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
40932846 (PubMed )
Supplement: mmc2.xlsx › EXCEPTIONAL
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1B
Use of adenine base editing and homology-independent targeted integration strategies to correct the cystic fibrosis causing variant, W1282X.
Mention K et al.
Human Molecular Genetics, 2023
37649273 (PubMed )
Supplement: all_supplemental_figures_and_tables_final_ddad143.pdf
Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.
Huang L et al.
Pediatric Pulmonology, 2023
Protospacer modification improves base editing of a canonical splice site variant and recovery of CFTR function in human airway epithelial cells.
Joynt AT et al.
Molecular Therapy. Nucleic Acids, 2023
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 2022
35650428 (PubMed )
Supplement: 41434_2022_347_MOESM1_ESM.pdf
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.
Sicko RJ et al.
International Journal of Neonatal Screening, 2021
34842611 (PubMed )
Supplement: IJNS-07-00073-s001.zip › Sicko_et_al__NYS_CF_NGS_Panel_Supplemental_Table_S2.pdf
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
30321405 (PubMed )
Supplement: gky979_supplemental_files.zip › Corrigendum_supplementary_table.xlsx › AllData
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R et al.
Nucleic Acids Research, 2018
29750258 (PubMed )
Supplement: gky372_supplemental_files.zip › SPiCE_table_supp.R2.xlsx › Table_S3
Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
Ivanov M et al.
Bmc Medical Genomics, 2018
CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.
Ziętkiewicz E et al.
Plos One, 2014
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
20059485 (PubMed )
Supplement: supplement_1.pdf
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