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Material Type: Artigo
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Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillationIngrid E. Christophersen Michiel Rienstra; Carolina Roselli; Xiaoyan Yin; Bastiaan Geelhoed; John Barnard; Honghuang Lin; Dan E Arking; Albert V Smith; Christine M Albert; Mark Chaffin; Nathan R Tucker; Molong Li; Derek Klarin; Nathan A Bihlmeyer; Siew-Kee Low; Peter E Weeke; Martina Müller Nurasyid; J. Gustav Smith; Jennifer A Brody; Maartje N Niemeijer; Marcus Dörr; Stella Trompet; Jennifer Huffman; Stefan Gustafsson; Claudia Schurmann; Marcus E Kleber; Leo-Pekka Lyytikäinen; Ilkka Seppälä; Rainer Malik; Andrea R. V Horimoto; Marco Perez; Juha Sinisalo; Stefanie Aeschbacher; Sébastien Theriault; Jie Yao; Farid Radmanesh; Alexander Teumer; Seung Hoan Choi; Lu-Chen Weng; Sebastian Clauss; Rajat Deo; Daniel J Rader; Svati H Shah; Albert Sun; Jemma C Hopewell; Stephanie Debette; Ganesh Chauhan; Qiong Yang; Bradford B Worral; Guillaume Paré; Yoichiro Kamatani; Yanick P Hagemeijer; Niek Verweij; Joylene E Siland; Michiaki Kubo; Jonathan D Smith; David R. Van Wagoner; Joshua C Bis; Siegfried Perz; Bruce M Psaty; Paul M Ridker; Jared W Magnani; Tamara B Harris; Lenore J Launer; M. Benjamin Shoemaker; Sandosh Padmanabhan; Jeffrey Haessler; Traci M Bartz; Melanie Waldenberger; Peter Lichtner; José Eduardo Krieger; Mika Kähönen; Lorenz Risch; Alfredo José Mansur; Annette Peters; Blair H Smith; Lars Lind; Stuart A Scott; Yingchang Lu; Erwin B Bottinger; Jussi Hernesniemi; Cecilia M Lindgren; Jorge A Wong; Jie Huang; Markku Eskola; Andrew P Morris; Ian Ford; Alex P Reiner; Graciela Delgado; Lin Y Yen; Yii-Der Ida Chen; Roopinder Sandhu; Man Li; Eric Boerwinkle; Lewin Eisele; Lars Lannfelt; Natalia Rost; Christopher D Anderson; Kent D Taylor; Archie Campbell; Patrick K Magnusson; David Porteous; Lynne J Hoking; Efthymia Vlachopoulou; Nancy L Pedersen; Kjell Nikus; Marju Orho Melander; Anders Hamsten; Jan Heeringa; Joshua C Denny; Jennifer Kriebel; Dawood Darbar; Christopher Newton Cheh Shaffer,Christian; Peter W Macfarlane; Stefanie Heilmann Heimbach; Peter Almgren; Paul L Huang; Nona Sotoodehnia; Elsayed Z Soliman; Andre G Uitterlinden; Albert Hofman; Oscar H Franco; Uwe Völker; Karl-Heinz Jöckel Sinner,Moritz F; Henry J Lin; Xiuqing Guo; Martin Dichgans; Erik Ingelsson; Charles Kooperberg; Olle Melander; Ruth J. F Loos; Jari Laurikka; David Conen; Jonathan Rosand; Pim van der Harst; Marja-Liisa Lokki; Sekar Kathiresan; Alexandre Pereira; J. Wouter Jukema; Caroline Hayward; Jerome I Rotter; Winfried März; Terho Lehtimäki; Bruno H Stricker; Mina K Chung; Stephan B Felix; Vilmundur Gudnason; Alvaro Alonso; Dan M Roden; Stefan Kääb; Daniel I Chasman; Susan R Heckbert; Emelia J Benjamin; Toshihiro Tanaka; Kathryn L Lunetta; Steven A Lubitz; Patrick T EllinorNature Genetics New York v. 49, n. 6, p. 946-952, 2017New York 2017Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVsLiu, Xiaoming ; Wu, Chunlei ; Li, Chang ; Boerwinkle, EricHuman mutation, 2016-03, Vol.37 (3), p.235-241 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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3 |
Material Type: Artigo
