(Last updated : 2023-10-12 14:50:11)
  Shimojima Keiko
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Assistant Professor
■ Published papers
1. Original article  Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers 2023/10
2. 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
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. Original article  Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis 2023/03/02 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 GNAO1 variant identified in a patient with clinically diagnosed as cerebral palsy  2023/10/13
5. Potocki-Lupski Syndrome Family Association Support  2023/05/26
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■ Research areas
Embryonic medicine and pediatrics, Medical biochemistry 
■ Academic society memberships
1. 2008/05~ American Society of Human Genetics
2. 2007/04~ The Japan Society of Human Neurology
3. 2006/12~ The Japan Socitey of Human Genetics
4. 2002/05~ Japan Pediatric Society
■ Education
1. 2012/05
Degree Acquisition
Yokohama City University,
2. 1996/04~2002/03 Faculty of Medicine, Shinshu University, Graduated,