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Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
Graubert, Timothy A, Shen, Dong, Ding, Li, Okeyo-Owuor, Theresa, Lunn, Cara L, Shao, Jin, Krysiak, Kilannin, Harris, Christopher C, Koboldt, Daniel C, Larson, David E, McLellan, Michael D, Dooling, David J, Abbott, Rachel M, Fulton, Robert S, Schmidt, Heather, Kalicki-Veizer, Joelle, O'Laughlin, Michelle, Grillot, Marcus, Baty, Jack, Heath, Sharon, Frater, John L, Nasim, Talat, Link, Daniel C, Tomasson, Michael H, Westervelt, Peter, DiPersio, John F, Mardis, Elaine R, Ley, Timothy J, Wilson, Richard K, Walter, Matthew J
Published in Nature genetics (11.12.2011)
Published in Nature genetics (11.12.2011)
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
Sklar, Pamela, Ripke, Stephan, Scott, Laura J, Andreassen, Ole A, Cichon, Sven, Craddock, Nick, Edenberg, Howard J, Nurnberger, John I, Rietschel, Marcella, Blackwood, Douglas, Corvin, Aiden, Flickinger, Matthew, Guan, Weihua, Mattingsdal, Morten, McQuillin, Andrew, Kwan, Phoenix, Wienker, Thomas F, Daly, Mark, Dudbridge, Frank, Holmans, Peter A, Lin, Danyu, Burmeister, Margit, Greenwood, Tiffany A, Hamshere, Marian L, Muglia, Pierandrea, Smith, Erin N, Zandi, Peter P, Nievergelt, Caroline M, McKinney, Rebecca, Shilling, Paul D, Schork, Nicholas J, Bloss, Cinnamon S, Foroud, Tatiana, Koller, Daniel L, Gershon, Elliot S, Liu, Chunyu, Badner, Judith A, Scheftner, William A, Lawson, William B, Nwulia, Evaristus A, Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis J, Schulze, Thomas G, Berrettini, Wade, Lohoff, Falk W, Potash, James B, Mahon, Pamela B, McInnis, Melvin G, Zöllner, Sebastian, Zhang, Peng, Craig, David W, Szelinger, Szabocls, Barrett, Thomas B, Breuer, René, Meier, Sandra, Strohmaier, Jana, Witt, Stephanie H, Tozzi, Federica, Farmer, Anne, McGuffin, Peter, Strauss, John, Xu, Wei, Kennedy, James L, Vincent, John B, Matthews, Keith, Day, Richard, Ferreira, Manuel A, O'Dushlaine, Colm, Perlis, Roy, Raychaudhuri, Soumya, Ruderfer, Douglas, Lee, Phil H, Smoller, Jordan W, Li, Jun, Absher, Devin, Bunney, William E, Barchas, Jack D, Schatzberg, Alan F, Jones, Edward G, Meng, Fan, Thompson, Robert C, Watson, Stanley J, Myers, Richard M, Akil, Huda, Boehnke, Michael, Chambert, Kim, Moran, Jennifer, Scolnick, Ed, Djurovic, Srdjan, Melle, Ingrid, Morken, Gunnar, Gill, Michael, Morris, Derek, Quinn, Emma, Mühleisen, Thomas W, Degenhardt, Franziska A, Mattheisen, Manuel
Published in Nature genetics (01.10.2011)
Published in Nature genetics (01.10.2011)
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Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
Onoufriadis, Alexandros, Simpson, Michael A., Pink, Andrew E., Di Meglio, Paola, Smith, Catherine H., Pullabhatla, Venu, Knight, Jo, Spain, Sarah L., Nestle, Frank O., Burden, A. David, Capon, Francesca, Trembath, Richard C., Barker, Jonathan N.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Detectable clonal mosaicism from birth to old age and its relationship to cancer
Laurie, Cathy C, Laurie, Cecelia A, Rice, Kenneth, Doheny, Kimberly F, Zelnick, Leila R, McHugh, Caitlin P, Ling, Hua, Hetrick, Kurt N, Pugh, Elizabeth W, Amos, Chris, Wei, Qingyi, Wang, Li-e, Lee, Jeffrey E, Barnes, Kathleen C, Hansel, Nadia N, Mathias, Rasika, Daley, Denise, Beaty, Terri H, Scott, Alan F, Ruczinski, Ingo, Scharpf, Rob B, Bierut, Laura J, Hartz, Sarah M, Landi, Maria Teresa, Freedman, Neal D, Goldin, Lynn R, Ginsburg, David, Li, Jun, Desch, Karl C, Strom, Sara S, Blot, William J, Signorello, Lisa B, Ingles, Sue A, Chanock, Stephen J, Berndt, Sonja I, Le Marchand, Loic, Henderson, Brian E, Monroe, Kristine R, Heit, John A, de Andrade, Mariza, Armasu, Sebastian