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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Uddin, Mohammed ; Tammimies, Kristiina ; Pellecchia, Giovanna ; Alipanahi, Babak ; Hu, Pingzhao ; Wang, Zhuozhi ; Pinto, Dalila ; Lau, Lynette ; Nalpathamkalam, Thomas ; Marshall, Christian R ; Blencowe, Benjamin J ; Frey, Brendan J ; Merico, Daniele ; Yuen, Ryan K C ; Scherer, Stephen W

Nature genetics, 2014-07, Vol.46 (7), p.742-747 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Mutations in SUFU predispose to medulloblastoma
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Mutations in SUFU predispose to medulloblastoma

Rutka, James T ; Hogg, David ; Taylor, Michael D ; Liu, Ling ; Raffel, Corey ; Hui, Chi-chung ; Mainprize, Todd G ; Zhang, Xiaoyun ; Agatep, Ron ; Chiappa, Sharon ; Gao, Luzhang ; Lowrance, Anja ; Hao, Aihau ; Goldstein, Alisa M ; Stavrou, Theodora ; Scherer, Stephen W ; Dura, Wieslaw T ; Wainwright, Brandon ; Squire, Jeremy A

Nature genetics, 2002-07, Vol.31 (3), p.306-310 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Fusion of two novel genes, RBM15 and MKL1 , in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia
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Fusion of two novel genes, RBM15 and MKL1 , in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia

Morris, Stephan W ; Hitzler, Johann K ; Ma, Zhigui ; Valentine, Virginia ; L, Martin ; Herbrick, Jo-Anne ; Cui, Xiaoli ; Bouman, Derek ; Li, Yue ; Mehta, Perdeep K ; Nizetic, Dean ; Kaneko, Yasuhiko ; Chan, Godfrey C.F ; Chan, Li C ; Squire, Jeremy ; Scherer, Stephen W

Nature genetics, 2001-07, Vol.28 (3), p.220-221 [Periódico revisado por pares]

London: Nature Publishing Group

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4
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas
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Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas

Schmidt, Laura ; Duh, Fuh-Mei ; Chen, Fan ; Kishida, Takeshi ; Glenn, Gladys ; Choyke, Peter ; Scherer, Stephen W ; Zhuang, Zhenping ; Lubensky, Irina ; Dean, Michael ; Allikmets, Rando ; Chidambaram, Abi ; Bergerheim, Ulf R ; Feltis, J. Timothy ; Casadevall, Carme ; Zamarron, Agustin ; Bernues, Marta ; Richard, Stephane ; Lips, C.J.M ; Walther, McClellan M ; Tsui, Lap-Chee ; Geil, Laura ; Orcutt, Mary Lou ; Stackhouse, Thomas ; Lipan, Jami ; Slife, Leah ; Brauch, Hiltrud ; Decker, Jochen ; Niehans, Gloria ; Hughson, Michael D ; Moch, Holger ; Storkel, Stephan ; Lerman, Michael I ; Linehan, W. Marston ; Zbar, Berton

Nature genetics, 1997-05, Vol.16 (1), p.68-73 [Periódico revisado por pares]

London: Nature Publishing Group

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