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: NOTCH1: 6049_6050del; Ser2017fs
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Human Mutation
Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W
Publication Date: 2018-09
Variant appearance in text: NOTCH1: 6049_6050delTC; Ser2017Thrfs*9
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Circulation. Cardiovascular Genetics
Southgate, Laura L; Sukalo, Maja M; Karountzos, Anastasios S V ASV; Taylor, Edward J EJ; Collinson, Claire S CS; Ruddy, Deborah D; Snape, Katie M KM; Dallapiccola, Bruno B; Tolmie, John L JL; Joss, Shelagh S; Brancati, Francesco F; Digilio, M Cristina MC; Graul-Neumann, Luitgard M LM; Salviati, Leonardo L; Coerdt, Wiltrud W; Jacquemin, Emmanuel E; Wuyts, Wim W; Zenker, Martin M; Machado, Rajiv D RD; Trembath, Richard C RC
Publication Date: 2015-08
Variant appearance in text: NOTCH1: 6049_6050delTC; S2017Tfs*9