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Nobuhiko Okamoto | doi.page

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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
→

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013)

178 cited

→ Phenotypic spectrum of CHARGE syndrome with CHD7 mutations(2006)166 cited

→ Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A(2014)163 cited

→ SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome(2017)160 cited