Kazuharu Misawa

机构：RIKEN Center for Advanced Intelligence Project, Yokohama City University · ORCID：0000-0002-6277-4330

发表论文 89 篇 · 总被引 1321 次 · h-index 19

代表论文

• Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy (2023 · Life Science Alliance · 被引 19)
• Complete nanopore repeat sequencing of SCA27B (GAA- FGF14 ataxia) in Japanese (2024 · Journal of Neurology Neurosurgery & Psychiatry · 被引 16)
• Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders (2023 · Journal of Human Genetics · 被引 13)
• Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability (2024 · Journal of Human Genetics · 被引 11)
• A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities (2023 · Journal of Human Genetics · 被引 10)
• A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association (2023 · Scientific Reports · 被引 9)