Author
The University of Western AustraliaORCID 0000-0001-9874-3846Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
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.
David Pellerin, Giulia F. Del Gobbo, Madeline Couse…·Alba Sanchis‐Juan
The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.
Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi…·Ira W. Deveson
This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.