Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Elexacaftor/Tezacaftor/Ivacaftor Supports Treatment for CF with ΔI1023-V1024-CFTR.
Huang Y et al.
International Journal of Molecular Sciences, 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
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Molecular and functional correction of a deep intronic splicing mutation in CFTR by CRISPR-Cas9 gene editing.
Walker AJ et al.
Molecular Therapy. Methods & Clinical Development, 2023
Cystic fibrosis and primary ciliary dyskinesia: Similarities and differences.
Pereira R et al.
Respiratory Medicine, 2023
Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.
Auzenbaha M et al.
Diagnostics (basel, Switzerland), 2022
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
Álvarez A et al.
Archivos De Bronconeumologia, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
Álvarez A et al.
Archivos De Bronconeumologia, 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
Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.
Kerschner JL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients.
Fanous HK et al.
Children (basel, Switzerland), 2018
Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA.
Sanz DJ et al.
Plos One, 2017
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2016
Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening.
Kay DM et al.
Pediatric Pulmonology, 2015