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Author

M. Inaba

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Open access Jul 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening

Reanalyzed whole-genome sequencing data from 1,578 unsolved probands and identified pathogenic variants in multiple snRNA genes, including RNU4-2, RNU2-2, RNU5B-1, and RNU4ATAC, and developed an snRNA-extended WES approach by incorporating capture probes targeting 50 snRNA genes into a standard exome design.

Yuka Nakano, Hisato Suzuki, Yukiko Kuroda et al. · 0 citations
Case report Open access Aug 2026

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long‐Read Sequencing and RNA Analysis

The findings expand the phenotypic spectrum of VPS41‐related disease and highlight the value of long‐read allelic resolution in clarifying pathogenic mechanisms in rare genetic disorders.

Natsuki Nakamura, Y. Nishio, Hiromi Nyuzuki et al. · 0 citations

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