Institute of Science Tokyo · Graduate School of Medical and Dental Sciences

Research keywordsmedical genomics・rare disease genetics・neurodevelopmental disorders・retinal dystrophy genetics・hearing loss genetics・megalencephaly syndromes・exome sequencing・tumor immunogenomics・genome editing・molecular diagnosis

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• Kato Kohji, Miya Fuyuki, Oka Yasuyoshi, Mizuno Seiji, Saitoh Shinji. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders JOURNAL OF HUMAN GENETICS. 2020.10; ( PubMed , DOI )2020
• Mutai Hideki, Wasano Koichiro, Momozawa Yukihide, Kamatani Yoichiro, Miya Fuyuki, Masuda Sawako, Morimoto Noriko, Nara Kiyomitsu, Takahashi Satoe, Tsunoda Tatsuhiko, Homma Kazuaki, Kubo Michiaki, Matsunaga Tatsuo. Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans PLOS GENETICS. 2020.04; 16 (4): e1008643. ( PubMed , DOI )2020
• Nishino Jo, Watanabe Shuichi, Miya Fuyuki, Kamatani Takashi, Sugawara Toshitaka, Boroevich Keith A., Tsunoda Tatsuhiko. Quantification of multicellular colonization in tumor metastasis using exome-sequencing data INTERNATIONAL JOURNAL OF CANCER. 2020.05; 146 (9): 2488-2497. ( PubMed , DOI )2020
• Nishiguchi Koji M., Fujita Kosuke, Miya Fuyuki, Katayama Shota, Nakazawa Toru. Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice NATURE COMMUNICATIONS. 2020.01; 11 (1): 482. ( PubMed , DOI )2020

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