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
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 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
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N et al.
Molecular Genetics & Genomic Medicine, 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
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
Gruber A et al.
Clinical Chemistry and Laboratory Medicine, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis.
Straniero L et al.
Journal of Human Genetics, 2016
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ et al.
Human Genetics, 2016
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM et al.
Pediatric Pulmonology, 2015
Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.
Gao X et al.
Biophysical Journal, 2013
Atypical cystic fibrosis and CFTR-related diseases.
Paranjape SM et al.
Clinical Reviews in Allergy & Immunology, 2008
N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel.
Gené GG et al.
Human Mutation, 2008
Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility.
Morea A et al.
Molecular Human Reproduction, 2005
A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male.
Padoan R et al.
Human Mutation, 2000