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: CFTR: 680T>G; Leu227Arg
Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
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
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
The Journal Of Pediatrics
Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04
Variant appearance in text: CFTR: 680T>G; Leu227Arg
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Nature Genetics
Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR