Jaejoon Choi

Clonal Hematopoiesis Mutations Increase Risk of Alzheimer's Disease with APOE ϵ3/ϵ3 Genotype

This study finds that Alzheimer's disease patients have more clonal hematopoiesis mutations than controls, especially those with APOE ε3/ε3 genotype, suggesting a risk factor independent of APOE ε4.

Metabolomic and transcriptomic signature in Kabuki syndrome

This study identifies metabolomic and transcriptomic signatures in Kabuki syndrome patients, revealing altered metabolites and pathways that could serve as biomarkers for early detection.

Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki Syndrome

This study examines how KMT2D mutations affect histone modifications and gene expression in PBMCs from KS patients, identifying altered enhancer activity and transcriptional changes linked to immune and metabolic gene dysregulation.

Whole-genome analysis of de novo and polymorphic retrotransposon insertions in Autism Spectrum Disorder

This study identifies de novo and polymorphic retrotransposon insertions in ASD families, finding increased exonic and intronic insertions in ASD cases compared to controls.