Author

Kohji Kato

University of Bristol

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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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

Shinji SaitohiD· 2 shared Tomoo OgiiD· 2 shared Yosuke NishioiD· 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

Shinji SaitohORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

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

Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama AlAbdi, Hesham Aldhalaan, Fowzan Sami Alkuraya, , Frank J. Kaiser

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

Nature Communications · Mar 30, 2026Peer-reviewedGenetic & Genomic Medicine

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

Kohji Kato, Yosuke Nishio, Kirsty J. McMillan, Aljazi Al-Maraghi, Hester Y. Kroes, Mohamed S. Abdel‐Hamid, Emma L. Jones, Shrestha Shaw, Aya Yoshida, Shiomi Otsuji, Yuka Murofushi, Waleed Aamer, Ajaz Ahmad Bhat, Jehan AlRayahi, Ammira Al‐Shabeeb Akil, , 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.

medRxiv · Aug 17, 2024 · PreprintGenetic & Genomic Medicine