Ramil R. Noche

Machine-guided design of synthetic cell type-specific cis-regulatory elements

This paper designs synthetic cis-regulatory elements (CREs) that outperform natural ones in driving cell type-specific gene expression using deep learning and experimental validation.

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

The cationic amino acid exporter Slc7a7 is vital for and induced in tissue macrophages with sustained efferocytic activity

This study shows that Slc7a7 is essential for tissue macrophages with sustained efferocytic activity, as its expression is induced during efferocytosis and supports their survival.

De Novo Phosphoinositide Synthesis in Zebrafish Is Required for Triad Formation but Not Essential for Myogenesis

Identification of drug modifiers for RYR1 related myopathy using a multi-species discovery pipeline

This study identifies drug modifiers for RYR1-related myopathy using a multi-species pipeline, finding p38 inhibition as a potential therapeutic strategy.