Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders
Youngha Lee, Jin Sook Lee, Soo Yeon Kim, Jaeso Cho, Yongjin Yoo, Sangmoon Lee, Taekyeong Yoo, Moses Lee, Jieun Seo, Jeongeun Lee, Jana Kneissl, Eunha Kim, Hyuna Kim, Woo Joong Kim, Jon Soo Kim, , Jong‐Hee Chae
This study uses whole exome sequencing to diagnose 352 Korean pediatric patients with undiagnosed neurodevelopmental disorders, identifying pathogenic variants in 57.4% of cases.
bioRxiv · Nov 18, 2018 · PreprintGenetics