Hirotomo Saitsu

98PUBLICATIONS
194CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsMolecular targetsGenetic immunologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (98)

|Jun 29, 2026
Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

|Jun 23, 2026
Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder.

|Apr 15, 2026
CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low-gamma oscillations and seizure susceptibility.

Hiroki Mutoh, Kazushi Aoto, Atsuo Fukuda

|Mar 31, 2026
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2.

Kaori Yamoto, Sachiko Miyamoto, Shinichiro Sano

|Mar 28, 2026
A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets.

Hitoshi Kuwabara, Masaki Kojima, Seico Benner

|Mar 25, 2026
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.

Toru Takagi, Sachiko Miyamoto, Kenji Shimizu

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Frequent Collaborators

32 joint publications

Mitsuko Nakashima

17 joint publications

Tsutomu Ogata

13 joint publications

Sachiko Miyamoto

13 joint publications

Maki Fukami