G. Rault

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

Christel Thauvin‐Robinet, À. Munck, Frédéric Huet et al. · Journal of Medical Genetics · 2009 · 126 citations · Full text

Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis

Virginie Scotet, Marc De Braekeleer, Michel Roussey et al. · The Lancet · 2000 · 111 citations

Early Diagnosis, Neonatal Screening, Newborn Screening +8

Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: A 10‐year retrospective study in a French region (Brittany)

Daniel Siret, G. Bretaudeau, B. Branger et al. · Pediatric Pulmonology · 2003 · 93 citations

Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease

D. Hubert, R. Chiron, B. Camara et al. · Journal of Cystic Fibrosis · 2017 · 88 citations

Advanced Lung Disease, Pathology, Pulmonary Fibrosis +3

Impact of the CFTR-Potentiator Ivacaftor on Airway Microbiota in Cystic Fibrosis Patients Carrying A G551D Mutation

Cédric Bernarde, Marlène Keravec, Jérôme Mounier et al. · PLoS ONE · 2015 · 83 citations · Full text