Researcher Profile

Seiji Mizuno

🏛 Department of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.

0000-0002-1491-4124

Publications

Citations

Co-Authors

Active Years

Publications

Open Access Journal Article Nature Communications Mar 30, 2026

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

Ilaria Parenti · Alina Hesters · Marta Gil-Salvador · Laura Duffy +52 more

10.1038/s41467-026-71177-6

Open Access Journal Article iScience Nov 01, 2025

miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models

Yuichi Akaba · Satoru Takahashi · Shota Adachi · Masatoshi Nishimura +17 more

10.1016/j.isci.2025.113789

Open Access Journal Article Science Advances Dec 18, 2020

Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome

Yasuyoshi Oka · Masaaki Hamada · Yuka Nakazawa · Hideki Muramatsu +37 more

10.1126/sciadv.abd7197 82 citations

Open Access Journal Article The American Journal of Human Genetics Nov 01, 2019

Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment

Sarah K. Fiordaliso · Aiko Iwata-Otsubo · Alyssa L. Ritter · Mathieu Quesnel-Vallières +33 more

10.1016/j.ajhg.2019.09.009 17 citations

Publication Timeline

2026

2025

2020

2019

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