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1
A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease
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A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

Nikpay, Majid ; Goel, Anuj ; Won, Hong-Hee ; Hall, Leanne M ; Willenborg, Christina ; Kanoni, Stavroula ; Kyriakou, Theodosios ; Nelson, Christopher P ; Harris, Tamara B ; Hazen, Stanley L ; Hengstenberg, Christian ; Hofman, Albert ; Ingelsson, Erik ; Iribarren, Carlos ; Jukema, J Wouter ; Karhunen, Pekka J ; Kim, Bong-Jo ; Webb, Thomas R ; Kullo, Iftikhar J ; Loos, Ruth JF ; Melander, Olle ; Metspalu, Andres ; Palmer, Colin N ; Quertermous, Thomas ; Rader, Daniel J ; Zeng, Lingyao ; Ridker, Paul M ; Roberts, Robert ; Schwartz, Stephen M ; Stewart, Alexandre F ; Stott, David J ; Thiery, Joachim ; Dehghan, Abbas ; Zalloua, Pierre A ; O'Donnell, Christopher J ; Thompson, John R ; Erdmann, Jeanette ; Clarke, Robert ; Kathiresan, Sekar ; McPherson, Ruth ; Alver, Maris ; Deloukas, Panos ; Samani, Nilesh J ; Farrall, Martin ; Auro, Kirsi ; Bjonnes, Andrew ; Chasman, Daniel I ; Chen, Shufeng ; d, Ian ; Franceschini, Nora ; Gieger, Christian ; Grace, Christopher ; Gustafsson, Stefan ; Huang, Jie ; Kim, Yun Kyoung ; Lau, King Wai ; Lyytikäinen, Leo-Pekka ; Morrison, Alanna C ; Pervjakova, Natalia ; Rose, Lynda M ; Salfati, Elias ; Saxena, Richa ; Scholz, Markus ; Tikkanen, Emmi ; Uitterlinden, Andre ; Zhang, Weihua ; de Andrade, Mariza ; van Zuydam, Natalie R ; Dedoussis, George ; Frossard, Philippe ; Gauguier, Dominique ; Goodall, Alison H ; Gottesman, Omri ; Haber, Marc ; Huang, Jianfeng ; König, Inke R ; Lannfelt, Lars ; Lind, Lars ; Lindgren, Cecilia M ; Magnusson, Patrik K ; Mallick, Nadeem H ; Meitinger, Thomas ; Memon, Fazal-ur-Rehman ; Morris, Andrew P ; Nieminen, Markku S ; Rallidis, Loukianos S ; Rasheed, Asif ; Sinisalo, Juha ; Stirrups, Kathleen E ; Wang, Laiyuan ; Ardissino, Diego ; Boerwinkle, Eric ; Bottinger, Erwin P ; Buring, Julie E ; Chambers, John C ; Cupples, L Adrienne ; Danesh, John ; Demuth, Ilja ; Gudnason, Roberto ; Hamsten, Anders

Nature genetics, 2015-10, Vol.47 (10), p.1121-1130 [Periódico revisado por pares]

