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: 87624C>A; Tyr29208Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: TTN: 87624C>A; Y29208*

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.

Circulation. Cardiovascular Genetics

Deo, Rahul C RC

Publication Date: 2016-10

Variant appearance in text: TTN: 87624C>A; Y29208X

PubMed Link: 27625338

Variant Present in the following documents:

• hcg-9-419-s001.pdf

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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: 87624C>A

PubMed Link: 27437901

Variant Present in the following documents:

• Main text

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