Bakhrom K. Berdiev

The paper identifies tissue- and isoform-level genetic regulation differences between epilepsy and SUDEP, revealing distinct cardiac and neuronal gene expression patterns.

This study identifies pulmonary microvascular rarefaction as a novel mechanism in heart failure, linking it to impaired gas exchange and worsened cardiac function.

The paper evaluates the Horizon model, a CNV classification tool aligned with ACMG guidelines, showing high accuracy in pathogenicity prediction across multiple datasets.