Human molecular genetics (01.10.2010)
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The Population Reference Sample, POPRES: A Resource for Population, Disease, and Pharmacological Genetics Research
Nelson, Matthew R., Bryc, Katarzyna, King, Karen S., Indap, Amit, Boyko, Adam R., Novembre, John, Briley, Linda P., Maruyama, Yuka, Waterworth, Dawn M., Waeber, Gérard, Vollenweider, Peter, Oksenberg, Jorge R., Hauser, Stephen L., Stirnadel, Heide A., Kooner, Jaspal S., Chambers, John C., Jones, Brendan, Mooser, Vincent, Bustamante, Carlos D., Roses, Allen D., Burns, Daniel K., Ehm, Margaret G., Lai, Eric H.
Published in American journal of human genetics (01.09.2008)
Published in American journal of human genetics (01.09.2008)
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