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A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci
A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci
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A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci

Pillai, Sreekumar G ; Ge, Dongliang ; Zhu, Guohua ; Kong, Xiangyang ; Shianna, Kevin V ; Need, Anna C ; Feng, Sheng ; Hersh, Craig P ; Bakke, Per ; Gulsvik, Amund ; Ruppert, Andreas ; Lødrup Carlsen, Karin C ; Roses, Allen ; Anderson, Wayne ; Rennard, Stephen I ; Lomas, David A ; Silverman, Edwin K ; Goldstein, David B McCarthy, Mark I.

PLoS genetics, 2009-03, Vol.5 (3), p.e1000421-e1000421 [Periódico revisado por pares]

United States: Public Library of Science

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2
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project
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Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project

Lettre, Guillaume ; Palmer, Cameron D ; Young, Taylor ; Ejebe, Kenechi G ; Allayee, Hooman ; Benjamin, Emelia J ; Bennett, Franklyn ; Bowden, Donald W ; Chakravarti, Aravinda ; Dreisbach, Al ; Farlow, Deborah N ; Folsom, Aaron R ; Fornage, Myriam ; Forrester, Terrence ; Fox, Ervin ; Haiman, Christopher A ; Hartiala, Jaana ; Harris, Tamara B ; Hazen, Stanley L ; Heckbert, Susan R ; Henderson, Brian E ; Hirschhorn, Joel N ; Keating, Brendan J ; Kritchevsky, Stephen B ; Larkin, Emma ; Li, Mingyao ; Rudock, Megan E ; McKenzie, Colin A ; Meigs, James B ; Meng, Yang A ; Mosley, Tom H ; Newman, Anne B ; Newton-Cheh, Christopher H ; Paltoo, Dina N ; Papanicolaou, George J ; Patterson, Nick ; Post, Wendy S ; Psaty, Bruce M ; Qasim, Atif N ; Qu, Liming ; Rader, Daniel J ; Redline, Susan ; Reilly, Muredach P ; Reiner, Alexander P ; Rich, Stephen S ; Rotter, Jerome I ; Liu, Yongmei ; Shrader, Peter ; Siscovick, David S ; Tang, W H Wilson ; Taylor, Herman A ; Tracy, Russell P ; Vasan, Ramachandran S ; Waters, Kevin M ; Wilks, Rainford ; Wilson, James G ; Fabsitz, Richard R ; Gabriel, Stacey B ; Kathiresan, Sekar ; Boerwinkle, Eric McCarthy, Mark I.

PLoS genetics, 2011-02, Vol.7 (2), p.e1001300 [Periódico revisado por pares]

United States: Public Library of Science

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3
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1
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Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1

Winkelmann, Juliane ; Czamara, Darina ; Schormair, Barbara ; Knauf, Franziska ; Schulte, Eva C ; Trenkwalder, Claudia ; Dauvilliers, Yves ; Polo, Olli ; Högl, Birgit ; Berger, Klaus ; Fuhs, Andrea ; Gross, Nadine ; Stiasny-Kolster, Karin ; Oertel, Wolfgang ; Bachmann, Cornelius G ; Paulus, Walter ; Xiong, Lan ; Montplaisir, Jacques ; Rouleau, Guy A ; Fietze, Ingo ; Vávrová, Jana ; Kemlink, David ; Sonka, Karel ; Nevsimalova, Sona ; Lin, Siong-Chi ; Wszolek, Zbigniew ; Vilariño-Güell, Carles ; Farrer, Matthew J ; Gschliesser, Viola ; Frauscher, Birgit ; Falkenstetter, Tina ; Poewe, Werner ; Allen, Richard P ; Earley, Christopher J ; Ondo, William G ; Le, Wei-Dong ; Spieler, Derek ; Kaffe, Maria ; Zimprich, Alexander ; Kettunen, Johannes ; Perola, Markus ; Silander, Kaisa ; Cournu-Rebeix, Isabelle ; Francavilla, Marcella ; Fontenille, Claire ; Fontaine, Bertrand ; Vodicka, Pavel ; Prokisch, Holger ; Lichtner, Peter ; Peppard, Paul ; Faraco, Juliette ; Mignot, Emmanuel ; Gieger, Christian ; Illig, Thomas ; Wichmann, H-Erich ; Müller-Myhsok, Bertram ; Meitinger, Thomas McCarthy, Mark I.

