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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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Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant Wnt activationMorris, Luc G T ; Kaufman, Andrew M ; Gong, Yongxing ; Ramaswami, Deepa ; Walsh, Logan A ; Turcan, Şevin ; Eng, Stephanie ; Kannan, Kasthuri ; Zou, Yilong ; Peng, Luke ; Banuchi, Victoria E ; Paty, Phillip ; Zeng, Zhaoshi ; Vakiani, Efsevia ; Solit, David ; Singh, Bhuvanesh ; Ganly, Ian ; Liau, Linda ; Cloughesy, Timothy C ; Mischel, Paul S ; Mellinghoff, Ingo K ; Chan, Timothy ANature genetics, 2013-03, Vol.45 (3), p.253-261 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Tumor mutational load predicts survival after immunotherapy across multiple cancer typesSamstein, Robert M ; Lee, Chung-Han ; Shoushtari, Alexander N ; Hellmann, Matthew D ; Shen, Ronglai ; Janjigian, Yelena Y ; Barron, David A ; Zehir, Ahmet ; Jordan, Emmet J ; Omuro, Antonio ; Kaley, Thomas J ; Kendall, Sviatoslav M ; Motzer, Robert J ; Hakimi, A Ari ; Voss, Martin H ; Russo, Paul ; Rosenberg, Jonathan ; Iyer, Gopa ; Bochner, Bernard H ; Bajorin, Dean F ; Al-Ahmadie, Hikmat A ; Chaft, Jamie E ; Rudin, Charles M ; Riely, Gregory J ; Baxi, Shrujal ; Ho, Alan L ; Wong, Richard J ; Pfister, David G ; Wolchok, Jedd D ; Barker, Christopher A ; Gutin, Philip H ; Brennan, Cameron W ; Tabar, Viviane ; Mellinghoff, Ingo K ; DeAngelis, Lisa M ; Ariyan, Charlotte E ; Lee, Nancy ; Tap, William D ; Gounder, Mrinal M ; D'Angelo, Sandra P ; Saltz, Leonard ; Stadler, Zsofia K ; Scher, Howard I ; Baselga, Jose ; Razavi, Pedram ; Klebanoff, Christopher A ; Yaeger, Rona ; Segal, Neil H ; Ku, Geoffrey Y ; DeMatteo, Ronald P ; Ladanyi, Marc ; Rizvi, Naiyer A ; Berger, Michael F ; Riaz, Nadeem ; Solit, David B ; Chan, Timothy A ; Morris, Luc G TNature genetics, 2019-02, Vol.51 (2), p.202-206 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A reference panel of 64,976 haplotypes for genotype imputationDas, Sayantan ; Delaneau, Olivier ; Wood, Andrew R ; Teumer, Alexander ; Kang, Hyun Min ; Danecek, Petr ; Luo, Yang ; Sidore, Carlo ; Kwong, Alan ; Timpson, Nicholas ; Koskinen, Seppo ; Vrieze, Scott ; Scott, Laura J ; Zhang, He ; Mahajan, Anubha ; Veldink, Jan ; Peters, Ulrike ; Pato, Carlos ; van Duijn, Cornelia M ; Gillies, Christopher E ; Gandin, Ilaria ; Mezzavilla, Massimo ; Gilly, Arthur ; Cocca, Massimiliano ; Traglia, Michela ; Angius, Andrea ; Barrett, Jeffrey C ; Boomsma, Dorrett ; Branham, Kari ; Breen, Gerome ; Brummett, Chad M ; Busonero, Fabio ; Campbell, Harry ; Chen, Sai ; Chew, Emily ; Collins, Francis S ; Corbin, Laura J ; Smith, George Davey ; Dedoussis, George ; Dorr, Marcus ; Farmaki, Aliki-Eleni ; Ferrucci, Luigi ; Forer, Lukas ; Fraser, Ross M ; Gabriel, Stacey ; Levy, Shawn ; Groop, Leif ; Harrison, Tabitha ; Hattersley, Andrew ; Holmen, Oddgeir L ; Hveem, Kristian ; Kretzler, Matthias ; Lee, James C ; McGue, Matt ; Meitinger, Thomas ; Vincent, John B ; Nauck, Matthias ; Nickerson, Deborah ; Palotie, Aarno ; Pato, Michele ; Pirastu, Nicola ; McInnis, Melvin ; Richards, J Brent ; Sala, Cinzia ; Salomaa, Veikko ; Schlessinger, David ; Schoenherr, Sebastian ; Slagboom, P Eline ; Small, Kerrin ; Spector, Timothy ; Tuke, Marcus ; Tuomilehto, Jaakko ; Van den Berg, Leonard H ; Van Rheenen, Wouter ; Volker, Uwe ; Wijmenga, Cisca ; Toniolo, Daniela ; Zeggini, Eleftheria ; Gasparini, Paolo ; Sampson, Matthew G ; Wilson, James F ; Frayling, Timothy ; de Bakker, Paul I W ; Swertz, Morris A ; McCarroll, Steven ; Kooperberg, Charles ; Dekker, Annelot ; Altshuler, David ; Willer, Cristen ; Iacono, William ; Ripatti, Samuli ; Soranzo, Nicole ; Walter, Klaudia ; Swaroop, Anand ; Cucca, Francesco ; Anderson, Carl A ; Myers, Richard M ; Boehnke, Michael ; McCarthy, Mark I ; Durbin, RichardNature genetics, 2016-10, Vol.48 (10), p.1279-1283 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populationsLiu, Jimmy Z ; van Sommeren, Suzanne ; Huang, Hailiang ; Ng, Siew C ; Alberts, Rudi ; Takahashi, Atsushi ; Ripke, Stephan ; Lee, James C ; Jostins, Luke ; Shah, Tejas ; Abedian, Shifteh ; Cheon, Jae Hee ; Cho, Judy ; Dayani, Naser E ; Franke, Lude ; Fuyuno, Yuta ; Hart, Ailsa ; Juyal, Ramesh C ; Juyal, Garima ; Kim, Won Ho ; Morris, Andrew P ; Poustchi, Hossein ; Newman, William G ; Midha, Vandana ; Orchard, Timothy R ; Vahedi, Homayon ; Sood, Ajit ; Sung, Joseph Y ; Malekzadeh, Reza ; Westra, Harm-Jan ; Yamazaki, Keiko ; Yang, Suk-Kyun ; Barrett, Jeffrey C ; Alizadeh, Behrooz Z ; Parkes, Miles ; Bk, Thelma ; Daly, Mark J ; Kubo, Michiaki ; Anderson, Carl A ; Weersma, Rinse KNature genetics, 2015-09, Vol.47 (9), p.979-986 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Whole-genome sequence variation, population structure and demographic history of the Dutch populationFrancioli, Laurent C ; Menelaou, Androniki ; Pulit, Sara L ; van Dijk, Feerk ; Palamara, Pier Francesco ; Elbers, Clara C ; Neerincx, Pieter B T ; Ye, Kai ; Guryev, Victor ; Kloosterman, Wigard P ; Deelen, Patrick ; Abdellaoui, Abdel ; van Leeuwen, Elisabeth M ; van Oven, Mannis ; Vermaat, Martijn ; Li, Mingkun ; Laros, Jeroen F J ; Karssen, Lennart C ; Kanterakis, Alexandros ; Amin, Najaf ; Hottenga, Jouke Jan ; Lameijer, Eric-Wubbo ; Kattenberg, Mathijs ; Dijkstra, Martijn ; Byelas, Heorhiy ; van Setten, Jessica ; van Schaik, Barbera D C ; Bot, Jan ; Nijman, Isaäc J ; Renkens, Ivo ; Marschall, Tobias ; Schönhuth, Alexander ; Hehir-Kwa, Jayne Y ; Handsaker, Robert E ; Polak, Paz ; Sohail, Mashaal ; Vuzman, Dana ; Hormozdiari, Fereydoun ; van Enckevort, David ; Mei, Hailiang ; Koval, Vyacheslav ; Moed, Matthijs H ; van der Velde, K Joeri ; Rivadeneira, Fernando ; Estrada, Karol ; Medina-Gomez, Carolina ; Isaacs, Aaron ; McCarroll, Steven A ; Beekman, Marian ; de Craen, Anton J M ; Suchiman, H Eka D ; Hofman, Albert ; Oostra, Ben ; Uitterlinden, André G ; Willemsen, Gonneke ; Platteel, Mathieu ; Veldink, Jan H ; van den Berg, Leonard H ; Pitts, Steven J ; Potluri, Shobha ; Sundar, Purnima ; Cox, David R ; Sunyaev, Shamil R ; den Dunnen, Johan T ; Stoneking, Mark ; de Knijff, Peter ; Kayser, Manfred ; Li, Qibin ; Li, Yingrui ; Du, Yuanping ; Chen, Ruoyan ; Cao, Hongzhi ; Li, Ning ; Cao, Sujie ; Wang, Jun ; Bovenberg, Jasper A ; Pe'er, Itsik ; Slagboom, P Eline ; van Duijn, Cornelia M ; Boomsma, Dorret I ; van Ommen, Gert-Jan B ; de Bakker, Paul I W ; Swertz, Morris A ; Wijmenga, CiscaNature genetics, 2014-08, Vol.46 (8), p.818-825 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and goutWright, Alan F ; Vitart, Veronique ; Rudan, Igor ; Hayward, Caroline ; Gray, Nicola K ; Floyd, James ; Palmer, Colin NA ; Knott, Sara A ; Kolcic, Ivana ; Polasek, Ozren ; Graessler, Juergen ; Wilson, James F ; Marinaki, Anthony ; Riches, Philip L ; Shu, Xinhua ; Janicijevic, Branka ; Smolej-Narancic, Nina ; Gorgoni, Barbara ; Morgan, Joanne ; Campbell, Susan ; Biloglav, Zrinka ; Barac-Lauc, Lovorka ; Pericic, Marijana ; Klaric, Irena Martinovic ; Zgaga, Lina ; Skaric-Juric, Tatjana ; Wild, Sarah H ; Richardson, William A ; Hohenstein, Peter ; Kimber, Charley H ; Tenesa, Albert ; Donnelly, Louise A ; Fairbanks, Lynette D ; Aringer, Martin ; McKeigue, Paul M ; Ralston, Stuart H ; Morris, Andrew D ; Rudan, Pavao ; Hastie, Nicholas D ; Campbell, HarryNature genetics, 2008-04, Vol.40 (4), p.437-442 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome-wide association study identifies five loci associated with lung functionKähönen, Mika ; Albrecht, Eva ; Obeidat, Ma'en ; Mustelin, Linda ; Froguel, Philippe ; Burton, Paul R ; Johansson, Åsa ; Jankovic, Stipan ; Grallert, Harald ; Imboden, Medea ; Hartikainen, Anna-Liisa ; Delplanque, Jérôme ; Porteous, David J ; Olin, Anna-Carin ; Schnabel, Eva ; Holloway, John W ; Ebrahim, Shah ; Zgaga, Lina ; MacLeod, Andrew K ; Sayers, Ian ; Rudan, Igor ; Tobin, Martin D ; Ripatti, Samuli ; Wain, Louise V ; McArdle, Wendy L ; Evans, David M ; Cooper, Matthew N ; Smith, George Davey ; Spector, Tim D ; Völzke, Henry ; Deloukas, Panos ; Jarvelin, Marjo-Riitta ; Blakey, John D ; Strachan, David P ; Cooper, Cyrus ; Schulz, Holger ; Campbell, Harry ; Huffman, Jennifer E ; Hall, Ian P ; Rudnicka, Alicja R ; James, Alan L ; Rantanen, Taina ; Lawlor, Debbie A ; Morris, Andrew D ; Nyberg, Fredrik ; Ramasamy, Adaikalavan ; Wright, Alan F ; Karrasch, Stefan ; Palmer, Lyle J ; Wild, Sarah H ; Repapi, Emmanouela ; Hui, Jennie ; Morris, Richard W ; Elliott, Paul ; Polašek, Ozren ; Shaheen, Seif ; Britton, John R ; Igl, Wilmar ; Heliövaara, Markku ; Johnson, Toby ; Bouatia-Naji, Nabila ; Homuth, Georg ; Dennison, Elaine ; McKeever, Tricia M ; Granell, Raquel ; Pouta, Anneli ; Gyllensten, Ulf ; Zaboli, Ghazal ; Soranzo, Nicole ; Hingorani, Aroon D ; Vitart, Veronique ; Koch, Beate ; Zhao, Jing Hua ; Barroso, Inês ; Wilson, James F ; Kaprio, Jaakko ; Jackson, Cathy ; Wareham, Nicholas J ; Loos, Ruth J F ; Grkovic, Ivica ; Peltonen, Leena ; Torén, Kjell ; Probst-Hensch, Nicole M ; Wannamethee, S Goya ; Pavord, Ian D ; Gläser, Sven ; Naluai, Åsa Torinsson ; Henderson, John ; Wichmann, H Erich ; Surakka, Ida ; Mangino, Massimo ; Whincup, Peter H ; Zhai, Guangju ; Hayward, CarolineNature genetics, 2010-01, Vol.42 (1), p.36-44 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Timing, rates and spectra of human germline mutationRahbari, Raheleh ; Wuster, Arthur ; Lindsay, Sarah J ; Hardwick, Robert J ; Alexandrov, Ludmil B ; Turki, Saeed Al ; Dominiczak, Anna ; Morris, Andrew ; Porteous, David ; Smith, Blair ; Stratton, Michael R ; Hurles, Matthew ENature genetics, 2016-02, Vol.48 (2), p.126-133 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genome-wide patterns and properties of de novo mutations in humansFrancioli, Laurent C ; Polak, Paz P ; Koren, Amnon ; Menelaou, Androniki ; Chun, Sung ; Renkens, Ivo ; van Duijn, Cornelia M ; Swertz, Morris ; Wijmenga, Cisca ; van Ommen, Gertjan ; Slagboom, P Eline ; Boomsma, Dorret I ; Ye, Kai ; Guryev, Victor ; Arndt, Peter F ; Kloosterman, Wigard P ; de Bakker, Paul I W ; Sunyaev, Shamil RNature genetics, 2015-07, Vol.47 (7), p.822-826 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |