Research field (2)：
Science education
, Fetal medicine/Pediatrics
Research keywords (2)：
遺伝子組換え(安全管理)
, 小児神経学
Research theme for competitive and other funds (8)：
2023 - 2026 Exploring factors influencing social acceptance of genome editing technology
2023 - 2026 Research to develop support methods for patients and families after diagnosis of rare genetic disorders, focusing on "rarity" and "heredity
2020 - 2023 Development of a new genetic testing by clinical natural language processing and comprehensive gene analysis
2019 - 2023 Study for handling of genome editing technique and national literacy improvement
2019 - 2022 Research and development of therapeutic methods for Fukuyama congenital muscular dystrophy focusing on central nervous system dysfunction
2015 - 2018 Study of handling and ethical problems about new gene modification technology, genome editing
2014 - 2017 The elucidation of growth failure due to GH/IGF signaling abnormality
2013 - 2015 The world's first establishment of disease concept and mouse model creation about histidine repeat disease
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Papers (121)：
Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, et al. Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing. Nucleic acids research. 2024. 52. 1. 114-124
Tatsuya Kawaguchi, Tohru Okanishi, Tetsuya Okazaki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Yuichi Yoshida, Noriko Miyake, Naomichi Matsumoto, Yoshihiro Maegaki. Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant. Yonago acta medica. 2023. 66. 4. 463-466
Tetsuya Okazaki, Tatsuya Kawaguchi, Yusuke Saiki, Chisako Aoki, Noriko Kasagi, Kaori Adachi, Ken Saida, Naomichi Matsumoto, Eiji Nanba, Yoshihiro Maegaki. Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion. Human genome variation. 2022. 9. 1. 14-14
