(Last updated : 2024-04-12 08:36:03)
  Toshiyuki Yamamoto
   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 2024/03/08
■ Published papers
1. Original article  Identification of PTGIS rare variants in patients with Williams syndrome and severe peripheral pulmonary stenosis 2024/03/01
2. Original article  Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions 2024/02/03 Link
3. Case report  Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15 Link
4. Original article  Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers 2024/01 Link
5. Case report  Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features 2023/08/07 Link
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■ Academic conference presentation
1. A rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder  2023/10/14
2. Homozygous KCTD3 nonsense variant due to UPD associated with syndromic developmental epileptic encephalopathy  2023/10/14
3. Type 2 congenital generalized lipodystrophy by NOTCH2 variant  2023/10/14
4. A novel FBN1 variant associated with mild cardiac phenotype of neonatal Marfan syndrome  2023/10/13
5. A novel GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy  2023/10/13
Display all(64)
■ 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