Author
The University of SydneyORCID 0000-0002-4527-3710Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
David C. Gordon, Kyrah M. Thumbadoo, Serey Naidoo…·Emma L. Scotter
The paper develops an allele-selective qPCR assay to quantify X-chromosome inactivation in iPSC models of UBQLN2 ALS/FTD and identifies clones retaining XCI for further study.
Alexandra Boyling, Anthony N. Cutrupi, D. Li…·Marina L. Kennerson
The paper identifies a 78-kb insertion in the CMTX3 locus that causes spatiotemporal dysregulation of SOX3 expression in neuronal differentiation.
Ramesh K. Narayanan, Ajay Panwar, Tim J. Butler…·Robyn H. Wallace
This study shows that mutant TDP-43 causes aberrant splicing of Zmynd11 in mice before motor symptoms appear.
Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Pérez‐Siles…·Marina L. Kennerson
The paper identifies a novel gene-intergenic fusion in UBE3C causing dHMN and demonstrates its pathogenic effects using patient-derived models and a C. elegans transgenic system.