Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Chernykh V et al.
International Journal of Molecular Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Petrova NV et al.
Clinical Genetics, 2019
Personalised CFTR pharmacotherapeutic response testing and therapy of cystic fibrosis.
McCarthy C et al.
The European Respiratory Journal, 2018
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M et al.
Bmc Medical Genomics, 2018
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
Identification of a novel, CF-causing compound genotype (p.S1159P and p.Y569H) using an NGS-based assay: Novel CF-causing compound p.S1159P and p.Y569H genotype.
Simakova T et al.
Gene, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Association of CFTR gene mutation with bronchial asthma.
Maurya N et al.
The Indian Journal of Medical Research, 2012
Approaches to study CFTR pre-mRNA splicing defects.
Goina E et al.
Methods in Molecular Biology (clifton, N.j.), 2011
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
Morral N et al.
Human Mutation, 1996