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Jung-Min Ko

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Oct 2026

Epigenomic correlates of co-morbid psychosis in 22q deletion syndrome.

PURPOSE 22q11.2 deletion syndrome (22q11DS) confers one of the strongest genetic risks of psychiatric disorders, with up to 25% of 22q11DS patients developing symptoms of psychosis. The broad phenotypic spectrum, variable deletion size, and lack of a defined pathogenic mechanism make it likely that 22q11DS phenotypes a...

Alexander S. Byrne, S. Goodman, Hannah Nie et al. · 0 citations
Open access Jul 2026

Unraveling missing variants through target capture-based long-read sequencing in autosomal recessive disorders.

It is demonstrated that target capture-based LRS effectively detects diverse types of variants missed by SRS, and integrating this assay into stepwise diagnostic workflows offers a practical and cost-effective strategy to enhance diagnostic yield in autosomal recessive diseases.

Jee-Soo Lee, K. Ryu, Hyesu Lee et al. · 0 citations

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