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
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
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
Investigating adverse genomic and regulatory changes caused by replacement of the full-length CFTR cDNA using Cas9 and AAV.
Vaidyanathan S et al.
Molecular Therapy. Nucleic Acids, 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
The French compassionate programme of elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with advanced lung disease and no F508del CFTR variant.
Burgel PR et al.
The European Respiratory Journal, 2023
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.
Wong SL et al.
Iscience, 2022
Exon-skipping antisense oligonucleotides for cystic fibrosis therapy.
Kim YJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review.
Alibakhshi R et al.
Pediatric Pulmonology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 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
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 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
Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.
Savarese M et al.
Ophthalmic Genetics, 2014
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
Ladsous M et al.
Thyroid : Official Journal of the American Thyroid Association, 2014
Mutation analysis of the CFTR gene in 225 children: identification of five novel severe and seven reported severe mutations.
Sachdeva K et al.
Genetic Testing and Molecular Biomarkers, 2012
Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.
Chen N et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
Urzúa B et al.
Biochemical Genetics, 2011
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
Frédéric MY et al.
Human Mutation, 2009
Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.
Ramalho AS et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2009
A haplotype framework for cystic fibrosis mutations in Iran.
Elahi E et al.
The Journal of Molecular Diagnostics : Jmd, 2006
Spectrum of CFTR mutations on Réunion Island: impact on neonatal screening.
Bienvenu T et al.
Human Biology, 2005
Clinical characterization of patients with idiopathic chronic pancreatitis and SPINK1 Mutations.
Schneider A et al.
Scandinavian Journal of Gastroenterology, 2004
Genetic testing in chronic pancreatitis.
Tazelaar JP et al.
Expert Review of Molecular Diagnostics, 2003
Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis.
Perri F et al.
European Journal of Human Genetics : Ejhg, 2003
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
Drenth JP et al.
Gut, 2002
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Witt H et al.
Nature Genetics, 2000
Abstracts of the 32nd european pancreatic club meeting
Folsch UR et al.
Digestion, 2000
CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?
Gaitch N et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 0
[Pendred syndrome and nonsyndromic related deafness: a same entity?].
Wemeau JL et al.
Bulletin De L'academie Nationale De Medecine, 0
Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases.
Michels M et al.
Genetics and Molecular Biology, 0