Rchr
J-GLOBAL ID:200901013402109311   Update date: Jul. 04, 2024

Kumiko Yanagi

ヤナギ クミコ | Kumiko Yanagi
Affiliation and department:
Job title: Chief
Research field  (4): Genetics ,  Oral medicine (pathology) ,  Genetics ,  Molecular biology
Research keywords  (5): Genomic Diagnosis ,  Craniofacial Rare disease ,  Undiagnosed rare disease ,  massive genome analysis ,  分子遺伝学
Research theme for competitive and other funds  (22):
  • 2024 - 2027 口腔領域遺伝性疾患の新規原因発見を目指した全ゲノムシーケンスデータ解析基盤の開発
  • 2023 - 2024 原因不明の小児突然死の包括的死因検索を実現するための研究
  • 2020 - 2023 薬剤性難聴の感受性遺伝子検索による個人差および発症機序の解明
  • 2020 - 2023 MAP3K7遺伝子変異に起因する骨異形疾患における表現型異質性発症機序の解明
  • 2022 - 2023 多施設において小児突然死の包括的死因検索を実現するためのパイロット研究
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Papers (86):
  • Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E. Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname, Hiromi Hirata. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures. Journal of Human Genetics. 2024
  • Wataru Shimabukuro, Yasutsugu Chinen, Naoya Imanaga, Kumiko Yanagi, Tadashi Kaname, Koichi Nakanishi. Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1. Pediatric nephrology (Berlin, Germany). 2024
  • Kensuke Ikeda, Ayane Tamagake, Takafumi Kubota, Rumiko Izumi, Tatsuo Yamaguchi, Kumiko Yanagi, Tatsuro Misu, Yoko Aoki, Tadashi Kaname, Masashi Aoki. Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup. Cerebellum (London, England). 2024
  • Eriko Nishi, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto. Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants. Molecular genetics & genomic medicine. 2024. 12. 2. e2396
  • Atsushi Hijikata, Mikita Suyama, Shingo Kikugawa, Ryo Matoba, Takuya Naruto, Yumi Enomoto, Kenji Kurosawa, Naoki Harada, Kumiko Yanagi, Tadashi Kaname, et al. Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing. Nucleic acids research. 2024. 52. 1. 114-124
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MISC (43):
  • 竹内 一朗, 柳 久美子, 高田 修治, 内山 徹, 五十嵐 ありさ, 本村 健一郎, 林 優佳, 長野 直子, 松岡 諒, 杉山 弘樹, et al. リンパ濾胞過形成を伴う好酸球性消化管疾患の発症に関与する新規STAT6機能獲得型変異. 日本小児栄養消化器肝臓学会雑誌. 2023. 37. 1. 48-49
  • Kumiko Yanagi, Eriko Nishi, Arisa Igarashi, Maki Omata, Yukimi Abe, Nana Kobayashi, Kazuhito Satou, Kanako Ishii, Nobuhiko Okamoto, Yoichi Matsubara, et al. Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants. EUROPEAN JOURNAL OF HUMAN GENETICS. 2022. 30. SUPPL 1. 156-156
  • 柳下 友映, 平出 拓也, 舟塚 真, 遠藤 雄策, 福田 冬希子, 山本 圭子, 宮本 雄策, 柳 久美子, 要 匡, 永田 智, et al. 日本人4人のHECW2変異に起因する障害の検討. 脳と発達. 2021. 53. Suppl. S294-S294
  • 内田 佳子, 植松 悟子, 小崎 里華, 柳 久美子, 富田 慶一, 安田 真人, 天笠 俊介, 大西 志麻, 多賀谷 貴史, 佐々木 隆司, et al. 当院における院外心停止症例に対する死因究明体制. 日本小児科学会雑誌. 2021. 125. 2. 236-236
  • 要 匡, 内田 佳子, 柳 久美子, 大西 志麻, 富田 慶一, 安田 真人, 天笠 俊介, 多賀谷 貴史, 佐々木 隆司, 小崎 里華, et al. 突然死症例に対する網羅的ゲノム解析の有用性. 日本小児科学会雑誌. 2021. 125. 2. 236-236
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Books (1):
  • Online eBook Library : Nelson Textbook of Pediatrics, 21st ed.
    ELSEVIER 2021
Lectures and oral presentations  (5):
  • A novel mechanism for developing multiple allergic symptoms including severe atopic dermatitis, food allergy, asthma, and eosinophilic gastroenteritis, and a potential for development of molecular targeted drug
    (2023)
  • Clinical features and molecular characterization of three Japanese patients with autosomal dominant Robinow syndrome caused by DVL3 variants.
    (European Society of Human Genetics 2021 2021)
  • A novel variant located within guanine nucleotide-binding site of GNAI3
    (American Society of Human Genetics 2020 2020)
  • A patient with cardiospondylocarpofacial syndrome caused by dominant negative effect of a novel variant in MAP3K7.
    (American Society of Human Genetics 2019 2019)
  • 次世代シーケンサーを用いた実際の業務と今後の課題・展望
    (第35回日本染色体遺伝子検査学会学術集会シンポジウム 2017)
Professional career (1):
  • Doctor of Dental Science (The University of Tokushima)
Work history (6):
  • 2024/01 - 現在 National Center for Child Health and Development Division of Clinical Applied Genomics, Department of Genome Medicine Chief
  • 2010/04 - University of the Ryukyus Graduate School of Medicine Instructor
  • 2003/04 - 琉球大学 医学部 医学科 助手
  • 2001/07 - Imperial College London Dept.of Biol.and Biochem Posdoc
  • 1997/07 - The University of Tokushima Faculty of Dentistry research assistant
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Association Membership(s) (4):
European Society of Human Genetics ,  Japanese Society for Gene Diagnosis and Therapy ,  The Molecular Biology Society of Japan ,  The Japan Society of Human Genentics
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