Zachary T Bonnstetter

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

The paper analyzes genomic data from early-onset and atypical dementia patients to show that both rare and common genetic variations contribute to dementia risk.

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.