Author

Yosuke Hiramuki

National Center of Neurology and Psychiatry

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Developmental Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Organism:human· 1 Organism:mouse· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Charis L. HimedaiD· 1 shared Chiaki MoriiD· 1 shared Dae‐Seong KimiD· 1 shared Ichizo NishinoiD· 1 shared Keiko IshikawaiD· 1 shared Kenichiro Nakamura· 1 shared Koji Ikezoe· 1 shared Madoka Mori‐YoshimuraiD· 1 shared

Activity by Year

2022-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperDevelopmental Biology

Charis L. HimedaORCID

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2 papers

Recent·Most cited

Transgenic mouse models for investigating human DUX4 expression during development and its roles in FSHD pathophysiology

Yosuke Hiramuki, Charis L. Himeda, Peter L. Jones, Takako Iida Jones

This study creates transgenic mouse models with human DUX4 regulatory elements to explore DUX4 expression patterns and their role in FSHD pathophysiology.

Disease Models & Mechanisms · Apr 7, 2026Peer-reviewedDevelopmental Biology

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

Yosuke Hiramuki, Yuriko Kure, Yoshihiko Saito, Megumu Ogawa, Keiko Ishikawa, Madoka Mori‐Yoshimura, Yasushi Oya, Yuji Takahashi, Dae‐Seong Kim, Noriko Arai, Chiaki Mori, Tsuyoshi Matsumura, Tadanori Hamano, Kenichiro Nakamura, Koji Ikezoe, , Ichizo Nishino

This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.

medRxiv · Jun 24, 2022 · PreprintGenetic & Genomic Medicine