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: 101107C>T; Arg33703Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: Arg33703Ter; rs766265889

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

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Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.

Journal Of The American Heart Association

Ramchand, Jay J; Wallis, Mathew M; Macciocca, Ivan I; Lynch, Elly E; Farouque, Omar O; Martyn, Melissa M; Phelan, Dean D; Chong, Belinda B; Lockwood, Siobhan S; Weintraub, Robert R; Thompson, Tina T; Trainer, Alison A; Zentner, Dominica D; Vohra, Jitendra J; Chetrit, Michael M; Hare, David L DL; James, Paul P

Publication Date: 2020-01-21

Variant appearance in text: TTN: 101107C>T; Arg33703*

PubMed Link: 31931689

Variant Present in the following documents:

• Main text

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Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.

Scientific Reports

Zaklyazminskaya, Elena E; Mikhailov, Vadim V; Bukaeva, Anna A; Kotlukova, Natalia N; Povolotskaya, Inna I; Kaimonov, Vladimir V; Dombrovskaya, Anna A; Dzemeshkevich, Sergey S

Publication Date: 2019-11-11

Variant appearance in text: TTN: Arg33703Ter; rs766265889

PubMed Link: 31712709

Variant Present in the following documents:

• Main text
• 41598_2019_Article_52911.pdf

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