Publications:

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: 81518del; Pro27173fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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

Publication Date: 2022-08-05

Variant appearance in text: TTN: 81518del

PubMed Link: 35926050

Variant Present in the following documents:

• NIHMS1835045-supplement-Supp__table_1.xlsx, sheet 2

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Recovery of Cardiac Function in Cardiomyopathy Caused by Titin Truncation.

Jama Cardiology

Felkin, Leanne E LE; Walsh, Roddy R; Ware, James S JS; Yacoub, Magdi H MH; Birks, Emma J EJ; Barton, Paul J R PJ; Cook, Stuart A SA

Publication Date: 2016-05-01

Variant appearance in text: TTN: 81518delC

PubMed Link: 27437901

Variant Present in the following documents:

• Main text

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