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: BMPR2: 367T>A; Cys123Ser
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
American Journal Of Human Genetics
Machado, R D RD; Pauciulo, M W MW; Thomson, J R JR; Lane, K B KB; Morgan, N V NV; Wheeler, L L; Phillips, J A JA; Newman, J J; Williams, D D; Galiè, N N; Manes, A A; McNeil, K K; Yacoub, M M; Mikhail, G G; Rogers, P P; Corris, P P; Humbert, M M; Donnai, D D; Martensson, G G; Tranebjaerg, L L; Loyd, J E JE; Trembath, R C RC; Nichols, W C WC