Author
The University of Western AustraliaORCID 0000-0001-5062-5963Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Thomas M Litster, Robert A. Wilcox, Renée Carroll…·Jozef Gécz
The paper identifies a chimeric CLMN::SYNE3 RNA transcript from a 14q32.13 duplication as the cause of SCA30, a form of cerebellar ataxia, through RNA-Seq and functional studies.
Matt Christopher Danzi, Isaac R. L. Xu, Sarah Fazal…·Stephan L. Zuchner
The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.
Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla…·Gianina Ravenscroft
The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.