PLoS genetics, 2011-07, Vol.7 (7), p.e1002171-e1002171 [Periódico revisado por pares]

United States: Public Library of Science

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4
Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway
Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway
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Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway

Li, Gang ; Diogo, Dorothée ; Wu, Di ; Spoonamore, Jim ; Dancik, Vlado ; Franke, Lude ; Kurreeman, Fina ; Rossin, Elizabeth J ; Duclos, Grant ; Hartland, Cathy ; Zhou, Xuezhong ; Li, Kejie ; Liu, Jun ; De Jager, Philip L ; Siminovitch, Katherine A ; Zhernakova, Alexandra ; Raychaudhuri, Soumya ; Bowes, John ; Eyre, Steve ; Padyukov, Leonid ; Gregersen, Peter K ; Worthington, Jane ; Gupta, Namrata ; Clemons, Paul A ; Stahl, Eli ; Tolliday, Nicola ; Plenge, Robert M McCarthy, Mark I.

PLoS genetics, 2013-05, Vol.9 (5), p.e1003487-e1003487 [Periódico revisado por pares]

United States: Public Library of Science

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5
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes
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Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes

Prescott, Natalie J ; Lehne, Benjamin ; Stone, Kristina ; Lee, James C ; Taylor, Kirstin ; Knight, Jo ; Papouli, Efterpi ; Mirza, Muddassar M ; Simpson, Michael A ; Spain, Sarah L ; Lu, Grace ; Fraternali, Franca ; Bumpstead, Suzannah J ; Gray, Emma ; Amar, Ariella ; Bye, Hannah ; Green, Peter ; Chung-Faye, Guy ; Hayee, Bu'Hussain ; Pollok, Richard ; Satsangi, Jack ; Parkes, Miles ; Barrett, Jeffrey C ; Mansfield, John C ; Sanderson, Jeremy ; Lewis, Cathryn M ; Weale, Michael E ; Schlitt, Thomas ; Mathew, Christopher G McCarthy, Mark I.

PLoS genetics, 2015-02, Vol.11 (2), p.e1004955-e1004955 [Periódico revisado por pares]

United States: Public Library of Science

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6
The mutational constraint spectrum quantified from variation in 141,456 humans
The mutational constraint spectrum quantified from variation in 141,456 humans
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The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, Konrad J ; Francioli, Laurent C ; Tiao, Grace ; Cummings, Beryl B ; Alföldi, Jessica ; Wang, Qingbo ; Collins, Ryan L ; Laricchia, Kristen M ; Ganna, Andrea ; Birnbaum, Daniel P ; Gauthier, Laura D ; Brand, Harrison ; Solomonson, Matthew ; Watts, Nicholas A ; Rhodes, Daniel ; Singer-Berk, Moriel ; England, Eleina M ; Seaby, Eleanor G ; Kosmicki, Jack A ; Walters, Raymond K ; Tashman, Katherine ; Farjoun, Yossi ; Banks, Eric ; Poterba, Timothy ; Wang, Arcturus ; Seed, Cotton ; Whiffin, Nicola ; Chong, Jessica X ; Samocha, Kaitlin E ; Pierce-Hoffman, Emma ; Zappala, Zachary ; O'Donnell-Luria, Anne H ; Minikel, Eric Vallabh ; Weisburd, Ben ; Lek, Monkol ; Ware, James S ; Vittal, Christopher ; Armean, Irina M ; Bergelson, Louis ; Cibulskis, Kristian ; Connolly, Kristen M ; Covarrubias, Miguel ; Donnelly, Stacey ; Ferriera, Steven ; Gabriel, Stacey ; Gentry, Jeff ; Gupta, Namrata ; Jeandet, Thibault ; Kaplan, Diane ; Llanwarne, Christopher ; Munshi, Ruchi ; Novod, Sam ; Petrillo, Nikelle ; Roazen, David ; Ruano-Rubio, Valentin ; Saltzman, Andrea ; Schleicher, Molly ; Soto, Jose ; Tibbetts, Kathleen ; Tolonen, Charlotte ; Wade, Gordon ; Talkowski, Michael E ; Neale, Benjamin M ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.434-443 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Comparative genomics reveals insights into avian genome evolution and adaptation
Comparative genomics reveals insights into avian genome evolution and adaptation
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Comparative genomics reveals insights into avian genome evolution and adaptation