New York: Nature Publishing Group

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2
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls
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Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Mercader, Josep M ; Udler, Miriam S ; Wessel, Jennifer ; Teslovich, Tanya M ; Caulkins, Lizz ; Barajas-Olmos, Francisco ; Boerwinkle, Eric ; Chen, Ling ; Contreras-Cubas, Cecilia ; Córdova, Emilio ; Correa, Adolfo ; DeFronzo, Ralph A ; Dolan, Lawrence ; Elliott, Amanda ; Floyd, James S ; Garay-Sevilla, Maria Eugenia ; García-Ortiz, Humberto ; Heard-Costa, Nancy L ; Jørgensen, Marit E ; Kang, Hyun Min ; Kelsey, Megan ; Linneberg, Allan ; Liu, Ching-Ti ; Liu, Jianjun ; Lyssenko, Valeriya ; Marcketta, Anthony ; Martínez-Hernández, Angélica ; Mayer-Davis, Elizabeth ; Morrison, Alanna C ; Ndungu, Anne ; Ng, Maggie C Y ; O'Dushlaine, Colm ; Post, Wendy S ; Vasan, Ramachandran S ; Rayner, N William ; Revilla-Monsalve, Cristina ; Santoro, Nicola ; Schurmann, Claudia ; Soberón, Xavier ; Strom, Tim M ; Thameem, Farook ; Torres, Jason M ; Vujkovic, Marijana ; Witte, Daniel R ; Atzmon, Gil ; Blangero, John ; Bonnycastle, Lori L ; Chan, Edmund ; Cheng, Ching-Yu ; Collins, Francis S ; de Vries, Paul S ; Glaser, Benjamin ; Gonzalez, Ma Elena ; Groop, Leif ; Kooner, Jaspal Singh ; Kwak, Soo Heon ; Laakso, Markku ; Nilsson, Peter ; Spector, Timothy D ; Tai, E Shyong ; Tuomilehto, Jaakko ; Wilson, James G ; Burke, Brian ; Carey, David J ; Frossard, Philippe ; Hwang, Mi Yeong ; Kim, Young Jin ; Kirchner, H Lester ; Lee, Jong-Young ; Lee, Juyoung ; Loos, Ruth J F ; Ma, Ronald C W ; Morris, Andrew D ; Palmer, Colin N A ; Pankow, James ; Rasheed, Asif ; Saleheen, Danish ; Sim, Xueling ; Small, Kerrin S ; Teo, Yik Ying ; Haiman, Christopher ; Hanis, Craig L ; Dewey, Frederick E ; Baras, Aris ; Gieger, Christian ; Meitinger, Thomas ; Lange, Leslie ; Pedersen, Oluf ; Zeitler, Philip ; Dabelea, Dana ; Abecasis, Goncalo ; Cox, Nancy J ; Sladek, Rob ; Meigs, James B ; Rotter, Jerome I ; Altshuler, David ; Burtt, Noël P ; Morris, Andrew P ; Florez, Jose C ; Boehnke, Michael

Nature (London), 2019-06, Vol.570 (7759), p.71-76 [Periódico revisado por pares]

England: Nature Publishing Group

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3
The Cancer Genome Atlas Pan-Cancer analysis project
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The Cancer Genome Atlas Pan-Cancer analysis project

Weinstein, John N ; Collisson, Eric A ; Mills, Gordon B ; Shaw, Kenna R Mills ; Ozenberger, Brad A ; Ellrott, Kyle ; Shmulevich, Ilya ; Sander, Chris ; Stuart, Joshua M

Nature genetics, 2013-10, Vol.45 (10), p.1113-1120 [Periódico revisado por pares]

United States: Nature Publishing Group

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4
The mutational constraint spectrum quantified from variation in 141,456 humans
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Artigo
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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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5
A reference panel of 64,976 haplotypes for genotype imputation
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Artigo
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A reference panel of 64,976 haplotypes for genotype imputation

Das, 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, Richard

Nature genetics, 2016-10, Vol.48 (10), p.1279-1283 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
The repertoire of mutational signatures in human cancer
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Artigo
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The repertoire of mutational signatures in human cancer

Alexandrov, Ludmil B ; Kim, Jaegil ; Haradhvala, Nicholas J ; Huang, Mi Ni ; Tian Ng, Alvin Wei ; Wu, Yang ; Boot, Arnoud ; Covington, Kyle R ; Gordenin, Dmitry A ; Bergstrom, Erik N ; Islam, S M Ashiqul ; Lopez-Bigas, Nuria ; Klimczak, Leszek J ; McPherson, John R ; Morganella, Sandro ; Sabarinathan, Radhakrishnan ; Wheeler, David A ; Mustonen, Ville ; Getz, Gad ; Rozen, Steven G ; Stratton, Michael R

Nature (London), 2020-02, Vol.578 (7793), p.94-101 [Periódico revisado por pares]

England: Nature Publishing Group

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7
A saturated map of common genetic variants associated with human height
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A saturated map of common genetic variants associated with human height

