Associated Papers
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
Evaluating Georgia's Cystic Fibrosis Newborn Screening Algorithm to Inform Improvement Recommendations.
Truitt B et al.
International Journal of Neonatal Screening, 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
Vanzacaftor-tezacaftor-deutivacaftor versus elexacaftor-tezacaftor-ivacaftor in individuals with cystic fibrosis aged 12 years and older (SKYLINE Trials VX20-121-102 and VX20-121-103): results from two randomised, active-controlled, phase 3 trials.
Keating C et al.
The Lancet. Respiratory Medicine, 2025
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
A Retrospective, Longitudinal Registry Study on the Long-Term Durability of Ivacaftor Treatment in People with Cystic Fibrosis.
Merlo C et al.
Pulmonary Therapy, 2024
Improved detection of cystic fibrosis by the California Newborn Screening Program for all races and ethnicities.
McGarry ME et al.
Pediatric Pulmonology, 2024
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Hall B et al.
Archives of Pathology & Laboratory Medicine, 2024
Long-term impact of ivacaftor on mortality rate and health outcomes in people with cystic fibrosis.
Merlo CA et al.
Thorax, 2024
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 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
CFTR gene variants, air pollution, and childhood asthma in a California Medicaid population.
Thilakaratne R et al.
Pediatric Pulmonology, 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
Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.
Bresnick K et al.
Bmj Open Respiratory Research, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Cystic fibrosis patients of minority race and ethnicity less likely eligible for CFTR modulators based on CFTR genotype.
McGarry ME et al.
Pediatric Pulmonology, 2021
Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.
Fedder J et al.
Andrology, 2021
Genetics of CFTR and male infertility.
Bieniek JM et al.
Translational Andrology and Urology, 2021
The CFTR variant profile of Hispanic patients with cystic fibrosis: Impact on access to effective screening, diagnosis, and personalized medicine.
Januska MN et al.
Journal of Genetic Counseling, 2020
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair G et al.
International Journal of Neonatal Screening, 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
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
Orkambi® and amplifier co-therapy improves function from a rare CFTR mutation in gene-edited cells and patient tissue.
Molinski SV et al.
Embo Molecular Medicine, 2017
Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.
Salinas DB et al.
Genetic Testing and Molecular Biomarkers, 2016
Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.
Sontag MK et al.
The Journal of Pediatrics, 2016
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
Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Screening for cystic fibrosis in New York State: considerations for algorithm improvements.
Kay DM et al.
European Journal of Pediatrics, 2016
Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
Hughes EE et al.
Human Mutation, 2016
Molecular Diagnosis of Cystic Fibrosis.
Deignan JL et al.
Current Protocols in Human Genetics, 2016
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
Assessing the improvements in the newborn screening strategy for cystic fibrosis in the Balearic Islands.
Bauça JM et al.
Clinical Biochemistry, 2015
Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
Grosu DS et al.
Expert Review of Molecular Diagnostics, 2014
The need for salt: does a relationship exist between cystic fibrosis and exercise-associated hyponatremia?
Lewis DP et al.
Journal of Strength and Conditioning Research, 2014
Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
Raju SV et al.
Respiratory Research, 2014
Cigarette smoke induces systemic defects in cystic fibrosis transmembrane conductance regulator function.
Raju SV et al.
American Journal of Respiratory and Critical Care Medicine, 2013
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Genetic testing of sperm donors for cystic fibrosis and spinal muscular atrophy: evaluation of clinical utility.
Landaburu I et al.
European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2013
Hispanic Infants with cystic fibrosis show low CFTR mutation detection rates in the Illinois newborn screening program.
Watts KD et al.
Journal of Genetic Counseling, 2012
Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis.
Ooi CY et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome.
Ren CL et al.
Pediatric Pulmonology, 2011
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S et al.
Human Mutation, 2011