Rchr
J-GLOBAL ID:201901012675929703   Update date: Jan. 30, 2024

Murakami Hiroaki

Murakami Hiroaki
Affiliation and department:
Job title: 医長
Research field  (1): Genetics
Research theme for competitive and other funds  (1):
  • 2020 - 2023 ロングリードシークエンサーによる染色体構造異常症の切断点解析
Papers (30):
  • Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, Noriko Aida, Kenji Kurosawa. Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1. Journal of human genetics. 2024. 69. 1. 47-52
  • Naoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, Hiroaki Murakami, Azusa Ikeda, Tomohide Goto, Kenji Kurosawa. Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes. Molecular syndromology. 2022. 13. 3. 221-225
  • Yumi Enomoto, Takayuki Yokoi, Yoshinori Tsurusaki, Hiroaki Murakami, Makiko Tominaga, Mari Minatogawa, Chihiro Abe-Hatano, Yukiko Kuroda, Ikuko Ohashi, Kazumi Ida, et al. Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing. Clinical genetics. 2022. 101. 3. 335-345
  • 西村 直人, 熊木 達郎, 村上 博昭, 豊島 勝昭, 武内 俊樹, 小崎 健次郎, 黒澤 健司. 当院における重症新生児に対するゲノム解析の現状と課題. 日本小児科学会雑誌. 2022. 126. 2. 242-242
  • Ikuko Ohashi, Yukiko Kuroda, Yumi Enomoto, Hiroaki Murakami, Mitsuo Masuno, Kenji Kurosawa. 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability. Clinical dysmorphology. 2021. 30. 3. 139-141
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MISC (12):
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