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Hirotomo Saitsu

hamamatsu university school of medicine

69H-index
682Paper Count
1.8WCitation Count
Published Papers 151
Publication Date
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CaMKIIβ insufficiency disrupts cortical networks, producing aberrant low-gamma oscillations and seizure susceptibility
errEpilepsia
IF6.6
err2026-04-15
err0
errOAAI
errHiroki Mutoh; Kazushi Aoto; Atsuo Fukuda; Hirotomo Saitsu
errShare
errSave
Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2
errHuman Genome Variation
IF1.3
err2026-04-01
err0
PREAI
errDohi, Shuhei; Hotta, Junko; Ito, Kosuke; Yamashita, Tomoyo; Ono, Chie; Sakuma, Satoru; Komatsu, Kazuyuki; Inoue, Ken; Saitsu, Hirotomo; Hamazaki, Takashi; Seto, Toshiyuki
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errSave
Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2
errEuropean Journal of Endocrinology
IF5.2
err2026-04-01
err0
PREAI
errYamoto, Kaori; Miyamoto, Sachiko; Sano, Shinichiro; Ohkubo, Yumiko; Tanikawa, Wataru; Masunaga, Yohei; Higuchi, Shinji; Mori, Jun; Fujisawa, Yasuko; Saitsu, Hirotomo; Ogata, Tsutomu
errShare
errSave
A key gene modulating oxytocin efficacy in autism: genome-wide discovery and verification in randomized controlled trials datasets
errMolecular Psychiatry
IF10.1
err2026-03-28
err0
PREAI
errHitoshi Kuwabara; Masaki Kojima; Seico Benner; Takeshi Otowa; Takamitsu Watanabe; Miho Kuroda; Keiho Owada; Walid Yassin; Junko Hamada; Yukiko Kano; Yota Uno; Itaru Kushima; Daisuke Mori; Yuko Arioka; Toshio Munesue; Kiyoto Kasai; Haruhiro Higashida; Osamu Abe; Hidemasa Takao; Tomoyasu Wakuda; Yosuke Kameno; Jun Inoue; Taeko Harada; Aya Yamauchi; Nanayo Ogawa; Nami Honda; Saya Kikuchi; Moe Seto; Hiroaki Tomita; Noriko Miyoshi; Megumi Matsumoto; Yuko Kawaguchi; Koji Kanai; Manabu Ikeda; Itta Nakamura; Shuichi Isomura; Yoji Hirano; Toshiaki Onitsuka; Nagahide Takahashi; Mitsuko Nakashima; Hirotomo Saitsu; Kenji Kondo; Masashi Ikeda; Nakao Iwata; Mihoko Shimada; Tsukasa Sasaki; Nori Takei; Norio Ozaki; Hirotaka Kosaka; Takashi Okada; Hidenori Yamasue
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errSave
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells
errJournal of Human Genetics
IF2.5
err2026-03-24
err0
PREAI
errToru Takagi; Sachiko Miyamoto; Kenji Shimizu; Yasuhiko Tanaka; Tomoko Matsubayashi; Yohei Masunaga; Hirotomo Saitsu
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errSave
De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings
errJournal of Human Genetics
IF2.5
err2026-01-13
err0
PREAI
errMaiko Ikeda; Chikahiko Numakura; Gen Nishimura; Naoya Saijo; Jun Takayama; Yasuko Fujisawa; Toru Sengoku; Kazuhiro Ogata; Hirotomo Saitsu; Tsutomu Ogata
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errSave
Identification of 5’ untranslated region variants in genes involved in neurodevelopmental disorders
errJournal of Human Genetics
IF2.5
err2026-01-05
err0
PREAI
errTaiju Hayashi; Sachiko Miyamoto; Yusaku Endo; Kenji Shimizu; Yumiko Ohkubo; Kazuyuki Komatsu; Shogo Furukawa; Mitsuko Nakashima; Tokiko Fukuda; Tsutomu Ogata; Takuya Hiraide; Hirotomo Saitsu
errShare
errSave
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-10-01
err0
PREAI
errTanikawa, Wataru; Okamoto, Shingo; Ohara, Osamu; Masunaga, Yohei; Yamoto, Kaori; Fujisawa, Yasuko; Ohyama, Ibuki; Saitsu, Hirotomo; Fukami, Maki; Kaname, Tadashi; Ogata, Tsutomu
errShare
errSave
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
errJournal of Human Genetics
IF2.5
err2025-09-16
err0
errOAAI
errSachiko Nishina; Kaoruko Torii; Shizuka Ishitani; Tomoyo Yoshida; Maki Fukami; Kenji Kurosawa; Kenjiro Kosaki; Hirotomo Saitsu; Tohru Ishitani; Yoshihiro Hotta
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errSave
Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants
