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: 1095C>A; Cys365Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

European Journal Of Human Genetics : Ejhg

Chesneau, Bertrand B; Plancke, Aurélie A; Rolland, Guillaume G; Chassaing, Nicolas N; Coubes, Christine C; Brischoux-Boucher, Elise E; Edouard, Thomas T; Dulac, Yves Y; Aubert-Mucca, Marion M; Lavabre-Bertrand, Thierry T; Plaisancié, Julie J; Khau Van Kien, Philippe P

Publication Date: 2021-05

Variant appearance in text: FBN1: 1095C>A

PubMed Link: 33414558

Variant Present in the following documents:

• Main text
• 41431_2020_Article_797.pdf

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