Zhang, Guojie ; Li, Cai ; Li, Qiye ; Li, Bo ; Larkin, Denis M. ; Lee, Chul ; Storz, Jay F. ; Antunes, Agostinho ; Greenwold, Matthew J. ; Meredith, Robert W. ; Ödeen, Anders ; Cui, Jie ; Xu, Luohao ; Wang, Zongji ; Jin, Lijun ; Zhang, Pei ; Hu, Haofu ; Yang, Wei ; Hu, Jiang ; Xiao, Jin ; Yang, Zhikai ; Liu, Yang ; Xie, Qiaolin ; Yu, Hao ; Lian, Jinmin ; Wen, Ping ; Zhang, Fang ; Li, Hui ; Zeng, Yongli ; Xiong, Zijun ; Liu, Shiping ; Zhou, Long ; Huang, Zhiyong ; An, Na ; Wang, Jie ; Zheng, Qiumei ; Xiong, Yingqi ; Wang, Guangbiao ; Wang, Bo ; Wang, Jingjing ; Fan, Yu ; da Fonseca, Rute R. ; Alfaro-Núñez, Alonzo ; Schubert, Mikkel ; Orlando, Ludovic ; Mourier, Tobias ; Howard, Jason T. ; Ganapathy, Ganeshkumar ; Pfenning, Andreas ; Whitney, Osceola ; Rivas, Miriam V. ; Hara, Erina ; Smith, Julia ; Farré, Marta ; Narayan, Jitendra ; Slavov, Gancho ; Romanov, Michael N ; Borges, Rui ; Machado, João Paulo ; Khan, Imran ; Springer, Mark S. ; Gatesy, John ; Hoffmann, Federico G. ; Opazo, Juan C. ; Sawyer, Roger H. ; Kim, Heebal ; Kim, Kyu-Won ; Kim, Hyeon Jeong ; Cho, Seoae ; Li, Ning ; Huang, Yinhua ; Bruford, Michael W. ; Zhan, Xiangjiang ; Dixon, Andrew ; Bertelsen, Mads F. ; Derryberry, Elizabeth ; Warren, Wesley ; Wilson, Richard K ; Li, Shengbin ; Green, Richard E. ; Griffin, Darren ; Johnson, Warren E. ; Haussler, David ; Ryder, Oliver A. ; Willerslev, Eske ; Graves, Gary R. ; Alström, Per ; Fjeldså, Jon ; Mindell, David P. ; Edwards, Scott V. ; Rahbek, Carsten ; Burt, David W. ; Houde, Peter ; Zhang, Yong ; Yang, Huanming ; Wang, Jian ; Consortium, Avian Genome ; Jarvis, Erich D. ; Gilbert, M. Thomas P. ; Wang, Jun

Science (American Association for the Advancement of Science), 2014-12, Vol.346 (6215), p.1311-1320 [Periódico revisado por pares]

United States: American Association for the Advancement of Science

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8
A structural variation reference for medical and population genetics
A structural variation reference for medical and population genetics
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A structural variation reference for medical and population genetics

