Kohei Hamanaka

机构：Yokohama City University · ORCID：0000-0001-5179-331X

发表论文 114 篇 · 总被引 3079 次 · h-index 29

代表论文

• 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 missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association (2023 · Scientific Reports · 被引 9)
• Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias (2023 · Journal of Human Genetics · 被引 7)
• Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay (2025 · npj Genomic Medicine · 被引 6)