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
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
2008 - 2009 Identification of responsive genes for infantile epilepsy using genomic microarray
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 (460):
Mitsuko Nakashima, Emanuela Argilli, Sayaka Nakano, Elliott H Sherr, Mitsuhiro Kato, Hirotomo Saitsu. De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities. Journal of human genetics. 2023. 68. 4. 291-298
Kazuyuki Komatsu, Kimiyoshi Sakaguchi, Daisuke Shimizu, Kaori Yamoto, Fumiko Kato, Isao Miyairi, Tsutomu Ogata, Hirotomo Saitsu. Characterization of KMT2A::MATR3 fusion in a patient with acute lymphoblastic leukemia and monitoring of minimal residual disease by nanoplate digital PCR. Pediatric blood & cancer. 2023. 70. 4. e30120
Sachiko Miyamoto, Kazuyuki Nakamura, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu. Identification of pathogenic deep intronic variant and exonic LINE-1 insertion in a patient with Meckel syndrome. Annals of human genetics. 2023
Hazuki Morikawa, Sachiko Nishina, Kaoruko Torii, Katsuhiro Hosono, Tadashi Yokoi, Chika Shigeyasu, Masakazu Yamada, Motomichi Kosuga, Maki Fukami, Hirotomo Saitsu, et al. A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene. Human genome variation. 2023. 10. 1. 9-9
Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome. Journal of human genetics. 2023