| Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene PR Sosnay, KR Siklosi, F Van Goor, K Kaniecki, H Yu, N Sharma, ... Nature genetics 45 (10), 1160-1167, 2013 | 689 | 2013 |
| Erythrocyte metabolism and antioxidant status of patients with Wilson disease with hemolytic anemia S Attri, N Sharma, S Jahagirdar, BR Thapa, R Prasad Pediatric Research 59 (4), 593-597, 2006 | 87 | 2006 |
| 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 | 85 | 2017 |
| Epidemiology and Genetics of cystic fibrosis in a SIA: in preparation for the Next‐Generation treatments M Singh, C Rebordosa, J Bernholz, N Sharma Respirology 20 (8), 1172-1181, 2015 | 85 | 2015 |
| 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 | 83 | 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 | 82 | 2018 |
| Evaluation of oxidant and antioxidant status in term neonates: a plausible protective role of bilirubin M Shekeeb Shahab, P Kumar, N Sharma, A Narang, R Prasad Molecular and cellular biochemistry 317, 51-59, 2008 | 75 | 2008 |
| 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 | 67 | 2014 |
| UGT1A1 gene polymorphisms in North Indian neonates presenting with unconjugated hyperbilirubinemia SK Agrawal, P Kumar, R Rathi, N Sharma, R Das, R Prasad, A Narang Pediatric research 65 (6), 675-680, 2009 | 67 | 2009 |
| 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 | 54 | 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 | 52 | 2019 |
| Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants LB Gottschalk, B Vecchio-Pagan, N Sharma, ST Han, A Franca, ... Journal of Cystic Fibrosis 15 (3), 285-294, 2016 | 44 | 2016 |
| 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 | 43 | 2016 |
| Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens N Sharma, N Acharya, SK Singh, M Singh, U Sharma, R Prasad Human reproduction 24 (5), 1229-1236, 2009 | 41 | 2009 |
| Identification and characterization of CFTR gene mutations in Indian CF patients N Sharma, M Singh, G Kaur, BR Thapa, R Prasad Annals of human genetics 73 (1), 26-33, 2009 | 38 | 2009 |
| Upregulation of Slc39a10 gene expression in response to thyroid hormones in intestine and kidney K Pawan, S Neeraj, K Sandeep, RK Ratho, P Rajendra Biochimica et Biophysica Acta (BBA)-Gene Structure and Expression 1769 (2 …, 2007 | 38 | 2007 |
| 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 | 36 | 2016 |
| A deep learning approach to identify gene targets of a therapeutic for human splicing disorders D Gao, E Morini, M Salani, AJ Krauson, A Chekuri, N Sharma, ... Nature communications 12 (1), 3332, 2021 | 35 | 2021 |
| 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 | 31 | 2020 |
| The genetics and genomics of cystic fibrosis. N Sharma, G Cutting J Cyst Fibros. pii: S1569-1993(19)30965-8. doi: 10.1016, 2019 | 29 | 2019 |
