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Preprints
, In silico and functional characterisation of an ultra-rare CFTR mutation identifies novel lasso motif interactions regulating channel gating, http://dx.doi.org/10.1101/2021.12.12.472297
, Incomplete transcriptional dosage compensation of vertebrate sex chromosomes is balanced by post-transcriptional compensation, http://dx.doi.org/10.1101/2023.02.23.529605
, INTEGRATING GENOMIC AND FUNCTIONAL TESTING TO IMPROVE CFTR MODULATOR RESPONSE PREDICTION IN CHILDREN WITH CYSTIC FIBROSIS, http://dx.doi.org/10.1101/2025.07.09.25331152
, Molecular dynamics and theratyping in airway and gut organoids reveal R352Q-CFTR conductance defect, http://dx.doi.org/10.1101/2021.08.11.456003
, Non-linear sequence similarity between the Xist and Rsx long noncoding RNAs suggests shared functions of tandem repeat domains, http://dx.doi.org/10.1101/630475
, Novel antioxidant therapy with the immediate precursor to glutathione, γ-glutamylcysteine (GGC), ameliorates LPS-induced cellular stress in an in vitro cystic fibrosis model, http://dx.doi.org/10.1101/2020.05.27.119990
, Organoid Guided N-of-1 (ORIGIN-1) Clinical Trial: A phase 4 study to investigate if people with cystic fibrosis with rare non-F508del CFTR mutations with an in-vitro response to Elexacaftor/ Tezacaftor/ Ivacaftor have a clinically meaningful response to Elexacaftor/ Tezacaftor/ Ivacaftor versus placebo., http://dx.doi.org/10.21203/rs.3.rs-7787221/v1
, Phage-encoded sRNA counteracts xenogenic silencing in pathogenic E. coli, http://dx.doi.org/10.1101/2025.11.27.690950
, Serum Exosomal Multi-Omic Signatures Stratify Glucose Tolerance in Cystic Fibrosis and Reveal Partial Therapeutic Reprogramming by CFTR Modulators, http://dx.doi.org/10.1101/2025.07.07.25331056
, Significant functional differences despite morphological and molecular similarity in fully differentiated matched Conditionally Reprogrammed (CRC) and Feeder free dual SMAD inhibited expanded human nasal epithelial cells, http://dx.doi.org/10.1101/2020.05.29.120006
, Use of Stem Cell-Derived Cardiomyocyte and Nasal Epithelium Models to Establish a Multi-Tissue Model Platform to Validate Repurposed Drugs Against SARS-CoV-2 Infection, http://dx.doi.org/10.1101/2024.05.22.595397
Other
, 2025, Beyond the present: current and future perspectives on the role of infections in pediatric PCD, http://dx.doi.org/10.3389/fped.2025.1564156