(Last updated : 2023-09-05 15:05:09)
  Toshiyuki Yamamoto
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Professor
■ Published papers
1. 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
2. Original article  Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 -associated syndrome 2023/07/01 Link
3. Case report  Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C 2023/06 Link
4. Original article  Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns 2023/06
5. Case report  A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. 2023/04/22 Link
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■ Academic conference presentation
1. Potocki-Lupski Syndrome Family Association Support  2023/05/26
2. Two cases of microdeletion of 3p14 containing MAGl1  2023/05/26
3. Consideration on the severity of central nervous system and muscular disorders caused by HECW2 mutation  2022/12/17
4. Need for revision of the ACMG/AMP guidelines for interpretation of X-linked variants  2022/12/16
5. 14q13 microdeletion containing NKX2-1 is associated with intellectual disability: Report of three cases  2022/12/15
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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