Yengo, Loïc ; Karaderi, Tugce ; Vrieze, Scott ; Alvarez, Marcus ; Arbeeva, Liubov ; Bhaskar, Seema ; Brody, Jennifer A ; Burgdorf, Kristoffer S ; Cai, Qiuyin ; Chang, Li-Ching ; Couture, Christian ; Dietl, Alexander ; Giannakopoulou, Olga ; Gjesing, Anette P ; Havulinna, Aki S ; Hindy, George ; Johansson, Ingegerd ; Jørgensen, Torben ; Kanoni, Stavroula ; Kim, Han-Na ; Le, Phuong ; Lin, Shih-Yi ; Liu, Jun ; Long, Jirong ; Mavarani, Laven ; Nakatochi, Masahiro ; Nethander, Maria ; Pandit, Anita ; Christofidou, Paraskevi ; Pyarajan, Saiju ; Rakugi, Hiromi ; Rasheed, Asif ; Raven, Dennis ; Riveros, Carlos ; Sendamarai, Anoop ; Sitlani, Colleen M ; Taylor, Kent D ; Tayo, Bamidele O ; Theusch, Elizabeth ; Vaccargiu, Simona ; van der Laan, Sander W ; Verma, Shefali S ; Veturi, Yogasudha ; Wang, Chaolong ; Bin Wei, Wen ; Wu, Yang ; Xia, Rui ; Zimmermann, Martina E ; Zoledziewska, Magdalena ; Åsvold, Bjørn Olav ; Biino, Ginevra ; Boomsma, Dorret I ; Brumpton, Ben ; Chambers, John C ; Ciullo, Marina ; Janaka de Silva, H ; Dedoussis, George V ; Feitosa, Mary F ; Ford, Ian ; Hewitt, Alex W ; Huang, Paul L ; Jukema, J Wouter ; Kang, Kui Dong ; Kessler, Thorsten ; Koh, Woon-Puay ; Lieb, Wolfgang ; Lye, Stephen J ; McGarrah, Robert W ; Mellström, Dan ; Mucci, Lorelei A ; Orozco, Lorena ; Qu, Jia ; Rader, Daniel J ; Rallidis, Loukianos S ; Rao, Dabeeru C ; Rhee, Sang Youl ; Rudan, Igor ; Schmidt, Börge ; Schmidt, Helena ; Schulze, Matthias B ; Simonsick, Eleanor M ; Singleton, Andrew B ; Stampfer, Meir J ; 't Hart, Leen M ; Timpson, Nicholas J ; Tremblay, Angelo ; Tusié-Luna, Maria-Teresa ; van der Harst, Pim ; van Schoor, Natasja M ; Widen, Elisabeth ; Willemsen, Gonneke ; Willett, Walter C ; Wilson, James F ; Yuan, Jian-Min ; Zhu, Xiaofeng ; O'Donnell, Christopher J ; Sun, Yan V ; Justice, Anne E ; Winkler, Thomas W ; Willer, Cristen J

Nature (London), 2022, Vol.610 (7933), p.704-712 [Periódico revisado por pares]

England: Nature Publishing Group

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8
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
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes article
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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes article

Mahajan, Anubha ; Wessel, Jennifer ; Willems, Sara M ; Zhao, Wei ; Robertson, Neil R ; Chu, Audrey Y. ; Kravic, Jasmina ; Ahlqvist, Emma ; Rosengren, Anders ; Groop, Leif ; V Varga, Tibor ; Franks, Paul ; Almgren, Peter ; Melander, Olle ; Orho-Melander, Marju ; McCarthy, Mark I.

Nature genetics, 2018-04, Vol.50 (4), p.559 [Periódico revisado por pares]

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10
The evolutionary history of 2,658 cancers
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The evolutionary history of 2,658 cancers

Gerstung, Moritz ; Jolly, Clemency ; Leshchiner, Ignaty ; Dentro, Stefan C ; Gonzalez, Santiago ; Rosebrock, Daniel ; Mitchell, Thomas J ; Rubanova, Yulia ; Anur, Pavana ; Yu, Kaixian ; Tarabichi, Maxime ; Deshwar, Amit ; Wintersinger, Jeff ; Kleinheinz, Kortine ; Vázquez-García, Ignacio ; Haase, Kerstin ; Jerman, Lara ; Sengupta, Subhajit ; Macintyre, Geoff ; Malikic, Salem ; Donmez, Nilgun ; Livitz, Dimitri G ; Cmero, Marek ; Demeulemeester, Jonas ; Schumacher, Steven ; Fan, Yu ; Yao, Xiaotong ; Lee, Juhee ; Schlesner, Matthias ; Boutros, Paul C ; Bowtell, David D ; Zhu, Hongtu ; Getz, Gad ; Imielinski, Marcin ; Beroukhim, Rameen ; Sahinalp, S Cenk ; Ji, Yuan ; Peifer, Martin ; Markowetz, Florian ; Mustonen, Ville ; Yuan, Ke ; Wang, Wenyi ; Morris, Quaid D ; Spellman, Paul T ; Wedge, David C ; Van Loo, Peter

Nature (London), 2020-02, Vol.578 (7793), p.122-128 [Periódico revisado por pares]

England: Nature Publishing Group

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