M, Regnier, Cynthia, Lowe, William L, Hayes, M Geoffrey, Marazita, Mary L, Feingold, Eleanor, Murray, Jeffrey C, Melbye, Mads, Feenstra, Bjarke, Kang, Jae H, Wiggs, Janey L, Jarvik, Gail P, McDavid, Andrew N, Seshan, Venkatraman E, Mirel, Daniel B, Crenshaw, Andrew, Sharopova, Nataliya, Wise, Anastasia, Shen, Jess, Crosslin, David R, Levine, David M, Zheng, Xiuwen, Udren, Jenna I, Bennett, Siiri, Nelson, Sarah C, Gogarten, Stephanie M, Conomos, Matthew P, Heagerty, Patrick, Manolio, Teri, Pasquale, Louis R, Haiman, Christopher A, Caporaso, Neil, Weir, Bruce S
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Ntzani, Evangelia E, Albagha, Omar M E, Koller, Daniel L, Minster, Ryan L, Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Zheng, Hou-Feng, Alonso, Nerea, Kammerer, Candace M, Kaptoge, Stephen K, Leo, Paul J, Wilson, James F, Alen, Markku, Aspelund, Thor, Center, Jacqueline R, Dailiana, Zoe, Duggan, David J, Garcia, Melissa, Husted, Lise Bjerre, Jameson, Karen A, Kim, Ghi Su, Kooperberg, Charles, Kruk, Marcin, Laaksonen, Marika, Leung, Ping C, Lewis, Joshua R, Nogues, Xavier, Prezelj, Janez, Scollen, Serena, Svensson, Olle, Trompet, Stella, Woo, Jean, Zhu, Kun, Cheng, Sulin, Dedoussis, George, Frost, Morten, Goltzman, David, Kähönen, Mika, Karlsson, Magnus, Langdahl, Bente Lomholt, Lips, Paul, Lorenc, Roman S, Mellström, Dan, Olmos, José M, Pettersson-Kymmer, Ulrika, Riancho, José A, Ridker, Paul M, Rousseau, François, lagboom, P Eline S, Urreizti, Roser, Zarrabeitia, María T, Castano-Betancourt, Martha, Kwan, Tony, Li, Rui, Luben, Robert, Medina-Gómez, Carolina, Th Palsson, Stefan, Rotter, Jerome I, Sigurdsson, Gunnar, van Meurs, Joyce B J, Williams, Frances M K, Zhou, Yanhua, Pastinen, Tomi, Cauley, Jane A, Chasman, Daniel I, Clark, Graeme R, Cummings, Steven R, Eastell, Richard, Eisman, John A, Hofman, Albert, Jukema, J Wouter, Khaw, Kay-Tee, Lehtimäki, Terho, Liu, Yongmei, Oostra, Ben A, Pols, Huibert A P, Reid, Ian R, Robbins, John, Sambrook, Philip N, Sham, Pak Chung, Shuldiner, Alan R, van Duijn, Cornelia M, Wareham, Nick J, Econs, Michael J, Harris, Tamara B, Kung, Annie Wai Chee, Streeten, Elizabeth A, Thorsteinsdottir, Unnur, Karasik, David, Richards, J Brent, Brown, Matthew A, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P
Published in Nature genetics (01.05.2012)
Published in Nature genetics (01.05.2012)
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Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians
Kato, Norihiro, Takeuchi, Fumihiko, Tabara, Yasuharu, Kelly, Tanika N, Go, Min Jin, Sim, Xueling, Tay, Wan Ting, Chen, Chien-Hsiun, Zhang, Yi, Yamamoto, Ken, Katsuya, Tomohiro, Yokota, Mitsuhiro, Kim, Young Jin, Ong, Rick Twee Hee, Nabika, Toru, Gu, Dongfeng, Chang, Li-ching, Kokubo, Yoshihiro, Huang, Wei, Ohnaka, Keizo, Yamori, Yukio, Nakashima, Eitaro, Jaquish, Cashell E, Lee, Jong-Young, Seielstad, Mark, Isono, Masato, Hixson, James E, Chen, Yuan-Tsong, Miki, Tetsuro, Zhou, Xueya, Sugiyama, Takao, Jeon, Jae-Pil, Liu, Jian Jun, Takayanagi, Ryoichi, Kim, Sung Soo, Aung, Tin, Sung, Yun Ju, Zhang, Xuegong, Wong, Tien Yin, Han, Bok-Ghee, Kobayashi, Shotai, Ogihara, Toshio, Zhu, Dingliang, Iwai, Naoharu, Wu, Jer-Yuarn, Teo, Yik Ying, Tai, E Shyong, Cho, Yoon Shin, He, Jiang
Published in Nature genetics (01.06.2011)
Published in Nature genetics (01.06.2011)
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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K
Published in Nature genetics (01.10.2010)
Published in Nature genetics (01.10.2010)
