Sylvia Boesch

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

The paper uses fibroblast RNA-seq to improve molecular diagnosis in dystonia patients by identifying RNA expression and splicing defects missed by genomic sequencing.

This study uses MRI volumetrics to characterize brain atrophy patterns in SCA2, finding progressive degeneration starting in cerebellar white matter and spreading to other brain regions.