Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Long-term Outcomes of Pediatric CFSPID: A 15-Year Clinical and Genomic Study Across Newborn Screening Cystic Fibrosis Units.
Morales-Tirado A et al.
Archivos De Bronconeumologia, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.
Rafique H et al.
Journal of Computer-aided Molecular Design, 2025
CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis.
Lo Cicero S et al.
Cells, 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
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
Diagnostic Transitions of Cystic Fibrosis and CRMS Compared After 12 Years of Newborn Screening in California.
Sciortino S et al.
The Journal of Pediatrics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
Diagnostic yield of repeat genetic testing in idiopathic chronic pancreatitis.
Dermine S et al.
Clinics and Research in Hepatology and Gastroenterology, 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
The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.
Krasnova M et al.
International Journal of Molecular Sciences, 2023
Hidden CFSPID in CF patient registries? The Italian CF Registry experience.
Terlizzi V et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 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
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Tavano F et al.
Molecular Medicine (cambridge, Mass.), 2023
The burden of cystic fibrosis in North Africa.
El Makhzen N et al.
Frontiers in Genetics, 2023
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Baldassarri M et al.
Cells, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.
Rueda-Nieto S et al.
Orphanet Journal of Rare Diseases, 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
Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.
Mondejar-Lopez P et al.
Respiratory Medicine, 2022
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
Baldassarri M et al.
Journal of Personalized Medicine, 2021
Prenatal Ultrasound Suspicion of Cystic Fibrosis in a Multiethnic Population: Is Extensive CFTR Genotyping Needed?
Mekki C et al.
Genes, 2021
Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.
Pagin A et al.
Andrology, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
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
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Raraigh KS et al.
American Journal of Human Genetics, 2018