横浜市立大学 · 附属市民総合医療センター · 助教

研究关键词repeat expansion disorders・NOTCH2NLC GGC repeat expansion・neuronal intranuclear inclusion disease・DNA methylation profiling・long-read sequencing・benign adult familial myoclonic epilepsy・SAMD12 repeat expansion・intellectual disability genomics・developmental delay genomics・hereditary spastic paraplegia

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• Genomics論文
• Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing論文
• Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias論文
• npj Genomic Medicine論文

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