Associated Papers
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
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.
Rueda-Gaitán P et al.
Frontiers in Pediatrics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.
Sherman CA et al.
Scientific Reports, 2024
Reply to: Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis.
Melotti P et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Real-world impact of ivacaftor in people with cystic fibrosis and select ivacaftor-responsive mutations.
McKinnon C et al.
Bmj Open Respiratory Research, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 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
Patients with cystic fibrosis who could not receive the CFTR modulator treatment: What did they lose in 1 year?
Uytun S et al.
Pediatric Pulmonology, 2023
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Rock MJ 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
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 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
State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.
Meoli A et al.
Pharmaceuticals (basel, Switzerland), 2021
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype.
McGarry ME et al.
Pediatric Pulmonology, 2021
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients.
Rudnik-Schöneborn S et al.
Human Reproduction (oxford, England), 2021
F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients.
Zhang X et al.
Life (basel, Switzerland), 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity.
Rauscher R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.
Prins S et al.
The Journal of Biological Chemistry, 2020
Patients eligible for modulator drugs: Data from cystic fibrosis registry of Turkey.
Çobanoğlu N et al.
Pediatric Pulmonology, 2020
Ivacaftor improves lung disease in patients with advanced CF carrying CFTR mutations that confer residual function.
Salvatore D et al.
Respiratory Medicine, 2020
Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Review for the Otolaryngologist.
Lee SE et al.
American Journal of Rhinology & Allergy, 2020
Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Bienvenu T et al.
Genes, 2020
Trend of sweat chloride values in a cohort of patients carrying CFTR mutations of varying clinical consequence: Is there a risk of increasing sweat chloride over time?
Terlizzi V et al.
Pediatric Pulmonology, 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
Cystic fibrosis precision therapeutics: Emerging considerations.
Joshi D et al.
Pediatric Pulmonology, 2019