Donald R. Latner

This study identifies RUBCN variants in neurodevelopmental disorders and shows they cause autophagy overdrive, leading to neurodegeneration.

The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.

This study shows that long-read genome sequencing improves diagnostic yield for neurodevelopmental disorders by identifying variants missed by short-read sequencing.

The paper identifies clinically relevant variants in poison exons (PEs) that improve diagnostic yield for neurodevelopmental disorders by uncovering variants previously overlooked in standard analyses.

This study evaluates genome sequencing in hospitalized newborns, finding it more effective than standard care in identifying genetic diagnoses, especially in those with specific phenotypes.