Associated Papers
Analysis of the Genome Aggregation Database (gnomAD) reveals a global burden of cystic fibrosis and the need for improved diagnosis and care.
Bar L et al.
Ebiomedicine, 2026
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
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
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 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
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
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 2024
TLN468 changes the pattern of tRNA used to read through premature termination codons in CFTR.
Karri S et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 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
Morbidity and treatment costs of cystic fibrosis in a middle-income country.
Hng SY et al.
Singapore Medical Journal, 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
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Mutational Spectrum of the CFTR Gene in the Kazakhstan Population.
Bulegenova M et al.
Indian Pediatrics, 2022
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi R et al.
Pediatric Pulmonology, 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
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
Xie Y et al.
The Clinical Respiratory Journal, 2017
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK et al.
Molecular Genetics & Genomic Medicine, 2017
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin A et al.
Plos One, 2016
Elevated levels of mannan-binding lectin [corrected] (MBL) and eosinophilia in patients of bronchial asthma with allergic rhinitis and allergic bronchopulmonary aspergillosis associate with a novel intronic polymorphism in MBL.
Kaur S et al.
Clinical and Experimental Immunology, 2006
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000