Satoko Miyatake

机构：Shiga University of Medical Science, Shiga University, Yokohama City University Hospital, Yokohama City University · ORCID：0000-0001-7587-5168

发表论文 280 篇 · 总被引 8513 次 · h-index 50

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)
• An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation (2026 · Science Immunology · 被引 3)
• A Novel Synonymous Variant in SQSTM1 Causes Neurodegeneration With Ataxia, Dystonia, and Gaze Palsy Revealed by Urine‐Derived Cells‐Based Functional Analysis (2024 · Molecular Genetics & Genomic Medicine · 被引 3)
• 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)
• Biallelic missense CEP55 variants cause prenatal MARCH syndrome (2024 · Journal of Human Genetics · 被引 2)