Rapid Improvement after Starting Elexacaftor–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease

Pierre‐Régis Burgel, I. Durieu, R. Chiron, +222

American Journal of Respiratory and Critical Care Medicine

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin, +16

The American Journal of Human Genetics

Developmental BiologyPathologyOuter Dynein ArmsCytoskeletonLoss-of-function Mutations +3

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin, +27

The American Journal of Human Genetics

Radial-spoke DefectsPathologyLoss-of-function MutationsNeuropathologyMedicine +1

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali Patel, Amelia Shoemark, +39

Nature Communications

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Jean‐François Papon, A. Coste, Françoise Roudot‐Thoraval, +6

European Respiratory Journal

Suspected PcdAllergyTransmission Electron MicroscopyElectron MicroscopyMedicine +12

Real-Life Safety and Effectiveness of Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis

Pierre‐Régis Burgel, À. Munck, I. Durieu, +145

American Journal of Respiratory and Critical Care Medicine

Otologic Features in Children With Primary Ciliary Dyskinesia

V. Prulière‐Escabasse, A. Coste, Pierre Chauvin, +5

Archives of Otolaryngology - Head and Neck Surgery

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Ludovic Jeanson, Bruno Copin, Jean‐François Papon, +18

The American Journal of Human Genetics

Near AbsencePathologyRadial SpokesCentral-complex Defects

Clinical Changes of Patients with Cystic Fibrosis during Transition from Pediatric to Adult Care

I. Duguépéroux, Aline Tamalet, Isabelle Sermet‐Gaudelus, +4

Journal of Adolescent Health

Adult CarePediatricsPediatric Lung DiseasePediatric GastroenterologyClinical Changes

Delineation of <i>CCDC39/CCDC40</i> mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Sylvain Blanchon, Marie Legendre, Bruno Copin, +24

Journal of Medical Genetics