Okamoto, Nobuhiko

Top Publications

Top Publications Authored or Co-Authored by "Okamoto, Nobuhiko"

• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

  Nature Genetics, Volume 49, No. 2, Year 2017, Citations 89
• Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

  Journal of Human Genetics, Volume 64, No. 12, Year 2019, Citations 79
• Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

  Genetics in Medicine, Volume 23, No. 7, Year 2021, Citations 44
• Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome

  American Journal of Medical Genetics, Part A, Volume 170, No. 10, Year 2016, Citations 15