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Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Jackson, Anne U, Winkler, Thomas W, Steinthorsdottir, Valgerdur, Speliotes, Elizabeth K, Mägi, Reedik, Ingelsson, Erik, Kilpeläinen, Tuomas O, Holmes, Christopher C, Min, Josine L, Ferreira, Teresa, Wood, Andrew R, Estrada, Karol, Lettre, Guillaume, Smith, Albert Vernon, McCarroll, Steven A, Voight, Benjamin F, Absher, Devin, Glazer, Nicole L, Johansson, Åsa, Johnson, Toby, Kaakinen, Marika, Kraja, Aldi T, Morris, Andrew P, Ong, Ken K, Sanna, Serena, Sovio, Ulla, Surakka, Ida, Teumer, Alexander, van Wingerden, Sophie, Chines, Peter S, Sandholt, Camilla, Scott, Laura J, Silander, Kaisa, Stark, Klaus, Teslovich, Tanya M, Timpson, Nicholas John, Pellikka, Niina, Alavere, Helene, Atwood, Larry D, Erdos, Michael R, Fu, Mao, Geus, Eco J C, Gjesing, Anette P, Groves, Christopher J, Guiducci, Candace, Hassanali, Neelam, Havulinna, Aki S, Hicks, Andrew A, Kolcic, Ivana, Kovacs, Peter, Kroemer, Heyo K, Kvaloy, Kirsti, Luben, Robert N, Ludwig, Barbara, McArdle, Wendy L, Morken, Mario A, Neville, Matt J, Parker, Alex N, Peden, John F, Pichler, Irene, Strawbridge, Rona J, Swift, Amy J, Usala, Gianluca, van Meurs, Joyce B J, van Ommen, Gert-Jan, Willemsen, Gonneke, Kähönen, Mika, Lehtimäki, Terho, Ohlsson, Claes, Stumvoll, Michael, Tönjes, Anke, Smith, George Davey, Froguel, Philippe, Hveem, Kristian, Isomaa, Bo, Marre, Michel, Meitinger, Thomas, Midthjell, Kristian, Salomaa, Veikko, Bergmann, Sven, Boomsma, Dorret I, Hu, Frank B, Illig, Thomas, Kao, W H Linda, Munroe, Patricia B, Quertermous, Thomas, Shuldiner, Alan R, Syvanen, Ann-Christine, Uitterlinden, André, Witteman, Jacqueline C, Wright, Alan F, Boehnke, Michael, Deloukas, Panos, Frayling, Timothy M, Groop, Leif C, Haritunians, Talin, Hunter, David J, Kaplan, Robert C, van Duijn, Cornelia M, Cupples, L Adrienne
Published in Nature genetics (01.11.2010)
Published in Nature genetics (01.11.2010)
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Parallel bacterial evolution within multiple patients identifies candidate pathogenicity genes
Lieberman, Tami D, Michel, Jean-Baptiste, Aingaran, Mythili, Potter-Bynoe, Gail, Roux, Damien, Davis, Michael R, Skurnik, David, Leiby, Nicholas, LiPuma, John J, Goldberg, Joanna B, McAdam, Alexander J, Priebe, Gregory P, Kishony, Roy
Published in Nature genetics (01.12.2011)
Published in Nature genetics (01.12.2011)
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PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome
Agarwal, Anil K., Xing, Chao, DeMartino, George N., Mizrachi, Dario, Hernandez, Maria Dolores, Sousa, Ana Berta, Martínez de Villarreal, Laura, dos Santos, Heloísa G., Garg, Abhimanyu
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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Impaired mitochondrial dynamics and abnormal interaction of amyloid beta with mitochondrial protein Drp1 in neurons from patients with Alzheimer's disease: implications for neuronal damage
Manczak, Maria, Calkins, Marcus J., Reddy, P. Hemachandra
Published in Human molecular genetics (01.07.2011)
Published in Human molecular genetics (01.07.2011)
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Meta-analysis identifies six new susceptibility loci for atrial fibrillation
Ellinor, Patrick T, Lunetta, Kathryn L, Albert, Christine M, Glazer, Nicole L, Ritchie, Marylyn D, Smith, Albert V, Arking, Dan E, Müller-Nurasyid, Martina, Krijthe, Bouwe P, Lubitz, Steven A, Bis, Joshua C, Chung, Mina K, Dörr, Marcus, Ozaki, Kouichi, Roberts, Jason D, Smith, J Gustav, Pfeufer, Arne, Sinner, Moritz F, Lohman, Kurt, Ding, Jingzhong, Smith, Nicholas L, Smith, Jonathan D, Rienstra, Michiel, Rice, Kenneth M, Van Wagoner, David R, Magnani, Jared W, Wakili, Reza, Clauss, Sebastian, Rotter, Jerome I, Steinbeck, Gerhard, Launer, Lenore J, Davies, Robert