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: 1826A>G; His609Arg
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Orphanet Journal Of Rare Diseases
Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA
Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.
Biomed Research International
Paz-Y-Miño, César C; Zambrano, Ana Karina AK; Ruiz-Cabezas, Juan Carlos JC; Armendáriz-Castillo, Isaac I; García-Cárdenas, Jennyfer M JM; Guerrero, Santiago S; López-Cortés, Andrés A; Pérez-Villa, Andy A; Guevara-Ramírez, Patricia P; Yumiceba, Verónica V; Leone, Paola E PE
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
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07
Variant appearance in text: CFTR: 1826A>G; His609Arg
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
Fertility And Sterility
Havasi, Viktoria V; Rowe, Steven M SM; Kolettis, Peter N PN; Dayangac, Didem D; Sahin, Ahmet A; Grangeia, Ana A; Carvalho, Filipa F; Barros, Alberto A; Sousa, Mario M; Bassas, Lluis L; Casals, Teresa T; Sorscher, Eric J EJ
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.
American Journal Of Human Genetics
Groman, Joshua D JD; Hefferon, Timothy W TW; Casals, Teresa T; Bassas, Lluís L; Estivill, Xavier X; Des Georges, Marie M; Guittard, Caroline C; Koudova, Monika M; Fallin, M Daniele MD; Nemeth, Krisztina K; Fekete, Gyorgy G; Kadasi, Ludovit L; Friedman, Ken K; Schwarz, Martin M; Bombieri, Cristina C; Pignatti, Pier Franco PF; Kanavakis, Emmanuel E; Tzetis, Maria M; Schwartz, Marianne M; Novelli, Giuseppe G; D'Apice, Maria Rosaria MR; Sobczynska-Tomaszewska, Agnieszka A; Bal, Jerzy J; Stuhrmann, Manfred M; Macek, Milan M; Claustres, Mireille M; Cutting, Garry R GR