Nobuhiko Okamoto
Osaka Women's and Children's Hospital(JP)National Cancer Center Hospital East(JP)Hakodate Central General Hospital(JP)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, RNA modifications and cancer
Most-Cited Works
- → Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome(2006)598 cited
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome(2013)329 cited
- → Kabuki syndrome: international consensus diagnostic criteria(2018)240 cited
- → KDM6A Point Mutations Cause Kabuki Syndrome(2012)217 cited
- → Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder(2018)183 cited
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