Ja Hye Kim

High-fidelity long-read sequencing reveals a complex RCCX locus at the single-nucleotide level in Korean patients with congenital adrenal hyperplasia

This study uses high-fidelity long-read sequencing to resolve the complex RCCX locus in Korean CAH patients at the single-nucleotide level, identifying structural variants and haplotypes.

Multi-organ analysis of low-level somatic mosaicism reveals stage- and tissue-specific mutational features in human development

The paper analyzes low-level somatic mutations across multiple organs and developmental stages, finding stage- and tissue-specific mutational features.