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
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Bard AM et al.
American Journal of Medical Genetics. Part A, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Bard AM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT et al.
Molecular Therapy. Nucleic Acids, 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
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
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Hughes EE et al.
Human Mutation, 2016
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Diabetes-related mortality in adults with cystic fibrosis. Role of genotype and sex.
Lewis C et al.
American Journal of Respiratory and Critical Care Medicine, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010