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
Profile of cystic fibrosis transmembrane conductance regulator (CFTR) gene variants across India and their variability in different geographic regions.
Chowdhury MR et al.
Gene, 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
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 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
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
A Rare Case of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation on Exon 8 in a Patient Presenting With Recurrent Infections and Failure to Thrive.
Malwade S et al.
Cureus, 2024
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
Waheed N et al.
Molecular Biology Reports, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Spectrum of Cystic Fibrosis Conductance Regulator Gene Mutations Reported in Pakistani Descent Cystic Fibrosis Patients.
Majid H et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
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
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis.
Henderson LB et al.
Plos Genetics, 2012