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
Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.
Journal Of Cellular And Molecular Medicine
de Melo, Ana Cristina Vieira ACV; de Souza, Karla Simone Costa KSC; da Silva, Heglayne Pereira Vital HPV; Maia, Jussara Melo de Cerqueira JMC; Dantas, Vera Maria VM; Bezerra, João Felipe JF; de Rezende, Adriana Augusto AA
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.
Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).
Bmc Pediatrics
Rosa, Joana J; Gaspar-Silva, Patrícia P; Pacheco, Paula P; Silva, Conceição C; Branco, Cláudia C CC; Vieira, Barbara S BS; Carreiro, Alexandra A; Gonçalves, Juan J; Mota-Vieira, Luisa L
Publication Date: 2020-01-03
Variant appearance in text: CFTR: 11C>A; rs397508173
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Beauchamp, Kyle A KA; Johansen Taber, Katherine A KA; Grauman, Peter V PV; Spurka, Lindsay L; Lim-Harashima, Jeraldine J; Svenson, Ashley A; Goldberg, James D JD; Muzzey, Dale D