Sara Tholl Halldorsdottir

This study shows that KMT2D deficiency causes chondrocyte hypertrophy and senescence via increased mitochondrial ROS, leading to skeletal abnormalities in KS1.

The paper introduces a missense mouse model of Kabuki syndrome with intact KMT2D function, showing similar phenotypes to loss-of-function models but without altered adult neurogenesis and with novel kidney agenesis.

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

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