Judy Shih-Hwa Liu

This study identifies ASH1L mutations causing a neurodevelopmental disorder with sex-specific effects on epilepsy and autism in mice and humans.

This study shows that ASH1L mutations disrupt chromatin regulation, leading to neuronal dysfunction and disease-related gene dysregulation, and identifies potential therapeutic strategies.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

This study shows ASH1L regulates neuronal connectivity by modulating BDNF/TrkB signaling through its interaction with PRC2 in human neurons, linking ASH1L mutations to autism pathogenesis.