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
CFTR Exon 10 deleterious mutations in patients with congenital bilateral absence of vas deferens in a cohort of Pakistani patients.
Bakhat K et al.
Archivio Italiano Di Urologia, Andrologia : Organo Ufficiale [di] Societa Italiana Di Ecografia Urologica E Nefrologica, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Lung clearance index in children with cystic fibrosis previously diagnosed with CRMS/CFSPID: A monocentric prospective experience.
Terlizzi V et al.
Pediatric Pulmonology, 2023
Transcriptomic analysis of CFTR-impaired endothelial cells reveals a pro-inflammatory phenotype.
Declercq M et al.
The European Respiratory Journal, 2021
33184117 (PubMed )
Supplement: inline-supplementary-material-2.xlsx › patient_information
Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.
Ramalho AS et al.
The European Respiratory Journal, 2021
Pre-emptive Quality Control of a Misfolded Membrane Protein by Ribosome-Driven Effects.
Lakshminarayan R et al.
Current Biology : Cb, 2020
31956032 (PubMed )
Supplement: mmc2.pdf
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
De Wachter E et al.
Orphanet Journal of Rare Diseases, 2017
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