Matthew J. Pellicore

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators

Sangwoo T. Han, András Rab, Matthew J. Pellicore et al. · JCI Insight · 2018 · 100 citations · Full text

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

Allison F. McCague, Karen S. Raraigh, Matthew J. Pellicore et al. · American Journal of Respiratory and Critical Care Medicine · 2019 · 92 citations · Full text

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

Karen S. Raraigh, Sangwoo T. Han, Emily F. Davis-Marcisak et al. · The American Journal of Human Genetics · 2018 · 90 citations · Full text

Allelic Variant, Genotype-phenotype Association, Genetic Disorder +8

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

Melissa Lee, Patrick Roos, Neeraj Sharma et al. · The American Journal of Human Genetics · 2017 · 76 citations · Full text

Sequence Motif, Functional Genomics, Systematic Computational Identification +11

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

Neeraj Sharma, Taylor A. Evans, Matthew J. Pellicore et al. · PLoS Genetics · 2018 · 63 citations · Full text

Fibrosis, Molecular Physiology, Protein Expression +11