Soo Yeon Kim

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.

The paper identifies pathogenic variants in 57.5% of 553 undiagnosed neurodevelopmental patients, revealing a high proportion of recessive variants and their potential for carrier screening.

This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.