Sarina M. Smith

This paper describes a novel mouse model of Bryant-Li-Bhoj Syndrome that recapitulates key developmental and behavioral phenotypes, providing a platform for therapeutic testing.

This study creates a mouse model of TBCK Syndrome by knocking out the Tbck gene, revealing early neurodevelopmental phenotypes and systemic alterations consistent with the human disorder.

The paper establishes a human cell model for TBCK syndrome, showing mitochondrial dysfunction and partial rescue with a fission inhibitor.