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 · 1.3K citations · Full text

Mendelian Disorder, Genetics, Ivacaftor Combination Regimen +2

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 · 897 citations · Full text

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 · 613 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +12

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

Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients

Deanna Green, Kathryn E. McDougal, Scott M. Blackman et al. · Respiratory Research · 2010 · 91 citations · Full text