FUJITA Atsushi

フジタアツシ | FUJITA Atsushi

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 (111)：

Atsushi Fujita, Yuta Suenaga, Eri Takeshita, Yuji Takahashi, Yuichi Suzuki, Sachiko Ohori, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Satoko Miyatake, et al. Triple mosaic variants of PURA in a patient with multiple congenital anomalies. Journal of human genetics. 2025
河合泰寛, 竹下絵里, 須貝研司, 山本薫, 馬場信平, 住友典子, 本橋裕子, 齋藤貴志, 小牧宏文, 中川栄二, et al. 緩徐進行性に痙性四肢麻痺を来したADARバリアントによる遅発型のAicardi-Goutieres症候群. 脳と発達. 2025. 57. 1. 34-38
Simo Li, Sanami Takada, Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, Maha S. Zaki, Mahmoud Y. Issa, Aida M. S. Salem, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, et al. Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities. npj Genomic Medicine. 2024. 9. 1
Li Fu, Yuka Yamamoto, Rie Seyama, Nana Matsuzawa, Mariko Nagaoka, Takashi Yao, Keisuke Hamada, Kazuhiro Ogata, Toshifumi Suzuki, Naomi Tsuchida, et al. Biallelic missense CEP55 variants cause prenatal MARCH syndrome. Journal of human genetics. 2024
Sebastián Silva, Mónica Rosas, Benjamín Guerra, Marión Muñoz, Atsushi Fujita, Masamune Sakamoto, Naomichi Matsumoto. Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report. Brain & development. 2024. 46. 7. 250-253

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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)：

Awards (2)：

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