Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.
Lin HH et al.
Molecular Genetics & Genomic Medicine, 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
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
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
An analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.
Cen C et al.
Medicine, 2025
Cystic fibrosis in Vietnam and Southeast Asia: underdiagnosis and genetic spectrum.
Cao-Pham HG et al.
Journal of Community Genetics, 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
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Metabolomic profiling of saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics.
Yıldız CA et al.
Pediatric Pulmonology, 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
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
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Dermine S et al.
Clinics and Research in Hepatology and Gastroenterology, 2024
Biochemical assessment in a cohort of pediatric patients with cystic fibrosis.
Anghel Delia CE et al.
Journal of Medicine and Life, 2024
CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
Angyal D et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 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
One-step NGS molecular analysis of the CFTR gene on newborn dried blood spots gives a higher diagnostic sensitivity in affected and carrier subjects: A pilot study.
Nunziato M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Tracking updates in clinical databases increases efficiency for variant reanalysis.
Li L et al.
Genetics in Medicine Open, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
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
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Terlizzi V et al.
Pediatric Pulmonology, 2023
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
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Terlizzi V et al.
International Journal of Molecular Sciences, 2023
Refinement of newborn screening for cystic fibrosis with next generation sequencing.
Rock MJ et al.
Pediatric Pulmonology, 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
Lipidomic alterations in human saliva from cystic fibrosis patients.
Caterino M et al.
Scientific Reports, 2023