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