Sato Taimu, Nishiguchi Koji M., Fujita Kosuke, Miya Fuyuki, Inoue Takashi, Sasaki Erika, Asano Toshifumi, Tsuda Satoru, Shiga Yukihiro, Kunikata Hiroshi, Nakazawa Mitsuru, Nakazawa Toru. Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer ACTA OPHTHALMOLOGICA. 2020.02; ( PubMed, DOI )

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 )

Sato Yasuyoshi, Wada Ikuo, Odaira Kosuke, Hosoi Akihiro, Kobayashi Yukari, Nagaoka Koji, Karasaki Takahiro, Matsushita Hirokazu, Yagi Koichi, Yamashita Hiroharu, Fujita Masashi, Watanabe Shuichi, Kamatani Takashi, Miya Fuyuki, Mineno Junichi, Nakagawa Hidewaki, Tsunoda Tatsuhiko, Takahashi Shunji, Seto Yasuyuki, Kakimi Kazuhiro. Integrative immunogenomic analysis of gastric cancer dictates novel immunological classification and the functional status of tumor-infiltrating cells CLINICAL & TRANSLATIONAL IMMUNOLOGY. 2020; 9 (10): e1194. ( PubMed, DOI )

Nikopoulos Konstantinos, Cisarova Katarina, Quinodoz Mathieu, Koskiniemi-Kuendig Hanna, Miyake Noriko, Farinelli Pietro, Rehman Atta Ur, Khan Muhammad Imran, Prunotto Andrea, Akiyama Masato, Kamatani Yoichiro, Terao Chikashi, Miya Fuyuki, Ikeda Yasuhiro, Ueno Shinji, Fuse Nobuo, Murakami Akira, Wada Yuko, Terasaki Hiroko, Sonoda Koh-Hei, Ishibashi Tatsuro, Kubo Michiaki, Cremers Frans P. M., Kutalik Zoltan, Matsumoto Naomichi, Nishiguchi Koji M., Nakazawa Toru, Rivolta Carlo. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy NATURE COMMUNICATIONS. 2019.06; 10 (1): 2884. ( PubMed, DOI )

Kato K, Miya F, Hamada N, Negishi Y, Narumi-Kishimoto Y, Ozawa H, Ito H, Hori I, Hattori A, Okamoto N, Kato M, Tsunoda T, Kanemura Y, Kosaki K, Takahashi Y, Nagata KI, Saitoh S. <i>MYCN</i> de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome. Journal of medical genetics. 2018.12; ( PubMed, DOI )

Akiyama M, Takahashi A, Momozawa Y, Arakawa S, Miya F, Tsunoda T, Ashikawa K, Oshima Y, Yasuda M, Yoshida S, Enaida H, Tan X, Yanagi Y, Yasukawa T, Ogura Y, Nagai Y, Takahashi K, Fujisawa K, Inoue M, Arakawa A, Tanaka K, Yuzawa M, Kadonosono K, Sonoda KH, Ishibashi T, Kubo M. Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. Journal of human genetics. 2018.10; 63 (10): 1083-1091. ( PubMed, DOI )

Mutai Hideki, Miya Fuyuki, Shibata Hiroaki, Yasutomi Yasuhiro, Tsunoda Tatsuhiko, Matsunaga Tatsuo. Gene expression dataset for whole cochlea of Macaca fascicularis SCIENTIFIC REPORTS. 2018.10; 8 (1): 15554. ( PubMed, DOI )

Hori I*, Miya F* (*equal contribution), Negishi Y, Hattori A, Ando N, Boroevich KA, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome JOURNAL OF HUMAN GENETICS. 2018.09; 63 (9): 957-963. ( PubMed, DOI )

Suzuki N, Mutai H, Miya F, Tsunoda T, Terashima H, Morimoto N, Matsunaga T. A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX 10 BMC PEDIATRICS. 2018.05; 18 (1): 171. ( PubMed, DOI )

Shigemizu D*, Miya F* (*equal contribution), Akiyama S, Okuda S, Boroevich KA, Fujimoto A, Nakagawa H, Ozaki K, Niida S, Kanemura Y, Okamoto N, Saitoh S, Kato M, Yamasaki M, Matsunaga T, Mutai H, Kosaki K, Tsunoda T. IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis SCIENTIFIC REPORTS. 2018.04; 8 (1): 5608. ( PubMed, DOI )

Tamai K, Tada K, Takeuchi A, Nakamura M, Marunaka H, Washio Y, Tanaka H, Miya F, Okamoto N, Kageyama M. Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non-lethal form of Raine syndrome AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018.03; 176 (3): 682-686. ( PubMed, DOI )

Ikeda Y, Nishiguchi KM, Miya F, Shimozawa N, Funatsu J, Nakatake S, Fujiwara K, Tachibana T, Murakami Y, Hisatomi T, Yoshida S, Yasutomi Y, Tsunoda T, Nakazawa T, Ishibashi T, Sonoda K. Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2018.02; 59 (2): 826-830. ( PubMed, DOI )

Okamoto N, Miya F, Hatuskawa Y, Suzuki Y, Kawato K, Yamamoto Y, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.. Siblings with Optic Neuropathy and RTN4IP1 Mutation. J. Hum. Genet.. 2017.10; (62): 927-929.

