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HIRAIDE Takuya  平出 拓也

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Hiraide Takuya  平出 拓也

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Researcher Number 70783447
Other IDs
Affiliation (Current) 2025: 浜松医科大学, 医学部附属病院, 助教
Affiliation (based on the past Project Information) *help 2022 – 2023: 浜松医科大学, 医学部附属病院, 助教
Review Section/Research Field
Principal Investigator
Basic Section 52050:Embryonic medicine and pediatrics-related / 0902:General internal medicine and related fields
Keywords
Principal Investigator
AI / マルチオミクス解析 / RNA解析 / ゲノム解析
  • Research Projects

    (2 results)
  • Research Products

    (7 results)
  •  AIを活用したゲノム解析とRNA解析による神経発達症の新規遺伝学的解析スキームの創造Principal Investigator

    • Principal Investigator
      平出 拓也
    • Project Period (FY)
      2023 – 2024
    • Research Category
      Grant-in-Aid for Early-Career Scientists
    • Review Section
      Basic Section 52050:Embryonic medicine and pediatrics-related
    • Research Institution
      Hamamatsu University School of Medicine
  •  Elucidation of the pathogenesis of intellectual disability/developmental delay by multi-omics analysis using a novel analytical methodPrincipal Investigator

    • Principal Investigator
      Hiraide Takuya
    • Project Period (FY)
      2022 – 2023
    • Research Category
      Grant-in-Aid for Research Activity Start-up
    • Review Section
      0902:General internal medicine and related fields
    • Research Institution
      Hamamatsu University School of Medicine

All 2024 2023

All Journal Article Presentation

  • [Journal Article] Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome2024

    • Author(s)
      Hiraide Takuya、Hayashi Taiju、Ito Yusuke、Urushibata Rei、Uchida Hiroshi、Kitagata Ryoichi、Ishigaki Hidetoshi、Ogata Tsutomu、Saitsu Hirotomo、Fukuda Tokiko
    • Journal Title

      Frontiers in Pediatrics

      Volume: 12

    • DOI

      10.3389/fped.2024.1360867

    • Peer Reviewed / Open Access
    • Data Source
      KAKENHI-PROJECT-23K14944, KAKENHI-PROJECT-22K20852
  • [Journal Article] RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing2023

    • Author(s)
      Kawakami Ryota、Hiraide Takuya、Watanabe Kazuki、Miyamoto Sachiko、Hira Kota、Komatsu Kazuyuki、Ishigaki Hidetoshi、Sakaguchi Kimiyoshi、Maekawa Masato、Yamashita Keita、Fukuda Tokiko、Miyairi Isao、Ogata Tsutomu、Saitsu Hirotomo
    • Journal Title

      Journal of Human Genetics

      Volume: 69 Issue: 2 Pages: 91-99

    • DOI

      10.1038/s10038-023-01211-8

    • Peer Reviewed
    • Data Source
      KAKENHI-PROJECT-23K14944, KAKENHI-PROJECT-22K20852, KAKENHI-PROJECT-23K27566
  • [Presentation] TPRKB遺伝子に新規病的バリアントを同定したGalloway-Mowat syndromeの1例2024

    • Author(s)
      平出拓也、林泰壽、伊藤祐介、漆畑怜、内田博之、北形綾一、石垣英俊、緒方勤、才津浩智、福田冬季子
    • Organizer
      第66回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-23K14944
  • [Presentation] TPRKB遺伝子に新規病的バリアントを同定したGalloway-Mowat syndromeの1例2024

    • Author(s)
      平出拓也、林泰壽、伊藤祐介、漆畑怜、内田博之、北形綾一、石垣英俊、緒方勤、才津浩智、福田冬季子
    • Organizer
      第66回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-22K20852
  • [Presentation] RYR1にミスセンスバリアントを認めた軽微な運動後筋痛のみを示す高CK血症の家族例2023

    • Author(s)
      平出 拓也 , 吉岡 和香子 , 伊藤 祐介 , 漆畑 伶 , 林 泰壽 , 石垣 英俊 , 西野 一三 , 福田 冬季子
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-23K14944
  • [Presentation] RYR1にミスセンスバリアントを認めた軽微な運動後筋痛のみを示す高CK血症の家族例2023

    • Author(s)
      平出 拓也 , 吉岡 和香子 , 伊藤 祐介 , 漆畑 伶 , 林 泰壽 , 石垣 英俊 , 西野 一三 , 福田 冬季子
    • Organizer
      第65回日本小児神経学会学術集会
    • Data Source
      KAKENHI-PROJECT-22K20852
  • [Presentation] A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome2023

    • Author(s)
      Takuya Hiraide, Kenji Shimizu, Yoshinori Okumura, Sachiko Miyamoto, Mitsuko Nakashima, Tsutomu Ogata, Hirotomo Saitsu
    • Organizer
      日本人類遺伝学会第68回大会
    • Data Source
      KAKENHI-PROJECT-23K14944

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