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: 46782C>A; Tyr15594Ter
Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.
Science (New York, N.Y.)
Reichart, Daniel D; Lindberg, Eric L EL; Maatz, Henrike H; Miranda, Antonio M A AMA; Viveiros, Anissa A; Shvetsov, Nikolay N; Gärtner, Anna A; Nadelmann, Emily R ER; Lee, Michael M; Kanemaru, Kazumasa K; Ruiz-Orera, Jorge J; Strohmenger, Viktoria V; DeLaughter, Daniel M DM; Patone, Giannino G; Zhang, Hao H; Woehler, Andrew A; Lippert, Christoph C; Kim, Yuri Y; Adami, Eleonora E; Gorham, Joshua M JM; Barnett, Sam N SN; Brown, Kemar K; Buchan, Rachel J RJ; Chowdhury, Rasheda A RA; Constantinou, Chrystalla C; Cranley, James J; Felkin, Leanne E LE; Fox, Henrik H; Ghauri, Ahla A; Gummert, Jan J; Kanda, Masatoshi M; Li, Ruoyan R; Mach, Lukas L; McDonough, Barbara B; Samari, Sara S; Shahriaran, Farnoush F; Yapp, Clarence C; Stanasiuk, Caroline C; Theotokis, Pantazis I PI; Theis, Fabian J FJ; van den Bogaerdt, Antoon A; Wakimoto, Hiroko H; Ware, James S JS; Worth, Catherine L CL; Barton, Paul J R PJR; Lee, Young-Ae YA; Teichmann, Sarah A SA; Milting, Hendrik H; Noseda, Michela M; Oudit, Gavin Y GY; Heinig, Matthias M; Seidman, Jonathan G JG; Hubner, Norbert N; Seidman, Christine E CE
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
Publication Date: 2020-02-04
Variant appearance in text: TTN: 46782C>A; Tyr15594X