Suchergebnisse - "Sharma, Neeraj"

PubPharm (9)

1

CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor

enthalten in: JCI insight | 2022

von Raraigh, K. | Paul, K. | Goralski, J. | +18

2

A deep learning approach to identify gene targets of a therapeutic for human splicing disorders

enthalten in: Nature communications | 2021

von Gao, D. | Morini, E. | Salani, M. | +22

3

Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

enthalten in: PLoS genetics | 2020

von Joynt, A. | Evans, T. | Pellicore, M. | +13

4

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

enthalten in: American journal of respiratory and critical care medicine | 2019

von McCague, A. | Raraigh, K. | Pellicore, M. | +15

CommentIn: Am J Respir Crit Care Med. 2019 May 1;199(9):1053-1054. - PMID 30939246

5

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

enthalten in: American journal of human genetics | 2018

von Raraigh, K. | Han, S. | Davis, E. | +10

6

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

enthalten in: American journal of human genetics | 2017

von Lee, M. | Roos, P. | Sharma, N. | +13

7

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants

enthalten in: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | 2016

von Gottschalk, L. | Vecchio-Pagan, B. | Sharma, N. | +6

8

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions

enthalten in: Human mutation | 2014

von Sharma, N. | Sosnay, P. | Ramalho, A. | +10

9

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

enthalten in: Nature genetics | 2013

von Sosnay, P. | Siklosi, K. | Van Goor, F. | +18

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