Personnel Information

写真a

MIYA Fuyuki


Job title

Junior Associate Professor

Laboratory Address

1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8510, Japan

Laboratory Phone number

+81-3-5803-4169

Laboratory Fax number

+81-3-5803-0182

Homepage URL

https://sites.google.com/site/fuyukimiya/

Research Areas, Keywords

Bioinformatics, Disease genetics, Statistics, Molecular biology, Neurology

Graduate School 【 display / non-display

  • University of Tsukuba, Graduate School, Division of Human Science, Doctor's Course, 2016.03, Completed

Degree 【 display / non-display

  • Ph.D in Medicine, University of Tsukuba

Campus Career 【 display / non-display

  • 2015.10
    -
    2017.07
    Tokyo Medical and Dental University, Medical Research Institute, Medical Genomics, Medical Science Mathematics, Assistant Professor
  • 2015.12
    -
    Now
    Tokyo Medical and Dental University, Graduate School of Medical and Dental Sciences, Life Science and Technology, Life Science and Technology, Medical Science Mathematics, Assistant Professor
  • 2017.08
    -
    Now
    Tokyo Medical and Dental University, Medical Research Institute, Medical Genomics, Medical Science Mathematics, Junior Associate Professor

Research Areas 【 display / non-display

  • Medical genome science

Qualification Acquired 【 display / non-display

  • Person in Charge of Poison and Deleterious Substance Handling

 

Published Papers & Misc 【 display / non-display

  • Nikopoulos Konstantinos, Cisarova Katarina, Quinodoz Mathieu, Koskiniemi-Kuendig Hanna, Miyake Noriko, Farinelli Pietro, Rehman Atta Ur, Khan Muhammad Imran, Prunotto Andrea, Akiyama Masato, Kamatani Yoichiro, Terao Chikashi, Miya Fuyuki, Ikeda Yasuhiro, Ueno Shinji, Fuse Nobuo, Murakami Akira, Wada Yuko, Terasaki Hiroko, Sonoda Koh-Hei, Ishibashi Tatsuro, Kubo Michiaki, Cremers Frans P. M., Kutalik Zoltan, Matsumoto Naomichi, Nishiguchi Koji M., Nakazawa Toru, Rivolta Carlo. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy NATURE COMMUNICATIONS. 2019.06; 10 (1): 2884. ( PubMed, DOI )

  • Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S. <i>MYCN</i> de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. Journal of medical genetics. 2018.12; ( PubMed, DOI )

  • Akiyama M, Takahashi A, Momozawa Y, Arakawa S, Miya F, Tsunoda T, Ashikawa K, Oshima Y, Yasuda M, Yoshida S, Enaida H, Tan X, Yanagi Y, Yasukawa T, Ogura Y, Nagai Y, Takahashi K, Fujisawa K, Inoue M, Arakawa A, Tanaka K, Yuzawa M, Kadonosono K, Sonoda KH, Ishibashi T, Kubo M. Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. Journal of human genetics. 2018.10; 63 (10): 1083-1091. ( PubMed, DOI )

  • Mutai Hideki, Miya Fuyuki, Shibata Hiroaki, Yasutomi Yasuhiro, Tsunoda Tatsuhiko, Matsunaga Tatsuo. Gene expression dataset for whole cochlea of Macaca fascicularis SCIENTIFIC REPORTS. 2018.10; 8 (1): 15554. ( PubMed, DOI )

  • Hori I*, Miya F* (*equal contribution), Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome JOURNAL OF HUMAN GENETICS. 2018.09; 63 (9): 957-963. ( PubMed, DOI )

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Conference Activities & Talks 【 display / non-display

  • Shinji Saitoh, Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Tatsuhiko Tsunoda, Naomichi Matsumoto, Tamotsu Yoshimori. Clinical heterogeneity of genetically confirmed nine patients with Vici syndrome. 14th Asian and Oceanian Congress of Child Neurology (AOCCN) 2017.05.11

  • Makiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, Masafumi Miyata, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh, Hiroki Kurahashi. Missense mutations in the PLK4 gene identified in a patient with autosomal recessive microcephaly and chorioretinopathy. The 66th Annual Meeting of the American Society of Human Genetics 2016.10.18

  • Fuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, Nobuhiko Okamoto, Shinji Saitoh, Mami Yamasaki, Daichi Shigemizu, Tetsuo Abe, Takashi Morizono, Keith A Boroevich, Kenjiro Kosaki, Yonehiro Kanemura, Tatsuhiko Tsunoda. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  • Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh. Combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway associated megalencephaly syndromes. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  • Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki. Homozygous ADCY5 mutation causes movement disorder with severe intellectual disability. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

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Patents 【 display / non-display

  • METHOD FOR SELECTING IPS CELL CLONE, AND METHOD FOR SELECTING GENE USED IN METHOD FOR SELECTING SAME

    Announcement Number: WO 2012/115270