Hitoshi Osaka

机构：Jichi Medical University, Jichi Medical University Hospital · ORCID：0000-0002-1320-1165

发表论文 338 篇 · 总被引 9468 次 · h-index 49

代表论文

• Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay (2025 · npj Genomic Medicine · 被引 6)
• Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances (2025 · Brain and Development · 被引 2)
• School Refusal Behavior in Japan: The Impact of COVID-19 on Children (2025 · Children · 被引 2)
• Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts (2025 · Scientific Reports · 被引 2)
• Hemizygous SMARCA1 variants cause X-linked intellectual disability (2025 · Journal of Human Genetics · 被引 2)
• Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery (2026 · npj Genomic Medicine · 被引 1)