Author
University of California, Los AngelesORCID 0000-0002-7208-2418Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Mert Koka, Hui Li, Rumana Akther…·Vijayendran Chandran
This study identifies TUG1 as a blood-based biomarker for Friedreich's ataxia, showing its downregulation in patients and correlation with disease severity.
Dona Aboud Syriani, Darice Y. Wong, Sameer Andani…·Brent L. Fogel
The paper evaluates the prevalence of RFC1 and DAB1 repeat expansions in an undiagnosed ataxia cohort, finding biallelic RFC1 expansions in 2.7% of patients.
Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett…·Paul J. Lockhart
This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.