Yokohama City University · Graduate School of Medicine / Faculty of Medicine

Research keywordsMendelian disorders・splicing variant interpretation・exome sequencing・neurodevelopmental disorders・MN1 syndrome・pontocerebellar hypoplasia

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• Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities2020 · The American Journal lof Human Genetics 106 1 - 13 2020年1月
• Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.論文
• TBK1-Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia.論文
• Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi論文

• Official profile