Associated Papers
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
Characterizing individuals with elevated sweat chloride results in the absence of CFTR variants.
Bhuiyan I et al.
Orphanet Journal of Rare Diseases, 2025
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
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
Cystic fibrosis in Pakistan: population harbouring rare variants non-responsive to CFTR modulators and the dilemma of poor health facilities.
Safdar A et al.
Molecular Biology Reports, 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
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
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 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
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
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
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
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.
Zampoli M et al.
Erj Open Research, 2021
Elexacaftor-tezacaftor-ivacaftor: The new paradigm to treat people with cystic fibrosis with at least one p.Phe508del mutation.
Gramegna A et al.
Current Opinion in Pharmacology, 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
The CF Canada-Sick Kids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF.
Eckford PDW et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2019
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.
Bosch B et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2017
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM et al.
Pediatric Pulmonology, 2015
Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language?
Ooi CY et al.
Thorax, 2012
Molecular basis of cystic fibrosis disease: an Indian perspective.
Prasad R et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2010
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 and characterization of CFTR gene mutations in Indian CF patients.
Sharma N et al.
Annals of Human Genetics, 2009
The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants.
Mei-Zahav M et al.
Archives of Disease in Childhood, 2005
Demographics of the UK cystic fibrosis population: implications for neonatal screening.
McCormick J et al.
European Journal of Human Genetics : Ejhg, 2002