Patrick R. Sosnay

Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial

Harry Heijerman, Edward F. McKone, D.G. Downey et al. · The Lancet · 2019 · 1.4K citations · Full text

Life Sciences, Genetics, Pharmacology +14

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

Philip M. Farrell, Terry B. White, Clement L. Ren et al. · The Journal of Pediatrics · 2017 · 929 citations · Full text

Medicine, Genetics, Pediatrics +16

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

Patrick R. Sosnay, Karen R. Siklosi, Fredrick Van Goor et al. · Nature Genetics · 2013 · 625 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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