Author
Stanford MedicineORCID 0000-0002-4991-6496Unclaimed 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.
Danique Beijer, Hong Joo Kim, Lin E. Guo…·Jonathan Baets
The paper characterizes HNRNPA1 mutations in patients with neurodegenerative diseases, showing varied effects on fibrillization, phase separation, and stress granule dynamics.
Brittney A. Otero, Kiril Poukalov, Ryan P. Hildebrandt…·Eric T. Wang
The paper analyzes RNA-seq transcriptomes from frontal cortex tissue of DM1 and DM2 patients to identify splicing changes and their implications for CNS dysfunction.