Authorship
Study was designed by J.A. Veltman and G.S. Holt. G.S. Holt performed primer design, some primer optimisation, ONT sequencing, bioinformatics, data analysis, manuscript curation. L. Batty performed primer optimisation, ONT sequencing and DNM Sanger validation. B. Alobaidi performed DNA extractions, WES sample prep, some PCR optimising, some ONT sequencing, and DNM Sanger validation. H. Smith performed DNM selection and disease causative classifications of DNMs. M.S. Oud performed DNM selection, manuscript review and disease causative classification of DNMs. L. Ramos provided clinical data. M.J. Xavier performed DNM identification in WES data and manuscript review. J.A. Veltman manuscript review. All authors contributed to the final paper.