Author

Yosuke Nishio

Nagoya City UniversityORCID 0000-0003-3543-7491Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:mouse· 1

Frequent Co-Authors

Kohji Kato· 2 shared Shinji SaitohiD· 2 shared Tomoo OgiiD· 2 shared Ajaz Ahmad BhatiD· 1 shared Akihiko SaitoiD· 1 shared Alexander A.L. JorgeiD· 1 shared Alina HestersiD· 1 shared Aljazi Al-Maraghi· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Kohji Kato

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedMar 30, 2026

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

2 citationstop 3%

humanDNA methylation

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Genetic & Genomic MedicinemedRxivPreprintAug 17, 2024

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan…·Peter J. Cullen

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.

2 citations

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