Okamoto, Nobuhiko

22q13 Microduplication in two patients with common clinical manifestations: a recognizable syndrome?

Okamoto, N., Kubota, T., Nakamura, Y., Murakami, R., Nishikubo, T., Tanaka, I., Takahashi, Y., Hayashi, S., Imoto, I., Inazawa, J., et al. (2007) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 117

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 107

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Kosho, T., Okamoto, N., Ohashi, H., Tsurusaki, Y., Imai, Y., Hibi‐Ko, Y., Kawame, H., Homma, T., Tanabe, S., Kato, M., et al. (2013) · American Journal of Medical Genetics Part A

Chromatin Remodeling and CancerGenetics and Neurodevelopmental Disorders

Cited by 101

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Shimizu, K., Okamoto, N., Miyake, N., Taira, K., Sato, Y., Matsuda, K., Akimaru, N., Ohashi, H., Wakui, K., Fukushima, Y., et al. (2011) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 68

Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development

Waga, C., Okamoto, N., Ondo, Y., Fukumura-Kato, R., Goto, Y.-I., Kohsaka, S., & Uchino, S. (2011) · Psychiatric Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 57

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype

Ueda, K., Yaoita, M., Niihori, T., Aoki, Y., & Okamoto, N. (2017) · American Journal of Medical Genetics Part A

Craniofacial Disorders and TreatmentsProtein Tyrosine Phosphatases

Cited by 46

Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy

Sakamoto, M., Iwama, K., Sekiguchi, F., Mashimo, H., Kumada, S., Ishigaki, K., Okamoto, N., Behnam, M., Ghadami, M., Koshimizu, E., et al. (2021) · Journal of Human Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 26

Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy

Tsurusaki, Y., Okamoto, N., Suzuki, Y., Doi, H., Saitsu, H., Miyake, N., & Matsumoto, N. (2011) · Clinical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9