Author
Royal Children's HospitalORCID 0000-0003-1597-4759Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
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.
Haloom Rafehi, Liam G. Fearnley, Justin L. Read…·Paul J. Lockhart
This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.
Haloom Rafehi, Justin L. Read, David J. Szmulewicz…·Paul J. Lockhart
This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.