Associated Papers
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 2025
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 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
Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR.
Pranke I et al.
Frontiers in Pharmacology, 2025
Impact of the expanded label for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with no F508del variant in the USA.
Cromwell EA et al.
The European Respiratory Journal, 2024
Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
Sun J et al.
Gene, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
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
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Proteomic profiling of sweat in patients with cystic fibrosis provides new insights into epidermal homoeostasis.
Cornet M et al.
Skin Health and Disease, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Triangulating variation in the population to define mechanisms for precision management of genetic disease.
Wang C et al.
Structure (london, England : 1993), 2022
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.
Shen Y et al.
Journal of Medical Genetics, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF.
Li Q et al.
Andrologia, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh K et al.
Bmc Medical Genetics, 2020
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi R et al.
Pediatric Pulmonology, 2020
Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings.
Shen Y et al.
Pediatric Pulmonology, 2020
Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens.
Wang H et al.
Andrology, 2020
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Liu K et al.
Orphanet Journal of Rare Diseases, 2020
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 Impact of the CFTR Gene Discovery on Cystic Fibrosis Diagnosis, Counseling, and Preventive Therapy.
Farrell PM et al.
Genes, 2020
Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.
Billet A et al.
Frontiers in Pharmacology, 2020
c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.
Wang YQ et al.
World Journal of Clinical Cases, 2019
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.
Guo X et al.
Orphanet Journal of Rare Diseases, 2018