Works matching AU Atsushi Fujita


Results: 129
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    Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes.

    Published in:
    Translational Psychiatry, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41398-022-02033-6
    By:
    • Kimura, Hiroki;
    • Nakatochi, Masahiro;
    • Aleksic, Branko;
    • Guevara, James;
    • Toyama, Miho;
    • Hayashi, Yu;
    • Kato, Hidekazu;
    • Kushima, Itaru;
    • Morikawa, Mako;
    • Ishizuka, Kanako;
    • Okada, Takashi;
    • Tsurusaki, Yoshinori;
    • Fujita, Atsushi;
    • Miyake, Noriko;
    • Ogi, Tomoo;
    • Takata, Atsushi;
    • Matsumoto, Naomichi;
    • Buxbaum, Joseph;
    • Ozaki, Norio;
    • Sebat, Jonathan
    Publication type:
    Article
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    Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 5, p. 590, doi. 10.1111/cge.14292
    By:
    • Inoue, Yuta;
    • Tsuchida, Naomi;
    • Okamoto, Nobuhiko;
    • Shuichi, Shimakawa;
    • Ohashi, Kei;
    • Saitoh, Shinji;
    • Ogawa, Atsushi;
    • Hamada, Keisuke;
    • Sakamoto, Masamune;
    • Miyake, Noriko;
    • Hamanaka, Kohei;
    • Fujita, Atsushi;
    • Koshimizu, Eriko;
    • Miyatake, Satoko;
    • Mizuguchi, Takeshi;
    • Ogata, Kazuhiro;
    • Uchiyama, Yuri;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 6, p. 722, doi. 10.1111/cge.14066
    By:
    • Saida, Ken;
    • Tamaoki, Junya;
    • Sasaki, Masayuki;
    • Haniffa, Muzhirah;
    • Koshimizu, Eriko;
    • Sengoku, Toru;
    • Maeda, Hiroki;
    • Kikuchi, Masahiro;
    • Yokoyama, Haruna;
    • Sakamoto, Masamune;
    • Iwama, Kazuhiro;
    • Sekiguchi, Futoshi;
    • Hamanaka, Kohei;
    • Fujita, Atsushi;
    • Mizuguchi, Takeshi;
    • Ogata, Kazuhiro;
    • Miyake, Noriko;
    • Miyatake, Satoko;
    • Kobayashi, Makoto;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia.

    Published in:
    Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423
    By:
    • Uchiyama, Yuri;
    • Yanagisawa, Kunio;
    • Kunishima, Shinji;
    • Shiina, Masaaki;
    • Ogawa, Yoshiyuki;
    • Nakashima, Mitsuko;
    • Hirato, Junko;
    • Imagawa, Eri;
    • Fujita, Atsushi;
    • Hamanaka, Kohei;
    • Miyatake, Satoko;
    • Mitsuhashi, Satomi;
    • Takata, Atsushi;
    • Miyake, Noriko;
    • Ogata, Kazuhiro;
    • Handa, Hiroshi;
    • Matsumoto, Naomichi;
    • Mizuguchi, Takeshi
    Publication type:
    Article
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    A novel NONO variant that causes developmental delay and cardiac phenotypes.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27770-6
    By:
    • Itai, Toshiyuki;
    • Sugie, Atsushi;
    • Nitta, Yohei;
    • Maki, Ryuto;
    • Suzuki, Takashi;
    • Shinkai, Yoichi;
    • Watanabe, Yoshihiro;
    • Nakano, Yusuke;
    • Ichikawa, Kazushi;
    • Okamoto, Nobuhiko;
    • Utsuno, Yasuhiro;
    • Koshimizu, Eriko;
    • Fujita, Atsushi;
    • Hamanaka, Kohei;
    • Uchiyama, Yuri;
    • Tsuchida, Naomi;
    • Miyake, Noriko;
    • Misawa, Kazuharu;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko
    Publication type:
    Article
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    A novel NONO variant that causes developmental delay and cardiac phenotypes.

    Published in:
    Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-27770-6
    By:
    • Itai, Toshiyuki;
    • Sugie, Atsushi;
    • Nitta, Yohei;
    • Maki, Ryuto;
    • Suzuki, Takashi;
    • Shinkai, Yoichi;
    • Watanabe, Yoshihiro;
    • Nakano, Yusuke;
    • Ichikawa, Kazushi;
    • Okamoto, Nobuhiko;
    • Utsuno, Yasuhiro;
    • Koshimizu, Eriko;
    • Fujita, Atsushi;
    • Hamanaka, Kohei;
    • Uchiyama, Yuri;
    • Tsuchida, Naomi;
    • Miyake, Noriko;
    • Misawa, Kazuharu;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko
    Publication type:
    Article
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    De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 1, p. 69, doi. 10.1093/hmg/ddab224
    By:
    • Sakamoto, Masamune;
    • Sasaki, Kazunori;
    • Sugie, Atsushi;
    • Nitta, Yohei;
    • Kimura, Tetsuaki;
    • Gürsoy, Semra;
    • Cinleti, Tayfun;
    • Iai, Mizue;
    • Sengoku, Toru;
    • Ogata, Kazuhiro;
    • Suzuki, Atsushi;
    • Okamoto, Nobuhiko;
    • Iwama, Kazuhiro;
    • Tsuchida, Naomi;
    • Uchiyama, Yuri;
    • Koshimizu, Eriko;
    • Fujita, Atsushi;
    • Hamanaka, Kohei;
    • Miyatake, Satoko;
    • Mizuguchi, Takeshi
    Publication type:
    Article
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    Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 20, p. 10913, doi. 10.3390/ijms222010913
    By:
    • Kamimura, Ryouta;
    • Uchida, Daisuke;
    • Kanno, Shin-ichiro;
    • Shiraishi, Ryo;
    • Hyodo, Toshiki;
    • Sawatani, Yuta;
    • Shimura, Michiko;
    • Hasegawa, Tomonori;
    • Tsubura-Okubo, Maki;
    • Yaguchi, Erika;
    • Komiyama, Yuske;
    • Fukumoto, Chonji;
    • Izumi, Sayaka;
    • Fujita, Atsushi;
    • Wakui, Takahiro;
    • Kawamata, Hitoshi
    Publication type:
    Article
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    Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w
    By:
    • Hamanaka, Kohei;
    • Miyake, Noriko;
    • Mizuguchi, Takeshi;
    • Miyatake, Satoko;
    • Uchiyama, Yuri;
    • Tsuchida, Naomi;
    • Sekiguchi, Futoshi;
    • Mitsuhashi, Satomi;
    • Tsurusaki, Yoshinori;
    • Nakashima, Mitsuko;
    • Saitsu, Hirotomo;
    • Yamada, Kohei;
    • Sakamoto, Masamune;
    • Fukuda, Hiromi;
    • Ohori, Sachiko;
    • Saida, Ken;
    • Itai, Toshiyuki;
    • Azuma, Yoshiteru;
    • Koshimizu, Eriko;
    • Fujita, Atsushi
    Publication type:
    Article
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