| 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 | 95 | 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 | 83 | 2017 |
| 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 | 81 | 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 | 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 | 53 | 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 |
| 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 | 40 | 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 | 29 | 2020 |
| 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 |
| Retroelement-derived RNA and its role in the brain TA Evans, JA Erwin Seminars in Cell & Developmental Biology 114, 68-80, 2021 | 12 | 2021 |
| Potentially lethal cystic fibrosis gene variant in the orangutan SN Taylor-Cousar JL, Evans TA, Cutting GR American Journal of Primatology, 2020 | 3* | 2020 |
| Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia … L D’ignazio, RS Jacomini, B Qamar, KJM Benjamin, R Arora, T Sawada, ... Eneuro 9 (4), 2022 | | 2022 |
| THERATYPING RARE AND COMMON CFTR MISSENSE VARIANTS BASED ON RESIDUAL FUNCTION AND PHENOTYPE KS Raraigh, ST Han, A Rab, P Matthew, TA Evans, E Davis, A McCague, ... PEDIATRIC PULMONOLOGY 53, 262-263, 2018 | | 2018 |
| THERATYPING OF CFTR SPLICING VARIANTS N Sharma, TA Evans, A Joynt, E Davis, M Pellicore, M Atalar, Z Lu, ... PEDIATRIC PULMONOLOGY 53, 204-204, 2018 | | 2018 |
| WS17. 3 Functional characterisation and CFTR2 disease liability assignment of 48 missense variants KS Raraigh, S Han, E Davis, T Evans, M Pellicore, A Mccague, A Joynt, ... Journal of Cystic Fibrosis 17, S31-S32, 2018 | | 2018 |
| FUNCTIONAL ASSESSMENT OF ULTRA RARE CFTR MISSENSE VARIANTS IN HUMAN AIRWAY CELLS INFORMS DISEASE LIABILITY AND DRUG THERAPY ST Han, A McCague, M Atalar, M Pellicore, E Davis, TA Evans, N Sharma, ... PEDIATRIC PULMONOLOGY 52, S266-S266, 2017 | | 2017 |
| CFTR TARGETED THERAPY FOR A SUBSET OF SPLICE-SITE AND NONSENSE VARIANTS THAT ALLOW PROTEIN PRODUCTION N Sharma, TA Evans, M Pellicore, E Davis, ST Han, A McCague, A Joynt, ... PEDIATRIC PULMONOLOGY 52, S262-S262, 2017 | | 2017 |
| IDENTIFICATION OF A LOSS OF FUNCTION CFTR VARIANT IN ORANGUTANS TA Evans, N Sharma, E Davis, A Joynt, GR Cutting, JL Taylor-Cousar PEDIATRIC PULMONOLOGY 52, S269-S269, 2017 | | 2017 |
| Ion Channels and Transporters in Lung Function and Disease: 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 | | 2016 |
| NMD INHIBITION IMPROVES THE OUTCOME OF CORRECTOR AND POTENTIATOR TREATMENTS FOR THE NONSENSE MUTATIONS EXPRESSING COMPLEX GLYCOSYLATED TRUNCATED PROTEIN N Sharma, M Pellicore, T Evans, E Davis, A McCague, ST Han, ... PEDIATRIC PULMONOLOGY 51, 293-293, 2016 | | 2016 |
Matthew PellicoreGraduate Research Assistant, Columbia UniversityVerified email at columbia.edu
