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: 2047G>A; Ala683Thr
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24
Variant appearance in text: NOTCH1: 2047G>A; Ala683Thr; rs756434709
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Frontiers In Genetics
Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2021
Variant appearance in text: NOTCH1: 2047G>A; Ala683Thr; rs756434709
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circulation Research
Page, Donna J DJ; Miossec, Matthieu J MJ; Williams, Simon G SG; Monaghan, Richard M RM; Fotiou, Elisavet E; Cordell, Heather J HJ; Sutcliffe, Louise L; Topf, Ana A; Bourgey, Mathieu M; Bourque, Guillaume G; Eveleigh, Robert R; Dunwoodie, Sally L SL; Winlaw, David S DS; Bhattacharya, Shoumo S; Breckpot, Jeroen J; Devriendt, Koenraad K; Gewillig, Marc M; Brook, J David JD; Setchfield, Kerry J KJ; Bu'Lock, Frances A FA; O'Sullivan, John J; Stuart, Graham G; Bezzina, Connie R CR; Mulder, Barbara J M BJM; Postma, Alex V AV; Bentham, James R JR; Baron, Martin M; Bhaskar, Sanjeev S SS; Black, Graeme C GC; Newman, William G WG; Hentges, Kathryn E KE; Lathrop, G Mark GM; Santibanez-Koref, Mauro M; Keavney, Bernard D BD
Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Genetic Epidemiology
Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR