FUJITA Atsushi

フジタアツシ | FUJITA Atsushi

Affiliation and department：
Job title： Assistant Professor
Homepage URL (1)： https://www-user.yokohama-cu.ac.jp/~genetics/

Research field (1)： Genetics

Research theme for competitive and other funds (6)：

2022 - 2024 大頭症を伴う多発奇形症候群の遺伝学的原因の探索
2020 - 2022 限局性皮質異形成における体細胞変異、コピー数異常検出による遺伝的原因の解明
2019 - 2021 高感度な検出系を用いた限局性皮質異形成の責任遺伝子の同定
2017 - 2019 Elucidation of genetic basis for the brain malformations caused by somatic mosaic mutations.
2016 - 2019 Multidirectional approach for human rare diseases using massive parallel sequencing

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Papers (100)：

Yuta Inoue, Naomi Tsuchida, Chong Ae Kim, Bruno de Oliveira Stephan, Matheus Augusto Araujo Castro, Rachel Sayuri Honjo, Debora Romeo Bertola, Yuri Uchiyama, Kohei Hamanaka, Atsushi Fujita, et al. Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability. Journal of human genetics. 2024
Ken Higashimoto, Feifei Sun, Eri Imagawa, Ken Saida, Noriko Miyake, Satoshi Hara, Hitomi Yatsuki, Musashi Kubiura-Ichimaru, Atsushi Fujita, Takeshi Mizuguchi, et al. Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum. Journal of medical genetics. 2024
Eriko Koshimizu, Mitsuhiro Kato, Kazuharu Misawa, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Atsushi Fujita, Takeshi Mizuguchi, Satoko Miyatake, Naomichi Matsumoto. Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. Journal of human genetics. 2024
Masamune Sakamoto, Kenji Kurosawa, Koji Tanoue, Kazuhiro Iwama, Fumihiko Ishida, Yoshihiro Watanabe, Nobuhiko Okamoto, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, et al. A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities. Journal of human genetics. 2023
Yasuhiro Utsuno, Keisuke Hamada, Kohei Hamanaka, Keita Miyoshi, Keiji Tsuchimoto, Satoshi Sunada, Toshiyuki Itai, Masamune Sakamoto, Naomi Tsuchida, Yuri Uchiyama, et al. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders. Journal of human genetics. 2023

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MISC (7)：

Satomi Mitsuhashi, Atsushi Fujita, Naomichi Matsumoto. Detecting the NOTCH2NLC Repeat Expansion in Neuronal Intranuclear Inclusion Disease. Neuromethods. 2022. 121-138
藤田京志, 松本直通. 検査からみる神経疾患神経核内封入体病の遺伝学的検査. Clinical Neuroscience. 2020. 38. 6. 788-790
Jun Sone, Satomi Mitsuhashi, Atsushi Fujita, Hiroshi Takashima, Hiroshi Sugiyama, Yoshihisa Takiyama, Kengo Maeda, Fumiaki Tanaka, Yasushi Iwasaki, Mari Yoshida, et al. Long-read Sequencing Identifies GGC Repeat Expansions in NOTCH2NLC as the Cause of Neuronal Intranuclear Inclusion Disease. NEUROLOGY. 2020. 94. 15
萩野谷和裕, 冨樫紀子, 渋谷守栄, 宮林拓矢, 佐藤亮, 遠藤若葉, 大久保幸宗, 乾健彦, 藤田京志, 関口太, et al. 早期発症BAFME(良性成人型家族性ミオクローヌスてんかん)的な症候をとる2例. てんかん研究. 2019. 37. 2. 707-707
野村敏大, 本橋裕子, 石山昭彦, 竹下絵里, 齋藤貴志, 小牧宏文, 中川栄二, 須貝研司, 才津浩智, 藤田京志, et al. 遊走性焦点発作を伴う乳児てんかんにおける発作抑制期間と発達予後の関連. 脳と発達. 2019. 51. Suppl. S376-S376

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Professional career (1)：

博士(医学) (横浜市立大学)

Awards (2)：

2019/11 - 日本人類遺伝学会奨励賞
2016/03 - 横浜市立大学大学院医学研究科平成28年度大学院優秀論文賞

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