講演・口頭発表等 - 宮　冬樹

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  1. 巽 康年, 大平 美紀, 米本 司, 宮 冬樹, 角田 達彦, 鴨田 博人, 石井 猛, 永瀬 浩喜, 下里 修, 岩田 慎太郎. 日本人の小児骨肉腫の肺転移発生に関連するゲノム異常(Genomic landscape of pulmonary metastasis-positive pediatric osteosarcoma in Japanese patients). 日本癌学会総会記事 2019.09.01

  2. Shinji Saitoh, Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Tatsuhiko Tsunoda, Naomichi Matsumoto, Tamotsu Yoshimori. Clinical heterogeneity of genetically confirmed nine patients with Vici syndrome. 14th Asian and Oceanian Congress of Child Neurology (AOCCN) 2017.05.11

  3. Makiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, Masafumi Miyata, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh, Hiroki Kurahashi. Missense mutations in the PLK4 gene identified in a patient with autosomal recessive microcephaly and chorioretinopathy. The 66th Annual Meeting of the American Society of Human Genetics 2016.10.18

  4. Fuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, Nobuhiko Okamoto, Shinji Saitoh, Mami Yamasaki, Daichi Shigemizu, Tetsuo Abe, Takashi Morizono, Keith A Boroevich, Kenjiro Kosaki, Yonehiro Kanemura, Tatsuhiko Tsunoda. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  5. Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh. Combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway associated megalencephaly syndromes. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  6. Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki. Homozygous ADCY5 mutation causes movement disorder with severe intellectual disability. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  7. Yonehiro Kanemura, Fuyuki Miya, Tomoko Shofuda, Ema Yoshioka, Daisuke Kanematsu, Kyoko Itoh, Shinji Fushiki, Takeshi Okinaga, Haruhiko Sago, Rika Kosaki, Kyoko Minagawa, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Kenjiro Kosaki, Mami Yamasaki. Novel compound heterozygous mutations in ISPD gene from two cases of Japanese Walker- Warburg syndrome identi ed by whole-exome sequencing. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  8. Ikumi Hori, Fuyuki Miya, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Naoki Ando, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh. Novel Splicing Mutation in the ASXL3 gene causing Bainbridge-Ropers Syndrome. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  9. Nobuhiko Okamoto, Fuyuki Miya, Kenichi Nishioka, Hidenobu Soejima, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki. Novel MCA/ID syndrome with ASH1L mutation. ICHG (The 13th International Congress of Human Genetics) 2016.04.03

  10. Fuyuki Miya, Mitsuhiro Kato, Tadashi Shiohama, Nobuhiko Okamoto, Shinji Saitoh, Mami Yamasaki, Daichi Shigemizu, Tetsuo Abe, Takashi Morizono, Keith A Boroevich, Kenjiro Kosaki, Yonehiro Kanemura, Tatsuhiko Tsunoda. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. The 65th Annual Meeting of the American Society of Human Genetics 2015.10.06

  11. Yutaka Negishi, Ayako Hattori, Ikumi Hori, Naoki Ando, Fuyuki Miya, Tatsuhiko Tsunoda, Nobuhiko Okamoto, Mitsuhiro Kato, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh. Truncating mutation of NFIA causes a brain malformation and urinary tract defect. The 65th Annual Meeting of the American Society of Human Genetics 2015.10.06

  12. Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki. A novel neurogenetic disorder with STARD9 mutation. The 65th Annual Meeting of the American Society of Human Genetics 2015.10.06

  13. Saitoh S, Miya F, Shiraishi H, Negishi Y, Tsunoda T, Kanemura Y, Kosaki K. Two siblings with Vici syndrome diagnosed by whole exome sequencing. The 13th Asian and Oceanian Congress of Child Neurology 2015.05.14

  14. Mutai H, Miya F, Fujii M, Matsunaga T. Attenuation of progressive hearing loss in DBA/2J mice by epigenetic regulatory reagents is associated with up-regulation of zinc-transporter Zip4 /Slc39a4. Association for Research in Otolaryngology 38th Annual MidWinter Meeting 2015.02.21

  15. Negishi Y, Hattori A, Mizuno K, Hori I, Ando N, Miya F, Tsunoda T, Okamoto N, Kato M, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.. Truncating mutation of NFIA causes a brain malformation and urinary tract defect. The 64th Annual Meeting of the American Society of Human Genetics 2014.10.18

  16. Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Next-generation sequencing in the diagnosis of neurodevelopmental disorders. The European Human Genetics Conference 2014 2014.05.31

  17. Miya F, Morizono T, Abe T, Kubo M, Tsunoda T. Massive Genome-wide cis- and trans-eQTL analysis using next generation sequencer in Japanese population. The 36th Annual Meeting of the Molecular Biology Society of Japan 2013.12.03

  18. Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K. Application of targeted next-generation sequencing in the diagnosis of pediatric neurological disorders. The 63th Annual Meeting of the American Society of Human Genetics 2013.10.26

  19. Ishii S, Okada Y, Miya F, Tsunoda T, Shimazaki T, Okano H. : Efficient generation and developmental analysis of basal forebrain cholinergic neurons from mouse embryonic stem cells. Society for Neuroscience 41th Annual Meeting 2011.11.12

  20. Okada Y, Miya F, Kanemura Y, Koike M, Kohda K, Yuzaki M, Uchiyam Y, Tsunoda T, Yamanaka S, Okano H. Evaluation of human iPS cells by neural differentiation and tumorigenicity. 8th IBRO World congress of Neuroscience 2011.07.14

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