Bruria Ben‐Zeev

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

This study uses comparative genomics to identify potential therapeutic targets for Rett syndrome by analyzing co-evolutionary relationships with MECP2 and testing drug candidates in neural cells.

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.

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.