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: FBN1: 3617G>A; Gly1206Asp

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: FBN1: G1206D

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

Molecular Genetics & Genomic Medicine

Gong, Bo B; Yang, Lan L; Wang, Qingwei Q; Ye, Zimeng Z; Guo, Xiaoxin X; Yang, Chen C; Hao, Fang F; Shi, Yi Y; Huang, Yi Y; Qu, Chao C; Yang, Zhenglin Z

Publication Date: 2019-04

Variant appearance in text: FBN1: 3617G>A; G1206D

PubMed Link: 30838813

Variant Present in the following documents:

• Main text

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