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: 3668G>A; Cys1223Tyr
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Nature Genetics
Doyle, Alexander J AJ; Doyle, Jefferson J JJ; Bessling, Seneca L SL; Maragh, Samantha S; Lindsay, Mark E ME; Schepers, Dorien D; Gillis, Elisabeth E; Mortier, Geert G; Homfray, Tessa T; Sauls, Kimberly K; Norris, Russell A RA; Huso, Nicholas D ND; Leahy, Dan D; Mohr, David W DW; Caulfield, Mark J MJ; Scott, Alan F AF; Destrée, Anne A; Hennekam, Raoul C RC; Arn, Pamela H PH; Curry, Cynthia J CJ; Van Laer, Lut L; McCallion, Andrew S AS; Loeys, Bart L BL; Dietz, Harry C HC
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
European Journal Of Human Genetics : Ejhg
Faivre, L L; Collod-Beroud, G G; Callewaert, B B; Child, A A; Binquet, C C; Gautier, E E; Loeys, B L BL; Arbustini, E E; Mayer, K K; Arslan-Kirchner, M M; Stheneur, C C; Kiotsekoglou, A A; Comeglio, P P; Marziliano, N N; Wolf, J E JE; Bouchot, O O; Khau-Van-Kien, P P; Beroud, C C; Claustres, M M; Bonithon-Kopp, C C; Robinson, P N PN; Adès, L L; De Backer, J J; Coucke, P P; Francke, U U; De Paepe, A A; Jondeau, G G; Boileau, C C
Publication Date: 2009-04
Variant appearance in text: FBN1: 3668G>A; Cys1223Tyr