Okamoto Nobuhiko, Tsuchiya Yuki, Miya Fuyuki, Tsunoda Tatsuhiko, Yamashita Kumiko, Boroevich Keith A., Kato Mitsuhiro, Saitoh Shinji, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Kitagawa Daiju. A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017.10; 173 (10): 2690-2696. ( PubMed, DOI )

Hosoe Jun, Kadowaki Hiroko, Miya Fuyuki, Aizu Katsuya, Kawamura Tomoyuki, Miyata Ichiro, Satomura Kenichi, Ito Takeru, Hara Kazuo, Tanaka Masaki, Ishiura Hiroyuki, Tsuji Shoji, Suzuki Ken, Takakura Minaka, Boroevich Keith A., Tsunoda Tatsuhiko, Yamauchi Toshimasa, Shojima Nobuhiro, Kadowaki Takashi. Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance DIABETES. 2017.10; 66 (10): 2713-2723. ( PubMed, DOI )

Kato K*, Miya F* (*equal contribution), Hori I, Ieda D, Ohashi K, Negishi Y, Hattori A, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S. A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate JOURNAL OF HUMAN GENETICS. 2017.09; 62 (9): 861-863. ( PubMed, DOI )

Ishigaki Kazuyoshi, Kochi Yuta, Suzuki Akari, Tsuchida Yumi, Tsuchiya Haruka, Sumitomo Shuji, Yamaguchi Kensuke, Nagafuchi Yasuo, Nakachi Shinichiro, Kato Rika, Sakurai Keiichi, Shoda Hirofumi, Ikari Katsunori, Taniguchi Atsuo, Yamanaka Hisashi, Miya Fuyuki, Tsunoda Tatsuhiko, Okada Yukinori, Momozawa Yukihide, Kamatani Yoichiro, Yamada Ryo, Kubo Michiaki, Fujio Keishi, Yamamoto Kazuhiko. Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis NATURE GENETICS. 2017.07; 49 (7): 1120-+. ( PubMed, DOI )

Shigemizu Daichi, Iwase Takuji, Yoshimoto Masataka, Suzuki Yasuyo, Miya Fuyuki, Boroevich Keith A., Katagiri Toyomasa, Zembutsu Hitoshi, Tsunoda Tatsuhiko. The prediction models for postoperative overall survival and disease-free survival in patients with breast cancer CANCER MEDICINE. 2017.07; 6 (7): 1627-1638. ( PubMed, DOI )

Hori Ikumi, Otomo Takanobu, Nakashima Mitsuko, Miya Fuyuki, Negishi Yutaka, Shiraishi Hideaki, Nonoda Yutaka, Magara Shinichi, Tohyama Jun, Okamoto Nobuhiko, Kumagai Takeshi, Shimoda Konomi, Yukitake Yoshiya, Kajikawa Daigo, Morio Tomohiro, Hattori Ayako, Nakagawa Motoo, Ando Naoki, Nishino Ichizo, Kato Mitsuhiro, Tsunoda Tatsuhiko, Saitsu Hirotomo, Kanemura Yonehiro, Yamasaki Mami, Kosaki Kenjiro, Matsumoto Naomichi, Yoshimori Tamotsu, Saitoh Shinji. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement SCIENTIFIC REPORTS. 2017.06; 7 (1): 3552. ( PubMed, DOI )

Okamoto Nobuhiko, Miya Fuyuki, Tsunoda Tatsuhiko, Kato Mitsuhiro, Saitoh Shinji, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro. Novel MCA/ID syndrome with ASH1L mutation AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017.06; 173 (6): 1644-1648. ( PubMed, DOI )

Kawamura Shunsuke, Onai Nobuyuki, Miya Fuyuki, Sato Taku, Tsunoda Tatsuhiko, Kurabayashi Kazutaka, Yotsumoto Satoshi, Kuroda Shoko, Takenaka Katsuto, Akashi Koichi, Ohteki Toshiaki. Identification of a Human Clonogenic Progenitor with Strict Monocyte Differentiation Potential: A Counterpart of Mouse cMoPs IMMUNITY. 2017.05; 46 (5): 835-+. ( PubMed, DOI )

