| The future of cystic fibrosis care: a global perspective SC Bell, MA Mall, H Gutierrez, M Macek, S Madge, JC Davies, PR Burgel, ... The Lancet Respiratory Medicine 8 (1), 65-124, 2020 | 964 | 2020 |
| Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene PR Sosnay, S Karen R, F Van Goor, K Kaniecki, H Yu, N Sharma, ... Nature Genetics 45 (10), 1160-7, 2013 | 723 | 2013 |
| Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis H Corvol, SM Blackman, PY Boëlle, PJ Gallins, RG Pace, JR Stonebraker, ... Nature communications 6 (1), 8382, 2015 | 311 | 2015 |
| Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators ST Han, A Rab, MJ Pellicore, EF Davis, AF McCague, TA Evans, AT Joynt, ... JCI insight 3 (14), 2018 | 103 | 2018 |
| Correlating cystic fibrosis transmembrane conductance regulator function with clinical features to inform precision treatment of cystic fibrosis AF McCague, KS Raraigh, MJ Pellicore, EF Davis-Marcisak, TA Evans, ... American journal of respiratory and critical care medicine 199 (9), 1116-1126, 2019 | 89 | 2019 |
| Functional assays are essential for interpretation of missense variants associated with variable expressivity KS Raraigh, ST Han, E Davis, TA Evans, MJ Pellicore, AF McCague, ... The American Journal of Human Genetics 102 (6), 1062-1077, 2018 | 87 | 2018 |
| Systematic computational identification of variants that activate exonic and intronic cryptic splice sites M Lee, P Roos, N Sharma, M Atalar, TA Evans, MJ Pellicore, E Davis, ... The American Journal of Human Genetics 100 (5), 751-765, 2017 | 86 | 2017 |
| Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses PR Sosnay, DB Salinas, TB White, CL Ren, PM Farrell, KS Raraigh, ... The Journal of Pediatrics 181, S27-S32. e1, 2017 | 82 | 2017 |
| Sources of variation in sweat chloride measurements in cystic fibrosis JM Collaco, SM Blackman, KS Raraigh, H Corvol, JM Rommens, ... American journal of respiratory and critical care medicine 194 (11), 1375-1382, 2016 | 79 | 2016 |
| Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions N Sharma, PR Sosnay, AS Ramalho, C Douville, A Franca, LB Gottschalk, ... Human mutation 35 (10), 1249-1259, 2014 | 72 | 2014 |
| Molecular genetics of cystic fibrosis transmembrane conductance regulator: genotype and phenotype PR Sosnay, KS Raraigh, RL Gibson Pediatric Clinics 63 (4), 585-598, 2016 | 67 | 2016 |
| Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis N Sharma, TA Evans, MJ Pellicore, E Davis, MA Aksit, AF McCague, ... PLoS genetics 14 (11), e1007723, 2018 | 62 | 2018 |
| Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis KW Southern, C Castellani, E Lammertyn, A Smyth, D VanDevanter, ... Journal of Cystic Fibrosis 22 (1), 17-30, 2023 | 53 | 2023 |
| Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits MA Aksit, RG Pace, B Vecchio-Pagán, H Ling, JM Rommens, PY Boelle, ... The Journal of Clinical Endocrinology & Metabolism 105 (5), 1401-1415, 2020 | 52 | 2020 |
| Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings AL Bergner, J Bollinger, KS Raraigh, C Tichnell, B Murray, CL Blout, ... American Journal of Medical Genetics Part A 164 (11), 2745-2752, 2014 | 47 | 2014 |
| Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease M Lee, B Vecchio-Pagán, N Sharma, A Waheed, X Li, KS Raraigh, ... Human molecular genetics 25 (10), 1923-1933, 2016 | 45 | 2016 |
| Benign and deleterious cystic fibrosis transmembrane conductance regulator mutations identified by sequencing in positive cystic fibrosis newborn screen children from California DB Salinas, PR Sosnay, C Azen, S Young, KS Raraigh, TG Keens, ... PLoS One 11 (5), e0155624, 2016 | 43 | 2016 |
| Development, validation, and implementation of a questionnaire assessing disease knowledge and understanding in adult cystic fibrosis patients KR Siklosi, CG Gallagher, EF McKone Journal of Cystic Fibrosis 9 (6), 400-5, 2010 | 39 | 2010 |
| Ethnicity impacts the cystic fibrosis diagnosis: a note of caution B Bosch, D Bilton, P Sosnay, KS Raraigh, DYF Mak, H Ishiguro, ... Journal of Cystic Fibrosis 16 (4), 488-491, 2017 | 38 | 2017 |
| Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits B Vecchio-Pagán, SM Blackman, M Lee, M Atalar, MJ Pellicore, RG Pace, ... Human genome variation 3 (1), 1-9, 2016 | 37 | 2016 |
