Kimberley Jade Anderson

This study identifies SARAF as a repressor of the mild hypothermia response by regulating JUN and calcium dynamics, showing its role in cytoprotection against hypoxia.

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

This study investigates the molecular consequences of epigenetic machinery disruption in neuronal progenitors by knocking out EM factors and analyzing gene expression and DNA methylation changes.

This study identifies SMYD5 as a regulator of the mild hypothermia response through histone modifications, revealing its role in temperature-dependent gene repression.

This study demonstrates that in-utero restoration of KMT2A in a mouse model of WDSTS rescues neurological phenotypes, suggesting a therapeutic window during mid-gestation.

The paper identifies that WSS-causing variants in KMT2A cluster in the CXXC domain and demonstrates AlphaFold2's ability to accurately classify these variants.