F. Vermeulen

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

Peter G. Middleton, Marcus Mall, Pavel Dřevı́nek et al. · New England Journal of Medicine · 2019 · 2K citations · Full text

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

Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Isabelle Meyts, Giorgia Bucciol, Isabella Quinti et al. · Journal of Allergy and Clinical Immunology · 2020 · 358 citations · Full text

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

Isabelle Sermet‐Gaudelus, K. De Boeck, Georges Casimir et al. · American Journal of Respiratory and Critical Care Medicine · 2010 · 240 citations

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

Mieke Boon, Anne Smits, Harry Cuppens et al. · Orphanet Journal of Rare Diseases · 2014 · 127 citations · Full text