Neeraj Sharma
Neeraj Sharma
Assistant Professor, McKusick-Nathans Department of Genetic Medicine, Director Primary Cell Core
Verified email at
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Cited by
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
The genetics and genomics of cystic fibrosis.
N Sharma, G Cutting
J Cyst Fibros. pii: S1569-1993(19)30965-8. doi: 10.1016, 2019
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