Negishi Yutaka, Miya Fuyuki, Hattori Ayako, Johmura Yoshikazu, Nakagawa Motoo, Ando Naoki, Hori Ikumi, Togawa Takao, Aoyama Kohei, Ohashi Kei, Fukumura Shinobu, Mizuno Seiji, Umemura Ayako, Kishimoto Yoko, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Nakanishi Makoto, Saitoh Shinji. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly BMC MEDICAL GENETICS. 2017.01; 18 (1): 4. ( PubMed, DOI )

Hamada Nanako, Negishi Yutaka, Mizuno Makoto, Miya Fuyuki, Hattori Ayako, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Tabata Hidenori, Saitoh Shinji, Nagata Koh-ichi. Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability JOURNAL OF NEUROCHEMISTRY. 2017.01; 140 (1): 82-95. ( PubMed, DOI )

Tsutsumi M, Yokoi S, Miya F, Miyata M, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S, Kurahashi H.. Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy. Eur. J. Hum. Genet.. 2016.12; (24): 1702-1706.

Nozaki F, Kusunoki T, Okamoto N, Yamamoto Y, Miya F, Tsunoda T, Kosaki K, Kumada T, Shibata M, Fujii T. . ALDH18A1-related cutis laxa syndrome with cyclic vomiting. Brain Dev.. 2016.08; (38): 678-684.

Hori I*, Miya F*, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.. Novel Splicing Mutation in the ASXL3 gene causing Bainbridge-Ropers Syndrome. Am. J. Med. Genet.. 2016.07; (A 170): 1863-1867.

Nakajiri T, Kobayashi K, Okamoto N, Oka M, Miya F, Kosaki K, Yoshinaga H.. Late-onset epileptic spasms in a female patient with a CASK mutation. Brain Dev.. 2015.10; (37): 919-923.

Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Natsume J. . TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Sci. Rep. . 2015.10; (5): 15165.

Imai Y, Morita H, Takeda N, Miya F, Hyodo H, Fujita D, Tajima T, Tsunoda T, Nagai R, Kubo M, Komuro I.. A deletion mutation in myosin heavy chain 11 causing familial thoracic aortic dissection in two Japanese pedigrees. Int. J. Cardiol.. 2015.09; (195): 290-292.

Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, Shimizu A, Torii C, Kanemura Y, Kosaki K.. Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. Clin. Genet.. 2015.09; (88): 288-292.

Miya F, Mutai H, Fujii M, Boroevich KA, Matsunaga T, Tsunoda T.. Gene expression profiling of DBA/2J mice cochleae treated with L-methionine and valproic acid. Genomics Data.. 2015.07; (5): 323-325.

Shigemizu D, Aiba T, Nakagawa H, Ozaki K, Miya F, Satake W, Toda T, Miyamoto Y, Fujimoto A, Suzuki Y, Kubo M, Tsunoda T, Shimizu W, Tanaka T.. Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS ONE. 2015.07; (10): e0130329.

Hirokawa M, Morita H, Tajima T, Takahashi A, Ashikawa K, Miya F, Shigemizu D, Ozaki K, Sakata Y, Nakatani D, Suna S, Imai Y, Tanaka T, Tsunoda T, Matsuda K, Kadowaki T, Nakamura Y, Nagai R, Komuro I, Kubo M.. A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. Eur. J. Hum. Genet.. 2015.05; (23): 374-380.

Nakamura K, Inui T, Miya F, Kanemura Y, Okamoto N, Saitoh S, Yamasaki M, Tsunoda T, Kosaki K, Tanaka S, Kato M.. Primary Microcephaly with Anterior Predominant Pachygyria Caused by Novel Compound Heterozygous Mutations in ASPM. Prediatr. Neurol.. 2015.05; (52): e7-e8.

Mutai H, Miya F, Fujii M, Tsunoda T, Matsunaga T.. Attenuation of Progressive Hearing Loss in DBA/2J Mice by Reagents that Affect Epigenetic Modifications Is Associated with Up-Regulation of the Zinc Importer Zip4. PLoS ONE.. 2015.04; (10): e0124301.

Harada A, Miya F, Utsunomiya H, Kato M, Yamanaka T, Tsunoda T, Kosaki K, Kanemura Y, Yamasaki M. . Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in ATK3. Childs Nerv. Syst.. 2015.03; (31): 465-471.

Miya F, Kato M, Shiohama T, Okamoto N, Saitoh S, Yamasaki M, Shigemizu D, Abe T, Morizono T, Boroevich KA, Kosaki K, Kanemura Y, Tsunoda T.. A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations. Sci. Rep. . 2015.03; (5): 9331.

Negishi Y*, Miya F* (*equal contribution), Hattori A, Mizuno K, Hori I, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K and Saitoh S.. Truncating mutation in NFIA causes brain malformation and urinary tract defects. Hum. Genome Var.. 2015.02; (2): 15007.

Okamoto N, Miya F, Tsunoda T, Yanagihara K, Kato M, Saitoh S, Yamasaki M, Kanemura Y, Kosaki K.. KIF1A mutation in a patient with progressive neurodegeneration. J. Hum. Genet. . 2014.11; (59): 639-541.

Tateno C, Miya F, Wake K, Kataoka M, Ishida Y, Yamasaki C, Kakuni M, Wisse E, Verheyen F, Inoue K, Sato K, Kudo A, Arii S, Itamoto T, Asahara T, Tsunoda T, Yoshizato K. . Morphological and microarray analyses of human hepatocytes from xenogeneic host livers. Lab. Invest. . 2013.01; (93): 54-71.

Fujimoto A, Totoki Y, Abe T, Boroevich KA, Hosoda F, Nguyen HH, Aoki M, Hosono N, Kubo M, Miya F, Arai Y, Takahashi H, Shirakihara T, Nagasaki M, Shibuya T, Nakano K, Watanabe-Makino K, Tanaka H, Nakamura H, Kusuda J, Ojima H, Shimada K, Okusaka T, Ueno M, Shigekawa Y, Kawakami Y, Arihiro K, Ohdan H, Gotoh K, Ishikawa O, Ariizumi S, Yamamoto M, Yamada T, Chayama K, Kosuge T, Yamaue H, Kamatani N, Miyano S, Nakagama H, Nakamura Y, Tsunoda T, Shibata T, Nakagawa H.. Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat. Genet.. 2012.05; (44): 760-764.

Tsuge M, Fujimoto Y, Hiraga N, Zhang Y, Ohnishi M, Kohno T, Abe H, Miki D, Imamura M, Takahashi S, Ochi H, Hayes CN, Miya F, Tsunoda T, Chayama K. . Hepatitis C virus infection suppresses the interferon response in the liver of the human hepatocyte chimeric mouse. PLoS One.. 2011.08; (6): e23856.

Okada Y, Miya F, Kanemura Y, Sunabori T, Koike M, Kohda K, Yuzaki M, Uchiyama Y, Tsunoda T, Yamanaka S, Okano H.. Evaluation of human iPS cells by neural differentiation and tumorigenicity. Neurosci. Res.. 2011.07; (71): e329-e330.

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. Neurosci. Res. . 2011.07; (71): e332.

Tateno C, Kataoka M, Utoh R, Tachibana A, Itamoto T, Asahara T, Miya F, Tsunoda T, Yoshizato K. . Growth Hormone-dependent Pathogenesis of Human Hepatic Steatosis in a Novel Mouse Model Bearing a Human Hepatocyte-repopulated Liver. Endocrinology.. 2011.04; (152): 1479-1491.

Kato Y, Zembutsu H, Takata R, Miya F, Tsunoda T, Obara W, Fujioka T, Nakamura Y. . Predicting response of bladder cancers to gemcitabine and carboplatin neoadjuvant chemotherapy through genome-wide gene expression profiling. Exp. Ther. Med.. 2011.01; (1): 47-56.

Mizumori O, Zembutsu H, Kato Y, Tsunoda T, Miya F, Morizono T, Tsukamoto T, Fujioka T, Tomita Y, Kitamura T, Ozono S, Miki T, Naito S, Akaza H, Nakamura Y.. Identification of a set of genes associated with response to interleukin-2 and interferon-α combination therapy for renal cell carcinoma through genome-wide gene expression profiling. Exp. Ther. Med.. 2010.11; (6): 955-961.

Shimizu T, Ishikawa T, Sugihara E, Kuninaka S, Miyamoto T, Mabuchi Y, Matsuzaki Y, Tsunoda T, Miya F, Morioka H, Nakayama R, Kobayashi E, Toyama Y, Kawai A, Ichikawa H, Hasegawa T, Okada S, Ito T, Ikeda Y, Suda T, Saya H. . c-MYC overexpression with loss of Ink4a/Arf transforms bone marrow stromal cells into osteosarcoma accompanied by loss of adipogenesis. Oncogene.. 2010.10; (29): 5687-5699.

Kato M, Miya F, Kanemura Y, Tanaka T, Nakamura Y, Tsunoda T.. Recombination rates of genes expressed in human tissues. Hum. Mol. Genet.. 2008.02; (17): 577-586.

Ishii K, Tokuda T, Matsushima T, Miya F, Shoji S, Ikeda S, Tamaoka A.. Pravastatin at 10 mg/day does not decrease plasma levels of either amyloid-beta (Abeta) 40 or Abeta 42 in humans. Neurosci Lett.. 2003.10; (350): 161-164.

Miya F, Tokumoto M, Nagahama Y, Okida N, Ishikawa K, Tokumoto T.. Molecular cloning of uniquitin-activating enzyme (E1) from Xenopus laevis. DNA Seq.. 2000.03; (11): 349-352.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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. 8th IBRO World congress of Neuroscience 2011.07.14