Mohamad A. Mikati

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

This study shows that reducing midline thalamus neuron bursting prevents absence seizures in a mouse model by enhancing vigilance and suppressing seizure activity.

This study investigates the neuronal mechanism of a BK channelopathy in absence epilepsy and movement disorders using a knock-in mouse model and finds that BK channel inhibition can mitigate seizures and motor deficits.

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

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.