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Author

Takeshi Yoshida

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Case report Open access Oct 2026

Intrafamilial phenotypic variability in B4GALNT1-related disorders: A sibling case report.

INTRODUCTION Pathogenic variants in β-1,4-N-acetylgalactosaminyltransferase 1 (B4GALNT1) are primarily associated with hereditary spastic paraplegia type 26 (SPG26). In addition, these variants have been implicated in Charcot-Marie-Tooth disease, suggesting a broad phenotypic continuum involving both the central and pe...

Saeka Yoshitake, H. Shimomura, Miki Matsui et al. · 0 citations
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
Aug 2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Re-analysis of human fetal cortex single-cell RNA sequencing data demonstrated that SEMA6A and FLNA are significantly co-expressed in apical radial glia and newborn excitatory neurons, suggesting that SEMA6A is a candidate contributor to neuronal migration defects in 5q22.3-q23.3 deletions.

K. Kora, Takeshi Yoshida, Atsuko Ikegawa et al. · 0 citations

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