Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes.
Marson FAL et al.
Pancreas, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
Thirty Years of Sweat Chloride Testing at One Referral Center.
Faria AG et al.
Frontiers in Pediatrics, 2017
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
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 first FDA marketing authorizations of next-generation sequencing technology and tests: challenges, solutions and impact for future assays.
Bijwaard K et al.
Expert Review of Molecular Diagnostics, 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
CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?
Rosendahl J et al.
Gut, 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
Newborn screening for cystic fibrosis in Alberta: Two years of experience.
Lilley M et al.
Paediatrics & Child Health, 2010
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
Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.
Chandrasekharan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.
Bickmann JK et al.
Clinical Chemistry, 2009
Identification of cystic fibrosis variants by polymerase chain reaction/oligonucleotide ligation assay.
Schwartz KM et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Development of genomic reference materials for cystic fibrosis genetic testing.
Pratt VM et al.
The Journal of Molecular Diagnostics : Jmd, 2009
A novel computational and structural analysis of nsSNPs in CFTR gene.
George Priya Doss C et al.
Genomic Medicine, 2008
A comparative study of five technologically diverse CFTR testing platforms.
Johnson MA et al.
The Journal of Molecular Diagnostics : Jmd, 2007
A universal array-based multiplexed test for cystic fibrosis carrier screening.
Amos JA et al.
Expert Review of Molecular Diagnostics, 2006
Lack of association of common cystic fibrosis transmembrane conductance regulator gene mutations with primary sclerosing cholangitis.
Gallegos-Orozco JF et al.
The American Journal of Gastroenterology, 2005
Rapid screening for 31 mutations and polymorphisms in the cystic fibrosis transmembrane conductance regulator gene by Lminex xMAP suspension array.
Dunbar SA et al.
Methods in Molecular Medicine, 2005
Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.
Comeau AM et al.
Pediatrics, 2004
Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting.
Strom CM et al.
Clinical Chemistry, 2004
Current challenges in cystic fibrosis screening.
Lyon E et al.
Archives of Pathology & Laboratory Medicine, 2003
Survey of CF mutations in the clinical laboratory.
Huber K et al.
Bmc Clinical Pathology, 2002
Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Wang X et al.
Clinical Chemistry, 2002
Molecular diagnosis of cystic fibrosis.
Shrimpton AE
Expert Review of Molecular Diagnostics, 2002
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population.
Wang X et al.
Jama, 2000
Modeling of nucleotide binding domains of ABC transporter proteins based on a F1-ATPase/recA topology: structural model of the nucleotide binding domains of the cystic fibrosis transmembrane conductance regulator (CFTR).
Bianchet MA et al.
Journal of Bioenergetics and Biomembranes, 1997
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.
DeMarchi JM et al.
Human Mutation, 1994
Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.
Heim RA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.
Strom CM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation.
Buyse IM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.
Edelmann L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis.
Marson FA et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0
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
Variants in the interleukin 8 gene and the response to inhaled bronchodilators in cystic fibrosis.
Furlan LL et al.
Jornal De Pediatria, 0