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J-GLOBAL ID:202101010329150606   Update date: Feb. 19, 2025

Oishi Kimihiko

オオイシ キミヒコ | Oishi Kimihiko
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Affiliation and department:
Job title: Professor
Other affiliations (1):
  • Icahn School of Medicine at Mount Sinai  Department of Genetics and Genomic Medicine
Research field  (4): Fetal medicine/Pediatrics ,  Metabolism and endocrinology ,  Genetics ,  Cell biology
Research keywords  (5): Genetic Disorders ,  Citrin Deficiency ,  RNA binding protein ,  Urea Cycle Disorders ,  Inborn Errors of Metabolism
Research theme for competitive and other funds  (2):
  • 2022 - 2025 TARP症候群のiPS細胞および動物モデルを用いた神経学的症状の病態解明
  • 1998 - 1999 セロイドリポフスシノーシスと脳老化機序の分子生物学的研究
Papers (54):
  • Shuntaro Terayama, Masahisa Kobayashi, Tokumasa Suemitsu, Osamu Samura, Kimihiko Oishi. Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child. Cureus. 2025
  • Hikaru Nishida, Eri Imagawa, Toshiki Tsunogai, Naoya Saijo, Jin Ogata, Ken Sakurai, Kimihiko Oishi. A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant. Pediatrics International. 2025
  • Ryota Kobayashi, Yukitoshi Tanabe, Tatsuya Hirotsu, Yuichiro Nonaka, Kimihiko Oishi, Masaharu Akiyama. Effective Treatment With Oral Propranolol for Congenital Intracranial Hemangioma in a Neonate: A Case Report and Literature Review. Cureus. 2024
  • 大石 公彦. 【産婦人科医が知っておくべき新生児マススクリーニング】総論 拡大新生児マススクリーニング開始までに至る背景,現状と展望. 産婦人科の実際. 2024. 73. 7. 643-647
  • Shuhei Sako, Kimihiko Oishi, Hiroyuki Ida, Eri Imagawa. Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population. Human Genome Variation. 2024. 11. 1
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MISC (2):
  • 大川 佑花, 大場 温子, 野々山 葉月, 角皆 季樹, 今川 英里, 堀向 健太, 和田 靖之, 菊池 敦生, 村上 良子, 大石 公彦. 全ゲノム解析でPIGW遺伝子変異により診断した先天性GPI欠損症の男児例. 日本小児科学会雑誌. 2024. 128. 2. 371-371
  • 高見 遥, 日暮 憲道, 角皆 季樹, 菊池 敦生, 篠崎 梓, 樋渡 えりか, 今川 英里, 大石 公彦. 全般強直発作にPERが著効したSTXBP1欠失による発達性てんかん性脳症の11歳男子例. 脳と発達. 2023. 55. Suppl. S288-S288
Education (1):
  • 1988 - 1994 The Jikei University School of Medicine
Professional career (1):
  • 医学博士
Work history (9):
  • 2021/08 - 現在 The Jikei University School of Medicine
  • 2021/08 - 現在 Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences Adjunct Associate Professor
  • 2014/07 - 2021/07 Icahn School of Medicine at Mount Sinai Departments of Pediatrics, Genetics and Genomic Sciences Assistant Professor and Attending Physician
  • 2012/07 - 2014/06 Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences Medical Genetics Fellow
  • 2009/07 - 2012/06 Mount Sinai School of Medicine Department of Pediatrics Pediatric Resident
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Awards (7):
  • 2018 - Rare Diseases Clinical Research Network funded by NIH Rare Disease Clinical Research Training Program Scholar
  • 2017 - Urea Cycle Disorder Consortium Fellowship
  • 2013 - Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai Judith P. Wilner Fellow of the Year Award
  • 2012 - Mount Sinai School of Medicine Kurt Hirschhorn M.D. Clinician-Scientist Award
  • 2005 - Eastern Society for Pediatric Research Young Investigator Award
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