Seiji Mizuno

Hokkaido University — Japan

Biochemistry, Genetics and Molecular Biology · Life Sciences

42h-index5.8kcitations237works0.62yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(44), Prenatal Screening and Diagnostics(20), Genomics and Rare Diseases(20), Genetic Syndromes and Imprinting(20), Genetics and Neurodevelopmental Disorders(19)

Publications237 total

Independent BRAF Fusion Genes Cause Pigmented Nevi in Ring Chromosome 7 Syndrome.
PubMed·2026
Phononic rainbow trapping and reflection phase time in one-dimensional graded superlattices
Japanese Journal of Applied Physics·2026
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders
Journal of Human Genetics·2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype
2025Open Access
miR-199a functions downstream of MeCP2 in neurons of MECP2 duplication syndrome models
iScience·2025Open Access
DNA polymerase β suppresses somatic indels at CpG dinucleotides in developing cortical neurons
Proceedings of the National Academy of Sciences·2025Open Access
Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis
Scientific Reports·2025Open Access
Clinical and molecular overlap between nucleotide excision repair (NER) disorders and DYRK1A haploinsufficiency syndrome
Frontiers in Neuroscience·2025Open Access
Pathophysiological significance of the p.E31G variant in RAC1 responsible for a neurodevelopmental disorder with microcephaly
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2024· 1 cited
Truncating variants of the sterol recognition region of <i>SHH</i> cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
American Journal of Medical Genetics Part A·2024Open Access
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome
Genetics in Medicine Open·2024· 6 citedOpen Access
Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome
European Journal of Medical Genetics·2023· 2 cited
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Human Genetics·2023· 8 citedOpen Access
DNA methylation signature in <i>NSD2</i> loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome
2023· 1 citedOpen Access
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
Journal of Human Genetics·2022
Atypical Sotos syndrome caused by a novel splice site variant
Human Genome Variation·2022· 2 citedOpen Access
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction
Journal of Human Genetics·2022· 1 cited
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
Journal of Medical Genetics·2022· 25 citedOpen Access
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases
Scientific Reports·2022· 7 citedOpen Access
Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes
Journal of Human Genetics·2022· 16 cited
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Frequent Co-authors

Nobuhiko Okamoto(27), Hirofumi Ohashi(15), Hiroshi Kawame(12), Naomichi Matsumoto(11), Noriko Miyake(10), Kenji Kurosawa(10), Tsutomu Ogata(10), Yoichi Matsubara(10), Yoko Aoki(9), Tetsuya Niihori(9), Yoshinori Tsurusaki(7), Tomoki Kosho(7), Toshiro Nagai(7), Shigeo Kure(7), Yoshimitsu Fukushima(6), Hirotomo Saitsu(6), Yoko Hiraki(5), Masayo Kagami(5), Nobuaki Wakamatsu(5), Keiko Wakui(4)