Associated Papers
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Cell Genomics, 2025
41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Cystic fibrosis risk variants confer protection against inflammatory bowel disease.
Yu M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677473 (PubMed )
Supplement: media-1.xlsx › ST3
OrgaSegment: deep-learning based organoid segmentation to quantify CFTR dependent fluid secretion.
Lefferts JW et al.
Communications Biology, 2024
38480810 (PubMed )
Supplement: 42003_2024_5966_MOESM2_ESM.pdf
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
CFTR Function Restoration upon Elexacaftor/Tezacaftor/Ivacaftor Treatment in Patient-Derived Intestinal Organoids with Rare CFTR Genotypes.
Lefferts JW et al.
International Journal of Molecular Sciences, 2023
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
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
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › INHOUSE_CFTR
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