Leroy Bondhus

This study identifies KAT6A mutations in ARTHS patients and shows their role in epigenetic regulation of the posterior HOXC cluster through chromatin accessibility, histone acetylation, and DNA methylation changes.

This study shows KAT6A mutations cause transcriptional dysregulation of cell cycle and autism risk genes in cerebral organoids, leading to delayed neural differentiation and altered gene expression patterns.

DMRscaler identifies differential methylation regions across various epigenetic scales in DNA methylation data, outperforming existing methods in accuracy and range.