Jong‐Hee Chae

Cas9-enriched nanopore sequencing enables comprehensive and multiplexed detection of repeat expansions

The paper introduces a nanopore sequencing method with Cas9 targeting and an analysis algorithm to detect STR expansions, identifying pathogenic repeats in cerebellar ataxia patients.

Pangenome-based identification of cryptic pathogenic variants in undiagnosed rare disease patients

This study uses long-read sequencing and pangenome analysis to identify pathogenic variants in undiagnosed rare disease patients, finding novel mutations and epigenomic changes.

Comprehensive Genetic Profiling of Sensorineural Hearing Loss Using an Integrative Diagnostic Approach

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea

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

Inhibiting EZH2 complements steroid effects in Duchenne muscular dystrophy

The paper investigates the role of EZH2 in Duchenne muscular dystrophy and shows that inhibiting EZH2 improves muscle phenotype in Dmd mutant mice when combined with glucocorticoids.

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.

Adenine base editing corrects point mutation in mitochondrial single-stranded binding protein (SSBP1) to improve mitochondrial function

This study corrects a SSBP1 mutation using adenine base editors, improving mitochondrial function but with trade-offs between editing efficacy and off-target risks.

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.