Moses Lee

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

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.

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

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