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
Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.
Chandane P et al.
Lung India : Official Organ of Indian Chest Society, 2025
Whole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft.
Zhao H et al.
Protein & Cell, 2024
CFTR mutations and phenotypic correlations in people with cystic fibrosis: a retrospective study from a single centre in south India.
Varkki SD et al.
The Lancet Regional Health. Southeast Asia, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 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
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 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
Quantitative Evaluation of CFTR Pre-mRNA Splicing Dependent on the (TG)mTn Poly-Variant Tract.
Sterrantino M et al.
Diagnostics (basel, Switzerland), 2021
The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine.
Januska MN et al.
Journal of Genetic Counseling, 2020
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
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.
Clarke LA et al.
Human Mutation, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
A rare CFTR mutation associated with severe disease progression in a 10-year-old Hispanic patient.
Soe K et al.
Clinical Case Reports, 2017
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D et al.
Molecular Genetics & Genomic Medicine, 2015
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM et al.
Pediatric Pulmonology, 2015
A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.
Lucarelli M et al.
Molecular Medicine (cambridge, Mass.), 2015
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
Alper OM et al.
Human Mutation, 2004