Gali Heimer

This study identifies conserved transcriptomic signatures in GNB1 encephalopathy across human and mouse models, linking GNB1 mutations to developmental, epileptic, and neuronal dysfunction.

Patient-derived neuronal models and mouse models reveal that truncated ASXL3 drive epigenetic dysregulation through a gain-of-function mechanism.

This study shows that loss of MECR causes elevated ceramide levels and impaired iron metabolism, linking mitochondrial fatty acid synthesis to neurodegeneration.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.