(Last updated : 2025-06-23 20:36:18)
  YAMAMOTO Toshiyuki
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Professor
■ Books
1. Chapter contribution  Chapter 24: Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design, Cerebral Cortex Development-Methods and Protocols 2024/04/01 Link
■ Published papers
1. Review article  Challenges in genetic counseling for RYR1-related myopathies 2025/06/01
2. Original article  Unique DUP-TRP/INV-DUP structure detected by long-read sequencing 2025/03/12
3. Original article  Blepharophimosis with Intellectual Disability (BIS) and Helsmoortel-Van Der Aa Syndrome (HVDAS) share episignature and phenotype 2024/12 Link
4. Original article  An adult female case with Fabry disease reffered to the genetic counseling who was happen to have Mulberry cells by routine health checkup. 2024/10/31
5. Original article  Glass syndrome derived from chromosomal breakage downstream region of SATB2 2024/10/01 Link
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■ Academic conference presentation
1. Case of extra marker chromosome 15 missed at unlicensed NIPT facility (ポスター掲示,一般) 2025/06/06
2. A boy with a novel variant in the ANO3 gene with developmental regression and ataxia (ポスター掲示,一般) 2025/06/05
3. Investigating the utility of serum NfL as a biomarker for macrocephalic type with subcortical cysts (口頭,一般) 2025/06/05
4. Mechanism of megacephalic leukoencephalopathy with subcortical cysts(MLC) using genome editing technology (ポスター掲示,一般) 2025/06/05
5. A novel RYR1 variant in a congenital myopathy patient is associated with autosomal recessive trait (ポスター掲示,一般) 2024/10/12
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■ Research areas
Embryonic medicine and pediatrics 
■ Education
1. 1983/04~1989/03 Faculty of Medicine, Tottori University, Graduated,
■ Academic & professional experience
1. 2017/07 Professor
2. 2017/07~ Professor
3. 2010/04~ Tokyo Women's Medical University Institute for Integrated Medical Sciences Associate Professor
4. 2006/01~2008/03 Lecturer
■ Rsearch funding number
20252851