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
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
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
Severe lung disease in children with cystic fibrosis missed in newborn screening.
Baldwin K et al.
Pediatric Pulmonology, 2024
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
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Nykamp K et al.
Human Mutation, 2021
K162E - A rare and uncategorized CFTR variant causing cystic fibrosis.
Souza EL et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.
Mota LR et al.
Molecular Biology Reports, 2018
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.
Norris EJ et al.
Gynecologic Oncology Reports, 2018
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
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
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
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
Sosnay PR et al.
Nature Genetics, 2013
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
Prach L et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
Berwouts S et al.
Human Mutation, 2011
Cystic fibrosis carrier testing in an ethnically diverse US population.
Rohlfs EM et al.
Clinical Chemistry, 2011
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
Farkas DH et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.
Hendrix MM et al.
Journal of Inborn Errors of Metabolism and Screening, 0