Associated Papers
Genetically engineered approaches to the treatment of cystic fibrosis.
Safrygina AA et al.
Biophysical Reviews, 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
The spectrum of CFTR dysfunction in patients with nontuberculous mycobacterial pulmonary disease.
Lemson A et al.
Respiratory Investigation, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.
Green DM et al.
Pediatrics, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Functional Consequences of CFTR Interactions in Cystic Fibrosis.
Ramananda Y et al.
International Journal of Molecular Sciences, 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
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
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.
Huang L et al.
Pediatric Pulmonology, 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
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
A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.
Coovadia A et al.
Plos One, 2023
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 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
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
Human Molecular Genetics and the long road to treating cystic fibrosis.
Harris A
Human Molecular Genetics, 2021
Antisense oligonucleotide-based drug development for Cystic Fibrosis patients carrying the 3849+10 kb C-to-T splicing mutation.
Oren YS et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2021
Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.
Zampoli M et al.
Erj Open Research, 2021
Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
Álvarez A et al.
Archivos De Bronconeumologia, 2021
On the Corner of Models and Cure: Gene Editing in Cystic Fibrosis.
Ensinck M et al.
Frontiers in Pharmacology, 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
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Whole-Gene Sequencing of CFTR Reveals a High Prevalence of the Intronic Variant c.3874-4522A>G in Cystic Fibrosis.
Morris-Rosendahl DJ et al.
American Journal of Respiratory and Critical Care Medicine, 2020
Identification of CFTR variants in Latino patients with cystic fibrosis from the Dominican Republic and Puerto Rico.
Zeiger AM et al.
Pediatric Pulmonology, 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
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosis.
Clarke LA et al.
Human Mutation, 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
Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.
Pranke I et al.
Frontiers in Pharmacology, 2019
Recent advances in developing therapeutics for cystic fibrosis.
Strug LJ et al.
Human Molecular Genetics, 2018
Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.
Harutyunyan M et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2018
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
Gene delivery to the lungs: pulmonary gene therapy for cystic fibrosis.
Villate-Beitia I et al.
Drug Development and Industrial Pharmacy, 2017
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 improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Girardet A et al.
European Journal of Human Genetics : Ejhg, 2016
Identification and frequencies of cystic fibrosis mutations in central Argentina.
Pepermans X et al.
Clinical Biochemistry, 2016
Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.
Pagin A et al.
Plos One, 2016
Changing incidence of cystic fibrosis in Wisconsin, USA.
Parker-McGill K et al.
Pediatric Pulmonology, 2015
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Bonini J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015