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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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2
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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3
Transcript expression-aware annotation improves rare variant interpretation
Transcript expression-aware annotation improves rare variant interpretation
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Transcript expression-aware annotation improves rare variant interpretation

Cummings, Beryl B ; Karczewski, Konrad J ; Kosmicki, Jack A ; Seaby, Eleanor G ; Watts, Nicholas A ; Singer-Berk, Moriel ; Mudge, Jonathan M ; Karjalainen, Juha ; Satterstrom, F Kyle ; O'Donnell-Luria, Anne H ; Poterba, Timothy ; Seed, Cotton ; Solomonson, Matthew ; Alföldi, Jessica ; Daly, Mark J ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.452-458 [Periódico revisado por pares]

England: Nature Publishing Group

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4
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals
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The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Ferreira, Teresa ; Chasman, Daniel I ; Johnson, Toby ; Luan, Jian'an ; Donnelly, Lousie A ; Kanoni, Stavroula ; Strawbridge, Rona J ; Meirelles, Osorio ; Bouatia-Naji, Nabila ; Salfati, Elias L ; Rallidis, Loukianos S ; Joehanes, Roby ; Lataniotis, Lazaros ; Johnson, Andrew D ; Warren, Helen ; Bochud, Murielle ; Arking, Dan E ; Bandinelli, Stefania ; Barnes, Michael R ; Barroso, Inês ; Bis, Joshua C ; Burnier, Michel ; Cheng, Ching-Yu ; Dallongeville, Jean ; de Faire, Ulf ; Enroth, Stefan ; Erdmann, Jeanette ; Evangelou, Evangelos ; Evans, Alun ; Ferrières, Jean ; Ferrucci, Luigi ; Fornage, Myriam ; Forrester, Terrence ; Gao, He ; Gräßler, Jürgen ; Gudnason, Vilmundur ; Gyllensten, Ulf ; Hartikainen, Anna-Liisa ; Hayward, Caroline ; Hercberg, Serge ; Hirschhorn, Joel N ; Hottenga, Jouke-Jan ; Howard, Phil ; Illig, Thomas ; Iribarren, Carlos ; Kang, Hyun ; Khaw, Kay-Tee ; Klopp, Norman ; Komulainen, Pirjo ; Krauss, Ronald M ; Kutalik, Zoltan ; Lakka, Timo A ; Li, Xiaohui ; Liang, Kae-Woei ; Lindström, Jaana ; Müller, Gabriele ; Mach, François ; Markus, Hugh S ; Meneton, Pierre ; Mijatovic, Vladan ; Montasser, May E ; Parsa, Afshin ; Penninx, Brenda W ; Peters, Annette ; Poulter, Neil ; Quertermous, Thomas ; Rao, Dabeeru C ; Rasheed, Asif ; Roberts, Robert ; Schunkert, Heribert ; Sim, Xueling ; Stančáková, Alena ; Stanton, Alice ; Stirrups, Kathleen E ; Stringham, Heather M ; Syvänen, Ann-Christine ; Tai, E-Shyong ; Teumer, Alexander ; Tremoli, Elena ; Uitterlinden, Andre G ; van Duijn, Cornelia M ; Vasan, Ramachandran S ; Vitart, Veronique ; Vollenweider, Peter ; Wain, Louise V ; Yang, Tsun-Po ; Yengo, Loic ; Zhao, Jing Hua ; Bovet, Pascal ; Dedoussis, George ; Lind, Lars ; Schwarz, Peter Eh ; Snieder, Harold ; Melander, Olle ; Hveem, Kristian ; Kumari, Meena ; Wichmann, H-Erich ; Palmer, Colin N A ; Loos, Ruth J F ; Morris, Andrew P

Nature genetics, 2016-10, Vol.48 (10), p.1171-1184 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
Evaluating drug targets through human loss-of-function genetic variation
Evaluating drug targets through human loss-of-function genetic variation
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Evaluating drug targets through human loss-of-function genetic variation

Minikel, Eric Vallabh ; Karczewski, Konrad J ; Martin, Hilary C ; Cummings, Beryl B ; Whiffin, Nicola ; Rhodes, Daniel ; Alföldi, Jessica ; Trembath, Richard C ; van Heel, David A ; Daly, Mark J ; Schreiber, Stuart L ; MacArthur, Daniel G

Nature (London), 2020-05, Vol.581 (7809), p.459-464 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B ; Alföldi, Jessica ; Francioli, Laurent C ; Gauthier, Laura D ; Hill, Andrew J ; O'Donnell-Luria, Anne H ; Karczewski, Konrad J ; MacArthur, Daniel G

Nature communications, 2020-05, Vol.11 (1), p.2539-13, Article 2539 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Genetic variants from lipid-related pathways and risk for incident myocardial infarction
Genetic variants from lipid-related pathways and risk for incident myocardial infarction
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Genetic variants from lipid-related pathways and risk for incident myocardial infarction

Song, Ci ; Pedersen, Nancy L ; Reynolds, Chandra A ; Sabater-Lleal, Maria ; Kanoni, Stavroula ; Willenborg, Christina ; Syvänen, Ann-Christine ; Watkins, Hugh ; Hamsten, Anders ; Prince, Jonathan A ; Ingelsson, Erik Dubé, Marie-Pierre

PloS one, 2013-03, Vol.8 (3), p.e60454-e60454 [Periódico revisado por pares]

