Hannah Kate Vanyai

This study identifies SMCHD1 as a target for gene-activation therapy in Prader-Willi Syndrome by showing its role in repressing the PWS gene cluster and demonstrating gene activation in mouse models.

This study identifies a second DNA-binding site in SMCHD1 and shows that DNA binding stimulates its ATPase activity, revealing a mechanism for gene silencing.

This study shows DNMT3A mutations reduce DNA methylation and disrupt p53 pathway, increasing self-renewal and cancer risk in hematopoietic cells.

This study creates a mouse model of mosaic Slc35a2 knockout to study its impact on cortical development and epilepsy-related traits.

This study identifies a mutation in SMCHD1 that enhances gene silencing and disrupts developmental processes, revealing distinct roles of SMCHD1 in chromatin structure and gene regulation.

This study shows that PKN2 deficiency causes prenatal congenital cardiomyopathy and impairs angiotensin II-induced cardiac hypertrophy in adult mice.