Associated Papers
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 2025
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 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
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
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
L138ins Variant of the CFTR Gene in Russian Infertile Men.
Chernykh V et al.
Genes, 2023
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Rueda-Nieto S et al.
Orphanet Journal of Rare Diseases, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.
Terzic M et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 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
Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees.
Yang B et al.
Molecular Genetics & Genomic Medicine, 2018
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M et al.
Bmc Medical Genomics, 2018
Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.
Giefer MJ et al.
The Journal of Pediatrics, 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014