Seungbok Lee

The paper introduces a nanopore sequencing method with Cas9 targeting and an analysis algorithm to detect STR expansions, identifying pathogenic repeats in cerebellar ataxia patients.

This study uses long-read sequencing and pangenome analysis to identify pathogenic variants in undiagnosed rare disease patients, finding novel mutations and epigenomic changes.

This study applies trio-based whole-genome sequencing in critically ill pediatric patients, achieving a 55% diagnostic yield and impacting patient management.

This study identifies de novo HDAC3 variants in patients with neurodevelopmental disorders and shows they cause reduced HDAC activity, disrupted protein interactions, and impaired nuclear localization.