W, Borkovich, Matthew, Harris, Tamara B, Lin, Honghuang, Völker, Uwe, Völzke, Henry, Milan, David J, Hofman, Albert, Boerwinkle, Eric, Chen, Lin Y, Soliman, Elsayed Z, Voight, Benjamin F, Li, Guo, Chakravarti, Aravinda, Kubo, Michiaki, Tedrow, Usha B, Rose, Lynda M, Ridker, Paul M, Conen, David, Tsunoda, Tatsuhiko, Furukawa, Tetsushi, Sotoodehnia, Nona, Xu, Siyan, Kamatani, Naoyuki, Levy, Daniel, Nakamura, Yusuke, Parvez, Babar, Mahida, Saagar, Furie, Karen L, Rosand, Jonathan, Muhammad, Raafia, Psaty, Bruce M, Meitinger, Thomas, Perz, Siegfried, Wichmann, H-Erich, Witteman, Jacqueline C M, Kao, W H Linda, Kathiresan, Sekar, Roden, Dan M, Uitterlinden, Andre G, Rivadeneira, Fernando, McKnight, Barbara, Sjögren, Marketa, Newman, Anne B, Liu, Yongmei, Gollob, Michael H, Melander, Olle, Tanaka, Toshihiro, Stricker, Bruno H Ch, Felix, Stephan B, Alonso, Alvaro, Darbar, Dawood, Barnard, John, Chasman, Daniel I, Heckbert, Susan R, Benjamin, Emelia J, Gudnason, Vilmundur, Kääb, Stefan
Published in Nature genetics (01.06.2012)
Published in Nature genetics (01.06.2012)
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Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population
Hirota, Tomomitsu, Takahashi, Atsushi, Kubo, Michiaki, Tsunoda, Tatsuhiko, Tomita, Kaori, Sakashita, Masafumi, Yamada, Takechiyo, Fujieda, Shigeharu, Tanaka, Shota, Doi, Satoru, Miyatake, Akihiko, Enomoto, Tadao, Nishiyama, Chiharu, Nakano, Nobuhiro, Maeda, Keiko, Okumura, Ko, Ogawa, Hideoki, Ikeda, Shigaku, Noguchi, Emiko, Sakamoto, Tohru, Hizawa, Nobuyuki, Ebe, Koji, Saeki, Hidehisa, Sasaki, Takashi, Ebihara, Tamotsu, Amagai, Masayuki, Takeuchi, Satoshi, Furue, Masutaka, Nakamura, Yusuke, Tamari, Mayumi
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Cigarette smoking behaviors and time since quitting are associated with differential DNA methylation across the human genome
Wan, Emily S., Qiu, Weiliang, Baccarelli, Andrea, Carey, Vincent J., Bacherman, Helene, Rennard, Stephen I., Agusti, Alvar, Anderson, Wayne, Lomas, David A., DeMeo, Dawn L.
Published in Human molecular genetics (01.07.2012)
Published in Human molecular genetics (01.07.2012)
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Insect Herbivores Drive Real-Time Ecological and Evolutionary Change in Plant Populations
Agrawal, Anurag A., Hastings, Amy P., Johnson, Marc T. J., Maron, John L., Salminen, Juha-Pekka
Published in Science (American Association for the Advancement of Science) (05.10.2012)
Published in Science (American Association for the Advancement of Science) (05.10.2012)
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Mutations in BRIP1 confer high risk of ovarian cancer
Rafnar, Thorunn, Gudbjartsson, Daniel F, Sulem, Patrick, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Jonasdottir, Adalbjorg, Besenbacher, Soren, Lundin, Pär, Stacey, Simon N, Gudmundsson, Julius, Magnusson, Olafur T, le Roux, Louise, Orlygsdottir, Gudbjorg, Helgadottir, Hafdis T, Johannsdottir, Hrefna, Gylfason, Arnaldur, Tryggvadottir, Laufey, Jonasson, Jon G, de Juan, Ana, Ortega, Eugenia, Ramon-Cajal, Jose M, García-Prats, Maria D, Mayordomo, Carlos, Panadero, Angeles, Rivera, Fernando, Aben, Katja K H, van Altena, Anne M, Massuger, Leon F A G, Aavikko, Mervi, Kujala, Paula M, Staff, Synnöve, Aaltonen, Lauri A, Olafsdottir, Kristrun, Bjornsson, Johannes, Kong, Augustine, Salvarsdottir, Anna, Saemundsson, Hafsteinn, Olafsson, Karl, Benediktsdottir, Kristrun R, Gulcher, Jeffrey, Masson, Gisli, Kiemeney, Lambertus A, Mayordomo, Jose I, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature genetics (01.11.2011)
Published in Nature genetics (01.11.2011)
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