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: ACVRL1: 853C>T; Leu285Phe
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
European Journal Of Human Genetics : Ejhg
Wooderchak-Donahue, Whitney L WL; Johnson, Peter P; McDonald, Jamie J; Blei, Francine F; Berenstein, Alejandro A; Sorscher, Michelle M; Mayer, Jennifer J; Scheuerle, Angela E AE; Lewis, Tracey T; Grimmer, J Fredrik JF; Richter, Gresham T GT; Steeves, Marcie A MA; Lin, Angela E AE; Stevenson, David A DA; Bayrak-Toydemir, Pinar P
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