Associated Papers
Rethinking CFTR variant responsiveness: Differential responses to vanzacaftor and elexacaftor.
Rodriguez Mier N et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2025
Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations.
Truitt B et al.
International Journal of Neonatal Screening, 2025
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants.
Sánchez K et al.
The Application of Clinical Genetics, 2016
Approaches to study CFTR pre-mRNA splicing defects.
Goina E et al.
Methods in Molecular Biology (clifton, N.j.), 2011
Analysis of cystic fibrosis gene mutations and associated haplotypes in the Croatian population.
Knezević J et al.
Genetic Testing, 2007
Demographics of the UK cystic fibrosis population: implications for neonatal screening.
McCormick J et al.
European Journal of Human Genetics : Ejhg, 2002
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease.
Porter CD et al.
Human Mutation, 1996
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
Petreska L et al.
Human Mutation, 1996
Two new mutations (1811 + 1G-->C and Y569C) identified in the CFTR gene in patients of Macedonian and Croatian origin.
Petreska L et al.
Acta Medica Croatica : Casopis Hravatske Akademije Medicinskih Znanosti, 1996
[Analysis of 112 haplotypes carrying the cystic fibrosis gene. Applications in genetic counseling].
Parent P et al.
Journal De Genetique Humaine, 1989