Hiroshi Kawame
Professor
Department of Genomic Medicine Support and Genetic Counselin
Tohoku University
Japan
Biography
Dr. Hiroshi Kawameis a Professor of Genomic Medicine Support and Genetic Counseling, at Tohoku University. His research theme are Delineation of natural history and genetic counseling issues of genetic syndromes. Identification of genetic counseling issues in genome-wide genetic testing. Development of resources and methods of genetic and genomic literacy
Research Interest
Genetic counseling, birth defects, natural history, personalized medicine, genetic and genomic literacy, genetic counseling program, systematic review, role play
Publications
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Kawame, H., Hannibal, M. C., Hudgins, L., & Pagon, R. A. (1999). Phenotypic spectrum and management issues in Kabuki syndrome. The Journal of pediatrics, 134(4), 480-485.
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Tsurusaki, Y., Okamoto, N., Ohashi, H., Kosho, T., Imai, Y., Hibi-Ko, Y., ... & Fukushima, Y. (2012). Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nature genetics, 44(4), 376-378.
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Aoki, Y., Niihori, T., Kawame, H., Kurosawa, K., Ohashi, H., Tanaka, Y., ... & Matsubara, Y. (2005). Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nature genetics, 37(10), 1038.