errBRAIN & DEVELOPMENT
IF1.3
err2025-09-01
err0
errOAAI
errSugiyama, Ryo; Shimizu-Motohashi, Yuko; Sakata, Yuka; Omata, Taku; Takanashi, Jun-ichi; Furukawa, Shogo; Nakashima, Mitsuko; Saitsu, Hirotomo; Sato, Noriko; Komaki, Hirofumi
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errSave
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
errJournal of Human Genetics
IF2.5
err2025-08-22
err0
PREAI
errKazuki Watanabe; Tatsuya Ema; Kenji Shimizu; Kosuke Yamada; Mitsuko Nakashima; Hirotomo Saitsu
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errSave
Symmetrical Acrokeratoderma in a Japanese Patient With Two FLG Nonsense Variants
errdermatology
IF0
err2025-08-14
err0
PREAI
errRyosuke Matsumura; Hiroki Morimoto; Kensuke Fukuchi; Hirotomo Saitsu; Tetsuya Honda
errShare
errSave
Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant
errseizure european journal of epilepsy
IF0
err2025-08-10
err0
PREAI
errTakato Akiba; Kaori Yamoto; Takuya Hiraide; Tsutomu Ogata; Tokiko Fukuda; Hirotomo Saitsu; Katsumi Imai
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errSave
Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma
errNeoplasia
IF7.7
err2025-05-21
err0
PREAI
errRei Ishikawa; Hidetaka Yamada; Hirotomo Saitsu; Ryosuke Miyazaki; Juri Takahashi; Rino Takinami; Satoshi Baba; Mitsuko Nakashima; Moriya Iwaizumi; Satoshi Osawa; Hideya Kawasaki; Yoshifumi Arai; Yoshiro Otsuki; Hiroshi Ogawa; Hiroki Mori; Fumihiko Tanioka; Shioto Suzuki; Kazuyo Yasuda; Makoto Suzuki; Haruhiko Sugimura; Kazuya Shinmura
errShare
errSave
Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases
errBMC MEDICAL INFORMATICS AND DECISION MAKING
IF3.8
err2025-02-05
err0
errOAAI
errShin, Jaemoon; Fujiwara, Toyofumi; Saitsu, Hirotomo; Yamaguchi, Atsuko
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errSave
Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review
errREPRODUCTIVE MEDICINE AND BIOLOGY
IF3.3
err2025-02-01
err1
errOAAI
errWataru Tanikawa; Hirotomo Saitsu; Yasuhiko Nakamura; Yuichiro Shirafuta; Yasuko Fujisawa; Maki Fukami; Norihiro Sugino; Tsutomu Ogata
errShare
errSave
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
errSCIENTIFIC REPORTS
IF3.9
err2024-10-21
err0
errOAAI
errKomatsu, Kazuyuki; Kato, Mitsuhiro; Kubota, Kazuo; Fukumura, Shinobu; Yamada, Keitaro; Hori, Ikumi; Shimizu, Kenji; Miyamoto, Sachiko; Yamoto, Kaori; Hiraide, Takuya; Watanabe, Kazuki; Aoki, Shintaro; Furukawa, Shogo; Hayashi, Taiju; Isogai, Masaharu; Harasaki, Takuma; Nakashima, Mitsuko; Saitsu, Hirotomo
errShare
errSave
The non-canonical bivalent gene Wfdc15a controls spermatogenic protease and immune homeostasis
errDEVELOPMENT
IF3.6
err2024-09-17
err1
PREAI
errTomizawa, Shin-ichi; Fellows, Rachel; Ono, Michio; Kuroha, Kazushige; Dockal, Ivana; Kobayashi, Yuki; Minamizawa, Keisuke; Natsume, Koji; Nakajima, Kuniko; Hoshi, Ikue; Matsuda, Shion; Seki, Masahide; Suzuki, Yutaka; Aoto, Kazushi; Saitsu, Hirotomo; Ohbo, Kazuyuki
errShare
errSave
Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver-Russell syndrome: case reports and literature review
errCLINICAL EPIGENETICS
IF4.4
err2024-06-05
err0
errOAAI
errYamoto, Kaori; Saitsu, Hirotomo; Ohkubo, Yumiko; Kagami, Masayo; Ogata, Tsutomu
errShare
errSave
Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion
errCLINICAL NUCLEAR MEDICINE
IF9.6
err2024-01-15
err0
PREAI
errTsuchiya, Mitsuteru; Bunai, Tomoyasu; Watanabe, Kazuki; Saitsu, Hirotomo; Goshima, Satoshi
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
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S
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H-index: 145 · Papers: 1.1K
J
Jeffrey A. Towbin
H-index: 143 · Papers: 809
W
William B. Dobyns
H-index: 127 · Papers: 600
Y
Yukio Ando
H-index: 119 · Papers: 5.1K
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