Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 2021
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair G et al.
International Journal of Neonatal Screening, 2020
The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al.
European Journal of Human Genetics : Ejhg, 2016
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Bonini J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
Grosu DS et al.
Expert Review of Molecular Diagnostics, 2014
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
Ooi CY et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening.
Baker MW et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2011
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
Green DM et al.
Respiratory Research, 2010
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
ENaCbeta and gamma genes as modifier genes in cystic fibrosis.
Viel M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.
Girardet A et al.
Clinical Genetics, 2007
Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing.
Rock MJ et al.
The Journal of Pediatrics, 2005
High heterogeneity of CFTR mutations and unexpected low incidence of cystic fibrosis in the Mediterranean France.
des Georges M et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2004
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.
Scotet V et al.
Human Mutation, 2003
A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis.
Mickle JE et al.
Human Molecular Genetics, 1998
Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing.
Farrell PM et al.
Wisconsin Medical Journal, 1994
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.
Mercier B et al.
Human Mutation, 1994