Author

Seiji Mizuno

Aichi Human Service CenterORCID 0000-0002-1491-4124Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:differential expression· 3 Approach:statistical model· 3 Assay:DNA methylation· 2 Research Focus:cell type annotation· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1

Frequent Co-Authors

Alexander A.L. JorgeiD· 1 shared Alina HestersiD· 1 shared Alma Kuechler· 1 shared Amanda R. ClauseiD· 1 shared Andréa de Castro LealiD· 1 shared Arif O. Khan· 1 shared Beatriz PuisaciD· 1 shared Bekim SadikovićiD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alexander A.L. JorgeORCID

Mutual co-authors in cluster

Author profile →

3 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

DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi, Hiromi Kamura, Kazuaki Kojima, Hiroki Kikuchi, Miho Terao, Tohru Sugawara, Ohsuke Migita, Masayo Kagami, Tsuyoshi Isojima, Yu Yamaguchi, Keiko Wakui, Hirofumi Ohashi, , Kenichiro Hata

The paper identifies DNA methylation signatures associated with NSD2 loss-of-function variants and shows their similarity to those in Wolf-Hirschhorn syndrome.

bioRxiv · Jan 6, 2023 · PreprintGenetics

Identification of SMARCD1 as a syndromic intellectual disability gene that is required for memory and context-dependent regulation of neuronal genes in Drosophila

Kevin C.J. Nixon, Justine Rousseau, Max H. Stone, Mohammed Halit Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, DDD study

The paper identifies SMARCD1 mutations as a cause of intellectual disability and shows its role in regulating neuronal gene expression during development in Drosophila.

bioRxiv · Sep 25, 2018 · PreprintGenetics