Associated Papers
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.
De Paolis E et al.
Genes, 2023
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.
Salinas DB et al.
Annals of the American Thoracic Society, 2023
36409994 (PubMed )
Supplement: salinas_data_supplement.pdf
C FTR variants are associated with chronic bronchitis in smokers.
Saferali A et al.
The European Respiratory Journal, 2022
CRMS/CFSPID Subjects Carrying D1152H CFTR Variant: Can the Second Variant Be a Predictor of Disease Development?
Terlizzi V et al.
Diagnostics (basel, Switzerland), 2020
33322690 (PubMed )
Supplement: diagnostics-10-01080-s001.pdf
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Claustres M et al.
Human Mutation, 2017
Codon bias and the folding dynamics of the cystic fibrosis transmembrane conductance regulator.
Bartoszewski R et al.
Cellular & Molecular Biology Letters, 2016
28536625 (PubMed )
Supplement: 11658_2016_25_MOESM2_ESM.xlsx › Sheet2
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene.
Scott A et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
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