Associated Papers
Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenic CFTR mutation: a retrospective cohort analysis.
Papadakis L et al.
Erj Open Research, 2025
41189580 (PubMed )
Supplement: 00007-2025.SUPPLEMENT.pdf
Real-Life in Cystic Fibrosis Pediatric Patients Treated With Kaftrio: A Descriptive Observational Study.
García Díaz FJ et al.
Clinical Pediatrics, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3
Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.
Harutyunyan M et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2018
Personalized medicine in cystic fibrosis: genistein supplementation as a treatment option for patients with a rare S1045Y-CFTR mutation.
Arora K et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016
Three novel mutations in the CFTR gene identified in Galician patients.
Rana-Díez P et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2008
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