Anya T. Joynt

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 · 104 citations · Full text

Medicine, Molecular Biology, Pharmacology +14

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 · 99 citations · Full text

Medicine, Molecular Medicine, Pharmacology +17

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 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Biology +15

Decreased mRNA and protein stability of W1282X limits response to modulator therapy

Melis A. Aksit, Alyssa Bowling, Taylor A. Evans et al. · Journal of Cystic Fibrosis · 2019 · 56 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +15