Elisa A. Waxman

This paper uses an iPSC model of BLBS to show that the H3.3 L48R variant disrupts chromatin dynamics, neuronal differentiation, and electrophysiological function.

This paper demonstrates that CRISPR-mediated transcriptional activation can upregulate SYNGAP1 in a mouse model of SRID and human neurons, rescuing deficits without targeting mutations.

This study shows that human cortical organoids generated across multiple sites using a harmonized protocol consistently produce similar cell types and structures, though with some site-specific differences in size and stress markers.

This paper creates an iPSC model of Multiple Sulfatase Deficiency, showing that neurons become more vulnerable to SUMF1 loss during differentiation.

This study identifies Bach2 as a repressor of Nrf2-mediated antioxidant enzyme expression in dopaminergic neurons, explaining limited Nrf2 activity and proposing Bach2 as a drug target for Parkinson's disease.