Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: SCN5A: 1540G>T; Gly514Cys
SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.
Circulation. Genomic And Precision Medicine
Wijeyeratne, Yanushi D YD; Tanck, Michael W MW; Mizusawa, Yuka Y; Batchvarov, Velislav V; Barc, Julien J; Crotti, Lia L; Bos, J Martijn JM; Tester, David J DJ; Muir, Alison A; Veltmann, Christian C; Ohno, Seiko S; Page, Stephen P SP; Galvin, Joseph J; Tadros, Rafik R; Muggenthaler, Martina M; Raju, Hariharan H; Denjoy, Isabelle I; Schott, Jean-Jacques JJ; Gourraud, Jean-Baptiste JB; Skoric-Milosavljevic, Doris D; Nannenberg, Eline A EA; Redon, Richard R; Papadakis, Michael M; Kyndt, Florence F; Dagradi, Federica F; Castelletti, Silvia S; Torchio, Margherita M; Meitinger, Thomas T; Lichtner, Peter P; Ishikawa, Taisuke T; Wilde, Arthur A M AAM; Takahashi, Kazuhiro K; Sharma, Sanjay S; Roden, Dan M DM; Borggrefe, Martin M MM; McKeown, Pascal P PP; Shimizu, Wataru W; Horie, Minoru M; Makita, Naomasa N; Aiba, Takeshi T; Ackerman, Michael J MJ; Schwartz, Peter J PJ; Probst, Vincent V; Bezzina, Connie R CR; Behr, Elijah R ER
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: SCN5A: G514C; rs137854606