Shira Rockowitz

This study evaluates the diagnostic yield of long-read sequencing in pediatric sensorineural hearing loss, finding it detects structural variants missed by short-read sequencing.

This study examines how dup15q affects gene expression and chromatin accessibility in specific brain cell types, finding cell-type-specific effects and distinct regulatory mechanisms in ASD and dup15q.

This study identifies novel embryonic and metabolic phenotypes in SelN-deficient zebrafish and myoblasts, linking SelN function to redox and metabolic pathways.

This study shows that targeting endothelial FOXO1 reduces IGF2 levels, improves β-cell function, and enhances wound healing in diabetes.

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.