Eriko Koshimizu

机构：Yokohama City University · ORCID：0000-0001-9947-3315

发表论文 135 篇 · 总被引 3992 次 · h-index 35

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)
• Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities (2024 · npj Genomic Medicine · 被引 4)
• Hemizygous SMARCA1 variants cause X-linked intellectual disability (2025 · Journal of Human Genetics · 被引 2)
• Clinical and genetic spectrum of patients with IRF2BPL syndrome (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)
• Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders (2025 · Journal of Human Genetics · 被引 1)