Rchr
J-GLOBAL ID：201601010507763153   Update date: Feb. 01, 2024

Shimojima Yamamoto Keiko

シモジマ ケイコ | Shimojima Yamamoto Keiko
Affiliation and department：
東京女子医科大学 輸血・細胞プロセシング科

About 東京女子医科大学 輸血・細胞プロセシング科


Job title： 助教
Research field  (1)： Genetics
Research theme for competitive and other funds  (6)：
  • 2017 - 2021 iPS細胞を用いた小児神経発達障害におけるシナプス病態の理解
  • 2017 - 2021 Elucidation of the pathophysiology of neurodevelopmental disorders by evaluating nerve cell network function
  • 2015 - 2018 Establishment of heredital desease models using iPS cells and genome editing
  • 2015 - 2018 Elucidation of synaptic dysfunctions in patients with developmental disorder
  • 2012 - 2017 elucidation of a mechanism of developmental disorder caused genome copy number aberration
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Papers (177)：
  • Rina Shimomura, Tomoe Yanagishita, Kumiko Ishiguro, Minobu Shichiji, Takatoshi Sato, Keiko Shimojima Yamamoto, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Keiko Ishigaki, et al. Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder. Human genome variation. 2024. 11. 1. 2-2
  • Aya Yamazaki, Tomoko Kuroda, Nami Kawasaki, Keiichi Kato, Keiko Shimojima Yamamoto, Takeshi Iwasa, Akira Kuwahara, Yuka Taniguchi, Toshiyuki Takeshita, Yosuke Kita, et al. Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers. Journal of human genetics. 2023
  • Keiko Shimojima Yamamoto, Takeaki Tamura, Nobuhiko Okamoto, Eriko Nishi, Atsuko Noguchi, Ikuko Takahashi, Yukio Sawaishi, Masaki Shimizu, Hitoshi Kanno, Yohei Minakuchi, et al. Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns. Journal of human genetics. 2023
  • Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura, et al. Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis. Human genome variation. 2023. 10. 1. 8-8
  • Kaoru Eto, Osamu Machida, Tomoe Yanagishita, Keiko Shimojima Yamamoto, Kentaro Chiba, Yasuo Aihara, Yuuki Hasegawa, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, et al. Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis. Human genome variation. 2022. 9. 1. 43-43
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MISC (23)：
  • 山本俊至, 山本俊至, 下島圭子, 下島圭子, 菅野仁, 菅野仁, 斎藤加代子. クリニカルシーケンスデータによる遺伝子変異とゲノムコピー数変異の同時網羅的スクリーニング. 日本遺伝子診療学会大会プログラム・抄録集. 2016. 23rd
  • 濱谷美緒, 陣上直人, 鶴崎美徳, 島田姿野, 下島圭子, 吉永健二, 上村紀仁, 山下博史, 植村健吾, 植村健吾, et al. AARS2の遺伝子新規複合ヘテロ変異を認めた,無月経を合併する成人発症の白質ジストロフィーの1例. 臨床神経学(Web). 2015. 55. 11. 865(J-STAGE)-865
  • 山本 俊至, 島田 姿野, 下島 圭子, 松尾 真理, 平澤 恭子, 前垣 義弘, 今井 克美, 岡本 伸彦. 非典型的な欠失範囲を示す1p36欠失症候群患者の臨床症状の検討 Genotype-phenotype関連解析. 脳と発達. 2013. 45. Suppl. S312-S312
  • 植田 佑樹, 今井 克美, 保立 麻美子, 山口 解冬, 那須 裕郷, 高山 留美子, 大谷 英之, 池田 浩子, 重松 秀夫, 高橋 幸利, et al. STXBP1関連てんかん脳症のてんかんおよび神経学的所見の経時的変化. 脳と発達. 2013. 45. Suppl. S350-S350
  • Eto Kaoru, Sakauchi Masako, Shimada Shino, Ohtani Yui, Shioda Mutsuki, Ishigaki Keiko, Shimojima Keiko, Yamamoto Toshiyuki, Oguni Hirokazu, Osawa Makiko. A Case Report of MECP2 Duplication Syndrome with Epileptic Spasms. Journal of Tokyo Women's Medical College. 2013. 83. 1. E250-E254
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Education (1)：
  • - 2002 Shinshu University School of Medicine
Professional career (1)：
  • 医学博士 (横浜市立大学)
Work history (4)：
  • 2020/05 - 現在 Tokyo Women's Medical University
  • 2010/04 - 現在 Tokyo Women's Medical University
  • 2017/04 - 2020/04 日本学術振興会特別研究員RPD
  • 2010/10 - 2017/02 Japan Science and Technology Agency
Awards (2)：
  • 2014/07 - 日本先天異常学会 奨励賞
  • 2011/05 - 日本小児神経学会 優秀論文賞
Association Membership(s) (5)：
THE JAPANESE TERATOLOGY SOCIETY ,  THE JAPANESE SOCIETY FOR GENETIC COUNSELING ,  THE JAPAN SOCIETY OF HUMAN GENETICS ,  The Japanese Society Of Child Neurology ,  JAPAN PEDIATRIC SOCIETY
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