Jung Min Ko

De novo HDAC3 variants leading to epigenetic machinery dysfunction are associated with a neurodevelopmental disorder

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.

Systematic analysis of disease-linked rare germline variants reveals new classes of cancer predisposing genes

The paper identifies new cancer predisposing genes by analyzing rare germline variants in Mendelian disease genes across cancer cohorts.

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome

The paper identifies somatic uniparental disomy in EFL1 as a mechanism that mitigates severe SDS by allowing milder variants to dominate in bone marrow cells.

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.