Associated Papers
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
Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.
Ramalho AS et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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
The cystic fibrosis gene: a molecular genetic perspective.
Tsui LC et al.
Cold Spring Harbor Perspectives in Medicine, 2013
Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.
Castellani C et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
Cystic fibrosis gene variability in two southern Brazilian Amerindian populations: analysis of the deltaF508 mutation and the KM19 and XV2C haplotypes.
Raskin S et al.
Human Biology, 2007
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Structure of nucleotide-binding domain 1 of the cystic fibrosis transmembrane conductance regulator.
Lewis HA et al.
The Embo Journal, 2004
Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
Aznarez I et al.
Human Molecular Genetics, 2003
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Bobadilla JL et al.
Human Mutation, 2002
Genetic polymorphism and American Indian health.
Long JC et al.
The Western Journal of Medicine, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi JY et al.
Nature, 2001
Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin.
Yee K et al.
Human Mutation, 2000
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A et al.
Human Molecular Genetics, 1998
A novel model for the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.
Annereau JP et al.
Febs Letters, 1997
Complete detection of mutations in cystic fibrosis patients of Native American origin.
Mercier B et al.
Human Genetics, 1994
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
Gasparini P et al.
Human Mutation, 1993