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: 4531T>C; Cys1511Arg
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: FBN1: C1511R; rs397515811
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Circulation. Genomic And Precision Medicine
Wolford, Brooke N BN; Hornsby, Whitney E WE; Guo, Dongchuan D; Zhou, Wei W; Lin, Maoxuan M; Farhat, Linda L; McNamara, Jennifer J; Driscoll, Anisa A; Wu, Xiaoting X; Schmidt, Ellen M EM; Norton, Elizabeth L EL; Mathis, Michael R MR; Ganesh, Santhi K SK; Douville, Nicholas J NJ; Brummett, Chad M CM; Kitzman, Jacob J; Chen, Y Eugene YE; Kim, Karen K; Deeb, G Michael GM; Patel, Himanshu H; Eagle, Kim A KA; Milewicz, Dianna M DM; J Willer, Cristen C; Yang, Bo B
Publication Date: 2019-06
Variant appearance in text: FBN1: C1511R; rs397515811