United States: Public Library of Science

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8
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure
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Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Wain, Louise V ; Verwoert, Germaine C ; O'Reilly, Paul F ; Johnson, Andrew D ; Bochud, Murielle ; Henneman, Peter ; Amin, Najaf ; Larson, Martin G ; Janssens, A Cecile J W ; Fu, Jingyuan ; Pistis, Giorgio ; Luan, Jian'an ; Lucas, Gavin ; Pirastu, Nicola ; Pichler, Irene ; Webster, Rebecca J ; Zhang, Feng ; Igl, Wilmar ; Chasman, Daniel I ; Trompet, Stella ; Alizadeh, Behrooz Z ; Chambers, John C ; Guo, Xiuqing ; Lehtimäki, Terho ; Kühnel, Brigitte ; Lopez, Lorna M ; Polašek, Ozren ; Pihur, Vasyl ; Ganesh, Santhi K ; Kundu, Suman ; Rivadeneira, Fernando ; Sijbrands, Eric J G ; Hwang, Shih-Jen ; Vasan, Ramachandran S ; Bergmann, Sven ; Laitinen, Jaana ; Pouta, Anneli ; Zitting, Paavo ; Völker, Uwe ; Glazer, Nicole L ; Harris, Tamara B ; Haller, Toomas ; Keis, Aime ; Khaw, Kay-Tee ; Hercberg, Serge ; Lathrop, Mark ; Org, Elin ; Sõber, Siim ; Lu, Xiaowen ; Nolte, Ilja M ; Corre, Tanguy ; Masciullo, Corrado ; Del Greco M, Fabiola ; Bergman, Richard N ; Hung, Joseph ; Soranzo, Nicole ; Watkins, Hugh ; Goel, Anuj ; Hamsten, Anders ; Gider, Pierre ; Zeginigg, Marion ; Navarro, Pau ; Wild, Sarah H ; Singleton, Andrew ; Parker, Alex N ; Orru, Marco ; Uda, Manuela ; Zhang, Weihua ; Kähönen, Mika ; Döring, Angela ; Meitinger, Thomas ; Emilsson, Valur ; König, Inke R ; Felix, Janine F ; Clarke, Robert ; DeStefano, Anita L ; Stefansson, Kari ; Thorleifsson, Gudmar ; Wichmann, H-Erich ; Raitakari, Olli T ; Palmas, Walter ; Kooner, Jaspal S ; Stolk, Ronald P ; Ferrucci, Luigi ; Farrall, Martin ; Spector, Tim D ; Palmer, Lyle J ; Tuomilehto, Jaakko ; Gasparini, Paolo ; Gieger, Christian ; Meneton, Pierre ; Metspalu, Andres ; Rettig, Rainer ; Strachan, David P ; van Dijk, Ko Willems ; Boehnke, Michael ; Ridker, Paul M ; Abecasis, Goncalo R ; Newton-Cheh, Christopher ; Levy, Daniel

Nature genetics, 2011-10, Vol.43 (10), p.1005-1011 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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9
A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein
A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein
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A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein

Kovacs, Alexander ; Green, Fiona ; Hansson, Lars-Olof ; Lundman, Pia ; Samnegård, Ann ; Boquist, Susanna ; Ericsson, Carl-Göran ; Watkins, Hugh ; Hamsten, Anders ; Tornvall, Per

Atherosclerosis, 2005, Vol.178 (1), p.193-198 [Periódico revisado por pares]

Amsterdam: Elsevier Ireland Ltd

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10
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study
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Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study

de Vries, Paul S ; Sabater-Lleal, Maria ; Chasman, Daniel I ; Trompet, Stella ; Ahluwalia, Tarunveer S ; Teumer, Alexander ; Kleber, Marcus E ; Chen, Ming-Huei ; Wang, Jie Jin ; Attia, John R ; Marioni, Riccardo E ; Steri, Maristella ; Weng, Lu-Chen ; Pool, Rene ; Grossmann, Vera ; Brody, Jennifer A ; Venturini, Cristina ; Tanaka, Toshiko ; Rose, Lynda M ; Oldmeadow, Christopher ; Mazur, Johanna ; Basu, Saonli ; Frånberg, Mattias ; Yang, Qiong ; Ligthart, Symen ; Hottenga, Jouke J ; Rumley, Ann ; Mulas, Antonella ; de Craen, Anton J M ; Grotevendt, Anne ; Taylor, Kent D ; Delgado, Graciela E ; Kifley, Annette ; Lopez, Lorna M ; Berentzen, Tina L ; Mangino, Massimo ; Bandinelli, Stefania ; Morrison, Alanna C ; Hamsten, Anders ; Tofler, Geoffrey ; de Maat, Moniek P M ; Draisma, Harmen H M ; Lowe, Gordon D ; Zoledziewska, Magdalena ; Sattar, Naveed ; Lackner, Karl J ; Völker, Uwe ; McKnight, Barbara ; Huang, Jie ; Holliday, Elizabeth G ; McEvoy, Mark A ; Starr, John M ; Hysi, Pirro G ; Hernandez, Dena G ; Guan, Weihua ; Rivadeneira, Fernando ; McArdle, Wendy L ; Slagboom, P Eline ; Zeller, Tanja ; Psaty, Bruce M ; Uitterlinden, André G ; de Geus, Eco J C ; Stott, David J ; Binder, Harald ; Hofman, Albert ; Franco, Oscar H ; Rotter, Jerome I ; Ferrucci, Luigi ; Spector, Tim D ; Deary, Ian J ; März, Winfried ; Greinacher, Andreas ; Wild, Philipp S ; Cucca, Francesco ; Boomsma, Dorret I ; Watkins, Hugh ; Tang, Weihong ; Ridker, Paul M ; Jukema, Jan W ; Scott, Rodney J ; Mitchell, Paul ; Hansen, Torben ; O'Donnell, Christopher J ; Smith, Nicholas L ; Strachan, David P ; Dehghan, Abbas Yao, Yong-Gang

PloS one, 2017, Vol.12 (1), p.e0167742-e0167742 [Periódico revisado por pares]

United States: Public Library of Science

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