Rchr
J-GLOBAL ID：201801017548666374   Update date: Nov. 15, 2024

Nobuhiko Okamoto

オカモト ノブヒコ | Nobuhiko Okamoto
Affiliation and department：
Osaka Women’s and Children’s Hospital Department of Medical Genetics

About Osaka Women’s and Children’s Hospital Department of Medical Genetics


Research field  (1)： Genetics
Research keywords  (5)： 希少未診断疾患 ,  先天性グリコシル化異常症 ,  先天異常学 ,  神経遺伝学 ,  臨床遺伝学
Research theme for competitive and other funds  (9)：
  • 2022 - 2025 Health inequality among children and an application of universal approach to parenting supports.
  • 2008 - 2010 Analysis of neuropathogenesis for autism spectrum disorders caused by mutation of SHANK3 gene.
  • 2008 - 2010 New diagnostic approach for malformation syndromes and genome-wide search for syndrome specific genome imbalance using DNA microarray
  • 2008 - 2010 Understanding of pathogenesis of autism and development of its therapeutic way based on epigenomic information
  • 2007 - 2010 Basic Research on Congenital Disorders of Glycosylation (CDG)
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Papers (377)：
  • Daisuke Watanabe, Nobuhiko Okamoto, Yuichi Kobayashi, Hisato Suzuki, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Toshiki Takenouchi, Mamiko Yamada, Daisuke Nakato, et al. Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis. Scientific reports. 2024. 14. 1. 19741-19741
  • Kenichiro Sadamitsu, Kumiko Yanagi, Yuiko Hasegawa, Yoshiko Murakami, Sean E. Low, Daikun Ooshima, Yoichi Matsubara, Nobuhiko Okamoto, Tadashi Kaname (Corresponding author), Hiromi Hirata (Corresponding author). 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
  • Yuri Sonoda, Atsushi Fujita, Michiko Torio, Takahiko Mukaino, Ayumi Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Yuko Ichimiya, Pin Fee Chong, et al. Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature. European Journal of Medical Genetics. 2024. 67
  • Yuri Sonoda, Atsushi Fujita, Michiko Torio, Takahiko Mukaino, Ayumi Sakata, Masaru Matsukura, Kousuke Yonemoto, Ken Hatae, Yuko Ichimiya, Pin Fee Chong, et al. Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature. European journal of medical genetics. 2024. 67. 104895-104895
  • 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
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MISC (240)：
  • 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, 山本 圭子, 西 恵理子, チョン・ピンフィー, 山田 博之, 永田 智, 岡本 伸彦, 山本 俊至. 日本人Potocki-Lupski症候群7症例の臨床症状. 脳と発達. 2021. 53. 6. 456-461
  • 細木 華奈, 西谷 嵩平, 山田 俊哉, 岡本 伸彦, 川本 祥子. 遺伝医学におけるデータシェアリングの活用について. 大阪母子医療センター雑誌. 2021. 37. 1. 7-16
  • 上松 節子, 山西 整, 植田 紀美子, 大西 有理[山元], 井上 直子, 藤林 えみ, 桐越 晶子, 大槻 浩一, 岡本 伸彦. 歌舞伎症候群の臨床症状と顎顔面形態について. 大阪母子医療センター雑誌. 2021. 37. 1. 22-30
  • 岡本 伸彦. Learning 遺伝性疾患(遺伝病)を学ぶ Coffin-Siris症候群とBAF複合体. 遺伝子医学. 2021. 11. 4. 96-101
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Education (1)：
  • 1984 - Jichi Medical University
Association Membership(s) (7)：
日本小児遺伝学会 ,  欧州人類遺伝学会 ,  米国人類遺伝学会 ,  日本小児科学会 ,  日本小児神経学会 ,  日本先天異常学会 ,  日本人類遺伝学会
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