Associated Papers
Precision A3G base editors for disease modeling and correction.
Zeng H et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.
Tedman A et al.
Elife, 2025
Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.
Bu H et al.
Bmc Pediatrics, 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
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
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
Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators.
Yıldız CA et al.
Pediatric Pulmonology, 2024
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
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
Uncommon Presentation of Cystic Fibrosis: A Case Report and Literature Review.
Abu Sirhan M et al.
Cureus, 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
Clinical, paraclinical, and genetic profile of patients with cystic fibrosis from Colombian Caribbean.
Malambo-García D et al.
Heliyon, 2023
Pharmacologic improvement of CFTR function rapidly decreases sputum pathogen density, but lung infections generally persist.
Nichols DP et al.
The Journal of Clinical Investigation, 2023
Screening by high-throughput sequencing for pathogenic variants in cystic fibrosis: Benefit of introducing personalized therapies.
de Melo ACV et al.
Journal of Cellular and Molecular 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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction.
De Geyter J et al.
Scientific Reports, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.
Cambraia A et al.
Disease Markers, 2021
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
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.
Hernandez-Nieto C et al.
Prenatal Diagnosis, 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
Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.
Atag E et al.
Pediatric Pulmonology, 2019
Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.
Martínez-Hernández A et al.
Bmc Medical Genomics, 2019
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.
de Souza DAS et al.
Andrology, 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
Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.
Behar DM et al.
Molecular Genetics & Genomic 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 impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening.
Stafler P et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 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
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
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas DB et al.
Plos One, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].
Lay-Son R G et al.
Revista Chilena De Pediatria, 2014
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
Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
Raju SV et al.
Respiratory Research, 2014