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: TTN: 92317C>T; Arg30773Ter
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.
Circulation. Genomic And Precision Medicine
Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW
Publication Date: 2022-10-20
Variant appearance in text: TTN: Arg30773Ter; rs794729301
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Jama Cardiology
Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB
Publication Date: 2021-12-01
Variant appearance in text: TTN: 92317C>T; Arg30773X