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Author

Moon-Woo Seong

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Open access Sep 2026

Succinate dehydrogenase (SDHB, SDHC, SDHD) gene variants significantly modify clinical outcomes in paraganglioma-pheochromocytoma but have a limited impact on head and neck paraganglioma.

PURPOSE Succinate dehydrogenase (SDH) gene variant types differentially influence risk for thoracic-abdominal paraganglioma-pheochromocytoma (PPGL) and head and neck paraganglioma (HNPGL), but quantitative correlations are lacking. METHODS In this genotype-phenotype study of 2706 patients with PPGL-HNPGL and SDH vari...

J. Bayley, Lauren Fishbein, S. Akker 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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