Associated Papers
Prevalence, type, and clinical implications of CFTR variants in bronchiectasis.
Gramegna A et al.
Pulmonology, 2026
Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.
Freyberg M et al.
Scientific Reports, 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
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
Mutation characterisation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in people with cystic fibrosis in Northern Ireland.
Blevings PJ et al.
The Ulster Medical Journal, 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 risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children.
Abu-El-Haija M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024
Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.
Sorrentino U 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
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
Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.
Conti J et al.
Children (basel, Switzerland), 2022
Triangulating variation in the population to define mechanisms for precision management of genetic disease.
Wang C et al.
Structure (london, England : 1993), 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
Discovery of CFTR modulators for the treatment of cystic fibrosis.
Lopes-Pacheco M et al.
Expert Opinion on Drug Discovery, 2021
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
Castaldo A et al.
Diagnostics (basel, Switzerland), 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST et al.
Jci Insight, 2018
Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.
Mithraprabhu S et al.
International Journal of Molecular Sciences, 2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Raraigh KS et al.
American Journal of Human Genetics, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Refining the continuum of CFTR-associated disorders in the era of newborn screening.
Levy H et al.
Clinical Genetics, 2016
Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.
Dell'Edera D et al.
Journal of Medical Case Reports, 2014
PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.
Rechitsky S et al.
Reproductive Biomedicine Online, 2013
Genetic prevalence and characteristics in children with recurrent pancreatitis.
Sultan M et al.
Journal of Pediatric Gastroenterology and Nutrition, 2012
Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.
Havasi V et al.
Fertility and Sterility, 2010
A 10-year large-scale cystic fibrosis carrier screening in the Italian population.
Picci L et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010
Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
Schwartz KM et al.
The Journal of Molecular Diagnostics : Jmd, 2009