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In silico prediction of splice-altering single nucleotide variants in the human genomeJian, Xueqiu ; Boerwinkle, Eric ; Liu, XiaomingNucleic acids research, 2014-12, Vol.42 (22), p.13534-13544 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing StudiesLiu, Yaowu ; Chen, Sixing ; Li, Zilin ; Morrison, Alanna C ; Boerwinkle, Eric ; Lin, XihongAmerican journal of human genetics, 2019-03, Vol.104 (3), p.410-421 [Periódico revisado por pares]United States: ElsevierTexto completo disponível |
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Material Type: Artigo
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The ARIC (Atherosclerosis Risk In Communities) Study: JACC Focus Seminar 3/8Wright, Jacqueline D ; Folsom, Aaron R ; Coresh, Josef ; Sharrett, A Richey ; Couper, David ; Wagenknecht, Lynne E ; Mosley, Jr, Thomas H ; Ballantyne, Christie M ; Boerwinkle, Eric A ; Rosamond, Wayne D ; Heiss, GerardoJournal of the American College of Cardiology, 2021-06, Vol.77 (23), p.2939-2959 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disordersNgo, Kathie J. ; Rexach, Jessica E. ; Lee, Hane ; Petty, Lauren E. ; Perlman, Susan ; Valera, Juliana M. ; Deignan, Joshua L. ; Mao, Yuanming ; Aker, Mamdouh ; Posey, Jennifer E. ; Jhangiani, Shalini N. ; Coban‐Akdemir, Zeynep H. ; Boerwinkle, Eric ; Muzny, Donna ; Nelson, Alexandra B. ; Hassin‐Baer, Sharon ; Poke, Gemma ; Neas, Katherine ; Geschwind, Michael D. ; Grody, Wayne W. ; Gibbs, Richard ; Geschwind, Daniel H. ; Lupski, James R. ; Below, Jennifer E. ; Nelson, Stanley F. ; Fogel, Brent L.Human mutation, 2020-02, Vol.41 (2), p.487-501 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver diseaseCohen, Jonathan C ; Hobbs, Helen H ; Romeo, Stefano ; Kozlitina, Julia ; Xing, Chao ; Pertsemlidis, Alexander ; Cox, David ; Pennacchio, Len A ; Boerwinkle, EricNature genetics, 2008-12, Vol.40 (12), p.1461-1465 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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In silico tools for splicing defect prediction: a survey from the viewpoint of end usersJian, Xueqiu ; Boerwinkle, Eric ; Liu, XiaomingGenetics in medicine, 2014-07, Vol.16 (7), p.497-503 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Material Type: Artigo
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Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humansRomeo, Stefano ; Yin, Wu ; Kozlitina, Julia ; Pennacchio, Len A ; Boerwinkle, Eric ; Hobbs, Helen H ; Cohen, Jonathan CThe Journal of clinical investigation, 2009-01, Vol.119 (1), p.70-79 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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Material Type: Artigo
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Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary DiseaseKhera, Amit V ; Emdin, Connor A ; Drake, Isabel ; Natarajan, Pradeep ; Bick, Alexander G ; Cook, Nancy R ; Chasman, Daniel I ; Baber, Usman ; Mehran, Roxana ; Rader, Daniel J ; Fuster, Valentin ; Boerwinkle, Eric ; Melander, Olle ; Orho-Melander, Marju ; Ridker, Paul M ; Kathiresan, SekarThe New England journal of medicine, 2016-12, Vol.375 (24), p.2349-2358 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |