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
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name
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
39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1B
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
39529847 (PubMed )
Supplement: Table1.XLSX › Supplement_1
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
37649273 (PubMed )
Supplement: all_supplemental_figures_and_tables_final_ddad143.pdf
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.
Chamayou S et al.
Journal of Assisted Reproduction and Genetics, 2020
Universal strategy for preimplantation genetic testing for cystic fibrosis based on next-generation sequencing.
Chamayou S et al.
Journal of Assisted Reproduction and Genetics, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.
Girardet A et al.
Clinical Genetics, 2015
Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
Sousa M et al.
Plos One, 2012
Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.
Jézéquel P et al.
Molecular Human Reproduction, 2000
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