Woo Joong Kim

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

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.