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Nobuhiko Okamoto | Researchclopedia

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Nobuhiko Okamoto

Osaka Women's and Children's Hospital ORCID

535

Works

13,977

Citations

62

h-index

278

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases

Affiliations

Tokyo Medical and Dental University2010–2010

Asahikawa Medical College Hospital2006–2006

University of Wisconsin–Madison2022–2022

Shinshu University2006–2006

Jichi Medical University1986–1986

Top Works

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori,Yoko Aoki,et al.

2006598 citations

Congenital heart defects research

RNA modifications and cancer

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki,Nobuhiko Okamoto,et al.

2012519 citations

Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

Yoko Aoki,Tetsuya Niihori,et al.

2013329 citations

Kabuki syndrome: international consensus diagnostic criteria

Margaret P Adam,Siddharth Banka,et al.

2018240 citations

KDM6A Point Mutations Cause Kabuki Syndrome

Noriko Miyake,Seiji Mizuno,et al.

2012217 citations

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

Atsushi Takata,Noriko Miyake,et al.

2018183 citations

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake,Eriko Koshimizu,et al.

2013178 citations

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Michihiko Aramaki,Toru Udaka,et al.

2006166 citations

Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in <i>SMARCB1</i>, <i>SMARCA4</i>, <i>SMARCE1</i>, and <i>ARID1A</i>

Tomoki Kosho,Nobuhiko Okamoto,et al.

2014163 citations