Associated Papers
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.
Richter LD et al.
Clinical Genetics, 2025
Theratyping as a tool to guide clinical decision-making in patients with suspected cystic fibrosis and variants currently ineligible for CFTR modulator therapy.
Gannon RM et al.
Respiratory Medicine, 2025
Role of the ADAM33 rs2280091 Variant in Modulating Lung Function in Cystic Fibrosis.
Dos Santos VS et al.
International Journal of Molecular Sciences, 2025
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 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
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
Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.
Donos MA et al.
Journal of Clinical Medicine, 2025
Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.
Oud MS et al.
Andrology, 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
Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.
Prizment A et al.
Human Molecular Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant.
Pastorino C et al.
Plos One, 2025
Phenotypic Evaluation of Rare Cystic Fibrosis Transmembrane Conductance Regulator Mutation Combinations in People with Cystic Fibrosis in Queensland, Australia.
Evans IES et al.
Journal of Clinical Medicine, 2024
Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia).
Ayupova G et al.
Genes, 2024
Cystic Fibrosis: A Journey through Time and Hope.
Trouvé P et al.
International Journal of Molecular Sciences, 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
Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia.
Rafique H et al.
The Journal of Asthma : Official Journal of the Association for the Care of Asthma, 2024
Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
Sun J et al.
Gene, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Genetic surgery for a cystic fibrosis-causing splicing mutation.
Bulcaen M et al.
Molecular Therapy. Methods & Clinical Development, 2024
A novel high-resolution melting analysis strategy for detecting cystic fibrosis-causing variants.
Díez Rodríguez GR et al.
Laboratory Medicine, 2024
Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Kondratyeva E et al.
Frontiers in Genetics, 2024
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.
Huang L et al.
Pediatric Pulmonology, 2023
CFTR-rich ionocytes mediate chloride absorption across airway epithelia.
Lei L et al.
The Journal of Clinical Investigation, 2023
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT et al.
Molecular Therapy. Nucleic Acids, 2023
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.
Makarova M et al.
International Journal of Molecular Sciences, 2023
Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts: Detection of the 50 most common disease-causing variants.
Jeppesen LD et al.
Prenatal Diagnosis, 2023
The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia.
Shum BOV et al.
Prenatal Diagnosis, 2023
Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.
Tümmler B
Frontiers in Pharmacology, 2023
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Baldassarri M et al.
Cells, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 2022
Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.
Sotnikova EA et al.
Journal of Personalized Medicine, 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
One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.
Ensinck MM et al.
Cells, 2022
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients.
Sun Q et al.
Hgg Advances, 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis.
Carneiro GV et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Aquagenic wrinkling in children under two years of age: Could this be a potential clinical referral tool for cystic fibrosis among non-screened populations?
Paul GR et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021