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: MYH7: 1283C>A; Ala428Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: MYH7: A428D

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Journal Of The American Heart Association

Al-Wakeel-Marquard, Nadya N; Degener, Franziska F; Herbst, Christopher C; Kühnisch, Jirko J; Dartsch, Josephine J; Schmitt, Boris B; Kuehne, Titus T; Messroghli, Daniel D; Berger, Felix F; Klaassen, Sabine S

Publication Date: 2019-08-06

Variant appearance in text: MYH7: Ala428Asp

PubMed Link: 31333075

Variant Present in the following documents:

• Main text
• JAH3-8-e012531.pdf

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