Associated Papers
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
FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes.
de Poel E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2023
Redefining Hypo- and Hyper-Responding Phenotypes of CFTR Mutants for Understanding and Therapy.
Hillenaar T et al.
International Journal of Molecular Sciences, 2022
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.
Muilwijk D et al.
The European Respiratory Journal, 2022
35086832 (PubMed )
Supplement: ERJ-00508-2021.Supplement.pdf
Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis.
Berkers G et al.
Cell Reports, 2019
Differences in clinical condition and genotype at time of diagnosis of cystic fibrosis by newborn screening or by symptoms.
Vernooij-van Langen AM et al.
Molecular Genetics and Metabolism, 0
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