| 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 | 83 | 2017 |
| 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 | 80 | 2018 |
| 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 | 55 | 2018 |
| Decreased mRNA and protein stability of W1282X limits response to modulator therapy MA Aksit, AD Bowling, TA Evans, AT Joynt, D Osorio, S Patel, N West, ... Journal of Cystic Fibrosis 18 (5), 606-613, 2019 | 50 | 2019 |
| 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), dgz102, 2020 | 47 | 2020 |
| Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis ATN Lam, MA Aksit, B Vecchio-Pagan, CA Shelton, DL Osorio, ... The Journal of clinical investigation 130 (1), 272-286, 2020 | 43 | 2020 |
| 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 | 34 | 2016 |
| Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies AT Joynt, TA Evans, MJ Pellicore, EF Davis-Marcisak, MA Aksit, ... PLoS genetics 16 (10), e1009100, 2020 | 30 | 2020 |
| Integrated Transcriptomic and Proteomic Analysis of Human Eccrine Sweat Glands Identifies Missing and Novel Proteins*[S] CH Na, N Sharma, AK Madugundu, R Chen, MA Aksit, GD Rosson, ... Molecular & Cellular Proteomics 18 (7), 1382-1395, 2019 | 26 | 2019 |
| Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment KS Raraigh, MA Aksit, K Hetrick, RG Pace, H Ling, W O'Neal, E Blue, ... Journal of Cystic Fibrosis 21 (3), 463-470, 2022 | 21 | 2022 |
| A sequence upstream of canonical PDZ-binding motif within CFTR COOH-terminus enhances NHERF1 interaction N Sharma, J LaRusch, PR Sosnay, LB Gottschalk, AP Lopez, MJ Pellicore, ... American Journal of Physiology-Lung Cellular and Molecular Physiology 311 (6 …, 2016 | 15 | 2016 |
| SLC26A9 SNP rs7512462 is not associated with lung disease severity or lung function response to ivacaftor in cystic fibrosis patients with G551D-CFTR AC Eastman, RG Pace, H Dang, MA Aksit, B Vecchio-Pagán, ATN Lam, ... Journal of Cystic Fibrosis 20 (5), 851-856, 2021 | 13 | 2021 |
| Genetic modifiers of cystic fibrosis lung disease severity: whole-genome analysis of 7,840 patients YH Zhou, PJ Gallins, RG Pace, H Dang, MA Aksit, EE Blue, ... American journal of respiratory and critical care medicine 207 (10), 1324-1333, 2023 | 9 | 2023 |
| CFTR bearing variant p. Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor KS Raraigh, KC Paul, JL Goralski, EN Worthington, AV Faino, S Sciortino, ... JCI insight 7 (6), 2022 | 8 | 2022 |
| Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis MA Aksit, H Ling, RG Pace, KS Raraigh, F Onchiri, AV Faino, K Pagel, ... The American Journal of Human Genetics 109 (10), 1894-1908, 2022 | 7 | 2022 |
| Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis NM Dalesio, MA Aksit, K Ahn, KS Raraigh, JM Collaco, ... International forum of allergy & rhinology 10 (6), 748-754, 2020 | 7 | 2020 |
| Acquired cystic fibrosis transmembrane conductance regulator dysfunction and radiographic bronchiectasis in current and former smokers: a cross-sectional study K Teerapuncharoen, JM Wells, SV Raju, KS Raraigh, M Atalar Aksit, ... Annals of the American Thoracic Society 16 (1), 150-153, 2019 | 7 | 2019 |
| Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits. Hum Genome Var. 2016; 3: 16038 B Vecchio-Pagan, SM Blackman, M Lee, M Atalar, MJ Pellicore, RG Pace Figure, 2016 | 7 | 2016 |
| Comparing encounter-based and annualized chronic pseudomonas infection definitions in cystic fibrosis M Rosenfeld, AV Faino, F Onchiri, MA Aksit, SM Blackman, EE Blue, ... Journal of Cystic Fibrosis 21 (1), 40-44, 2022 | 5 | 2022 |
| Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor MA Aksit, B Yu, BAJ Roelen, BR Migeon European Journal of Human Genetics, 1-8, 2022 | 4 | 2022 |
Neeraj SharmaAssistant Professor, McKusick-Nathans Department of Genetic Medicine, Director Primary Cell CoreVerified email at jh.edu
