2016 - 2019 Development of diagnosis program and clinical application with congenital visual impairment patients for tailor-made medicine
2016 - 2019 Elucidation for genetic basis and molecular pathology of infantile epileptic encephalopathy
2015 - 2018 遺伝性白質疾患の診断・治療・研究システムの構築
2014 - 2017 難治性てんかんを呈する希少疾患群の遺伝要因と分子病態の解明
2014 - 2016 Comprehensive RNA analysis of disease causing genes by target RNA capture
2013 - 2016 Elucidation for genetic basis of infantile epileptic encephalopathy by using comprehensive genetic analysis
2012 - 2015 Identification of novel causative genes for early-onset epileptic encephalopathies using HRM analysis and next-generation sequencer
2010 - 2013 孔脳症の遺伝的要因の解明
2010 - 2012 Identification of responsive genes for age-dependent infantile epileptic encephalopathy
2010 - 2011 Isolation of a causative gene for microphthalmia with limb anomaly
2008 - 2009 Identification of responsive genes for infantile epilepsy using genomic microarray
2006 - 2007 Molecular mechanisms of forebrain morphogenesis
2006 - 2007 マウス胚神経管における葉酸受容体の発現調節機構およびその細胞系譜の解析
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Papers (549)：
Ryosuke Matsumura, Hiroki Morimoto, Kensuke Fukuchi, Hirotomo Saitsu, Tetsuya Honda. Symmetrical Acrokeratoderma in a Japanese Patient With Two FLG Nonsense Variants. The Journal of dermatology. 2025
Takato Akiba, Kaori Yamoto, Takuya Hiraide, Tsutomu Ogata, Tokiko Fukuda, Hirotomo Saitsu, Katsumi Imai. Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant. Seizure. 2025. 131. 340-343
Rei Ishikawa, Hidetaka Yamada, Hirotomo Saitsu, Ryosuke Miyazaki, Juri Takahashi, Rino Takinami, Satoshi Baba, Mitsuko Nakashima, Moriya Iwaizumi, Satoshi Osawa, et al. Immunohistochemical and molecular evolutionary features of jejunoileal adenocarcinoma unveiled through comparative analysis with colorectal adenocarcinoma. Neoplasia (New York, N.Y.). 2025. 66. 101180-101180
Hirotomo Saitsu, Sachiko Miyamoto. Genetic analysis of leukodystrophies in children: towards improved diagnostic yield. Brain & development. 2025. 47. 4. 104378-104378
Takuya Hiraide, Taiju Hayashi, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda. An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO. Brain & development. 2025. 47. 5. 104405-104405
