(Last updated : 2024-02-05 09:11:16)
  Toshiyuki Yamamoto
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Professor
■ Published papers
1. Original article  Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions 2024/02/01 Link
2. Case report  Rare mosaic variant of GJA1 in a patient with neurodevelopmental disorder 2024/01/15 Link
3. Original article  Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers 2024/01 Link
4. 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
5. Original article  Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 -associated syndrome 2023/07/01 Link
Display all(239)
■ 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