Collins, Ryan L ; Brand, Harrison ; Karczewski, Konrad J ; Zhao, Xuefang ; Alföldi, Jessica ; Francioli, Laurent C ; Khera, Amit V ; Lowther, Chelsea ; Gauthier, Laura D ; Wang, Harold ; Watts, Nicholas A ; Solomonson, Matthew ; O'Donnell-Luria, Anne ; Baumann, Alexander ; Munshi, Ruchi ; Walker, Mark ; Whelan, Christopher W ; Huang, Yongqing ; Brookings, Ted ; Sharpe, Ted ; Stone, Matthew R ; Valkanas, Elise ; Fu, Jack ; Tiao, Grace ; Laricchia, Kristen M ; Ruano-Rubio, Valentin ; Stevens, Christine ; Gupta, Namrata ; Cusick, Caroline ; Margolin, Lauren ; Taylor, Kent D ; Lin, Henry J ; Rich, Stephen S ; Post, Wendy S ; Chen, Yii-Der Ida ; Rotter, Jerome I ; Nusbaum, Chad ; Philippakis, Anthony ; Lander, Eric ; Gabriel, Stacey ; Neale, Benjamin M ; Kathiresan, Sekar ; Daly, Mark J ; Banks, Eric ; MacArthur, Daniel G ; Talkowski, Michael E

Nature (London), 2020-05, Vol.581 (7809), p.444-451 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes
Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes
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Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes

McCarthy, Davis J ; Rostom, Raghd ; Huang, Yuanhua ; Kunz, Daniel J ; Danecek, Petr ; Bonder, Marc Jan ; Hagai, Tzachi ; Lyu, Ruqian ; Wang, Wenyi ; Gaffney, Daniel J ; Simons, Benjamin D ; Stegle, Oliver ; Teichmann, Sarah A

Nature methods, 2020-04, Vol.17 (4), p.414-421 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
Analysis of protein-coding genetic variation in 60,706 humans
Analysis of protein-coding genetic variation in 60,706 humans
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Analysis of protein-coding genetic variation in 60,706 humans

Lek, Monkol ; Karczewski, Konrad J ; Minikel, Eric V ; Samocha, Kaitlin E ; Banks, Eric ; Fennell, Timothy ; O'Donnell-Luria, Anne H ; Ware, James S ; Hill, Andrew J ; Cummings, Beryl B ; Tukiainen, Taru ; Birnbaum, Daniel P ; Kosmicki, Jack A ; Duncan, Laramie E ; Estrada, Karol ; Zhao, Fengmei ; Zou, James ; Pierce-Hoffman, Emma ; Berghout, Joanne ; Cooper, David N ; Deflaux, Nicole ; DePristo, Mark ; Do, Ron ; Flannick, Jason ; Fromer, Menachem ; Gauthier, Laura ; Goldstein, Jackie ; Gupta, Namrata ; Howrigan, Daniel ; Kiezun, Adam ; Kurki, Mitja I ; Moonshine, Ami Levy ; Natarajan, Pradeep ; Orozco, Lorena ; Peloso, Gina M ; Poplin, Ryan ; Rivas, Manuel A ; Ruano-Rubio, Valentin ; Rose, Samuel A ; Ruderfer, Douglas M ; Shakir, Khalid ; Stenson, Peter D ; Stevens, Christine ; Thomas, Brett P ; Tiao, Grace ; Tusie-Luna, Maria T ; Weisburd, Ben ; Won, Hong-Hee ; Yu, Dongmei ; Altshuler, David M ; Ardissino, Diego ; Boehnke, Michael ; Danesh, John ; Donnelly, Stacey ; Elosua, Roberto ; Florez, Jose C ; Gabriel, Stacey B ; Getz, Gad ; Glatt, Stephen J ; Hultman, Christina M ; Kathiresan, Sekar ; Laakso, Markku ; McCarroll, Steven ; McCarthy, Mark I ; McGovern, Dermot ; McPherson, Ruth ; Neale, Benjamin M ; Palotie, Aarno ; Purcell, Shaun M ; Saleheen, Danish ; Scharf, Jeremiah M ; Sklar, Pamela ; Sullivan, Patrick F ; Tuomilehto, Jaakko ; Tsuang, Ming T ; Watkins, Hugh C ; Wilson, James G ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2016-08, Vol.536 (7616), p.285-291 [Periódico revisado por pares]

England: Nature Publishing Group

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