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
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
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 2024
Biochemical assessment in a cohort of pediatric patients with cystic fibrosis.
Anghel Delia CE et al.
Journal of Medicine and Life, 2024
Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
Sun J et al.
Gene, 2024
[Cystic fibrosis primarily presenting with pseudo-Bartter syndrome: a report of three cases and literature review].
Zhang JY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024
Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children.
Han Y et al.
Heliyon, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.
Wang M et al.
Journal of Assisted Reproduction and Genetics, 2024
A Chinese pediatric cystic fibrosis patient with the c.1624G>T, p. Gly542x/c.223C>T, p. Arg75x genotype.
Zhang R et al.
Pediatric Pulmonology, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.
Wagner RN et al.
International Journal of Molecular Sciences, 2023
Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH et al.
Scientific Reports, 2023
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Qu X et al.
Scientific Reports, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.
Bowling A et al.
Journal of Personalized Medicine, 2022
Multicenter Surveillance of Cystic Fibrosis in Korean Children.
Kim HY et al.
Allergy, Asthma & Immunology Research, 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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.
Zou C et al.
Bmc Urology, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease.
Park H et al.
Translational Pediatrics, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
Pseudo-Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings.
Shen Y et al.
Pediatric Pulmonology, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.
Sugunaraj JP et al.
Npj Genomic Medicine, 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
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N et al.
Plos Genetics, 2018
Four case reports of Chinese cystic fibrosis patients and literature review.
Xu J et al.
Pediatric Pulmonology, 2017
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
Zheng B et al.
Pediatric Pulmonology, 2017
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK et al.
Molecular Genetics & Genomic Medicine, 2017
Clinical Phenotypes and Genotypic Spectrum of Cystic Fibrosis in Chinese Children.
Shen Y et al.
The Journal of Pediatrics, 2016
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Tian X et al.
Human Genome Variation, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.
Liu Y et al.
Respirology (carlton, Vic.), 2015