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
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.
Barr E et al.
International Journal of Neonatal Screening, 2025
General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.
Tedman A et al.
Biorxiv : the Preprint Server for Biology, 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
Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries.
Lee E et al.
Journal of Medical Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Impact of the expanded label for elexacaftor/tezacaftor/ivacaftor in people with cystic fibrosis with no F508del variant in the USA.
Cromwell EA et al.
The European Respiratory Journal, 2024
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Hall B et al.
Archives of Pathology & Laboratory 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
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.
Ward A et al.
Human Mutation, 2024
Gradual increase in sweat chloride concentration is associated with a higher risk of CRMS/CFSPID to CF reclassification.
Salinas DB et al.
Pediatric Pulmonology, 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
Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.
Gunnett MA et al.
Frontiers in Pediatrics, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Elexacaftor/tezacaftor/ivacaftor for CFTR variants giving rise to diagnostic uncertainty: Personalised medicine or over-medicalisation?
Salvatore D et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Clinical and molecular characterization of the R751L-CFTR mutation.
Haq IJ et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Westemeyer M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.
Pereira SV et al.
Scientific Reports, 2019
Interaction among variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1, and SLC9A3) and CFTR mutations with clinical markers of cystic fibrosis.
Pereira SVN et al.
Pediatric Pulmonology, 2018
Detection of CFTR function and modulation in primary human nasal cell spheroids.
Brewington JJ et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2018
Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes.
Marson FAL et al.
Pancreas, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Nasospheroids permit measurements of CFTR-dependent fluid transport.
Guimbellot JS et al.
Jci Insight, 2017
Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3).
Pereira SV et al.
Gene, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Thirty Years of Sweat Chloride Testing at One Referral Center.
Faria AG et al.
Frontiers in Pediatrics, 2017
IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.
Furlan LL et al.
Human Genetics, 2016
Polymorphisms in the glutathione pathway modulate cystic fibrosis severity: a cross-sectional study.
Marson FA et al.
Bmc Medical Genetics, 2014
Genetic interaction of GSH metabolic pathway genes in cystic fibrosis.
de Lima Marson FA et al.
Bmc Medical Genetics, 2013
Polymorphisms in ADRB2 gene can modulate the response to bronchodilators and the severity of cystic fibrosis.
Marson FA et al.
Bmc Pulmonary Medicine, 2012