2012 - 2014 Integrated analysis of Exome-seq and RNA-seq for genetic diseases
2008 - 2009 Identification of the gene responsible for hereditary spastic paraplegia by homozygosity haplotype mapping
Papers (60):
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka. A Japanese patient with neonatal biotin-responsive basal ganglia disease. Human genome variation. 2022. 9. 1. 35-35
Kuno Suzuki, Hideyoshi Igata, Motoki Abe, Yusuke Yamamoto. Multiple cancer type classification by small RNA expression profiles with plasma samples from multiple facilities. Cancer science. 2022. 113. 6. 2144-2166
Kuno Suzuki, Tatsuya Yamaguchi, Masakazu Kohda, Masami Tanaka, Hiroyuki Takemura, Mitsuru Wakita, Yoko Tabe, Shunsuke Kato, Motomi Nasu, Takashi Hashimoto, et al. Establishment of preanalytical conditions for microRNA profile analysis of clinical plasma samples. PloS one. 2022. 17. 12. e0278927
Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, et al. Valine metabolites analysis in ECHS1 deficiency. Molecular Genetics and Metabolism Reports. 2021. 29. 100809-100809
Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome. Scientific Reports. 2021. 11. 1