MIYA Fuyuki

Last updated: Sep 20, 2019 at 02:42

Name	MIYA Fuyuki
URL	https://sites.google.com/site/fuyukimiya/
Affiliation	Tokyo Medical and Dental University
Section	Medical Research Institute Medical Genomics Medical Science Mathematics
Job title	Junior Associate Professor
Degree	Ph.D in Medicine(University of Tsukuba)
Other affiliation	Tokyo Medical and Dental University
Research funding number	50415311
ORCID ID	0000-0001-6758-2015

Research Interests

Bioinformatics(258) , Disease genetics(1) , Statistics(169) , Molecular biology(961) , Neurology(244)

Research Areas

Genome science / Medical genome science /

Academic & Professional Experience

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Aug 2017

Today

Junior Associate Professor, Medical Research Institute Medical Genomics Medical Science Mathematics, Tokyo Medical and Dental University

Dec 2015

Today

Assistant Professor, Graduate School of Medical and Dental Sciences Life Science and Technology Life Science and Technology Medical Science Mathematics, Tokyo Medical and Dental University

Oct 2015

Jul 2017

Assistant Professor, Medical Research Institute Medical Genomics Medical Science Mathematics, Tokyo Medical and Dental University

Education

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Mar 2016

Graduate School, Division of Human Science, University of Tsukuba

Published Papers

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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome.

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

Journal of medical genetics Dec 2018

Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration.

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

Journal of human genetics 63(10) 1083-1091 Oct 2018 [Refereed]

Gene expression dataset for whole cochlea of Macaca fascicularis

Mutai Hideki, Miya Fuyuki, Shibata Hiroaki, Yasutomi Yasuhiro, Tsunoda Tatsuhiko, Matsunaga Tatsuo

SCIENTIFIC REPORTS 8(1) 15554 Oct 2018

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

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

JOURNAL OF HUMAN GENETICS 63(9) 957-963 Sep 2018 [Refereed]

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

Suzuki N, Mutai H, Miya F, Tsunoda T, Terashima H, Morimoto N, Matsunaga T

BMC PEDIATRICS 18(1) 171 May 2018 [Refereed]

Conference Activities & Talks

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Clinical heterogeneity of genetically confirmed nine patients with Vici syndrome

Shinji Saitoh, Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Tatsuhiko Tsunoda, Naomichi Matsumoto, Tamotsu Yoshimori

14th Asian and Oceanian Congress of Child Neurology (AOCCN) 11 May 2017

Missense mutations in the PLK4 gene identified in a patient with autosomal recessive microcephaly and chorioretinopathy

Makiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, Masafumi Miyata, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh, Hiroki Kurahashi

The 66th Annual Meeting of the American Society of Human Genetics 18 Oct 2016

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

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

ICHG (The 13th International Congress of Human Genetics) 3 Apr 2016

Novel MCA/ID syndrome with ASH1L mutation

Nobuhiko Okamoto, Fuyuki Miya, Kenichi Nishioka, Hidenobu Soejima, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki

ICHG (The 13th International Congress of Human Genetics) 3 Apr 2016

Novel Splicing Mutation in the ASXL3 gene causing Bainbridge-Ropers Syndrome

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

ICHG (The 13th International Congress of Human Genetics) 3 Apr 2016

Patents

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WO 2012/115270 : METHOD FOR SELECTING IPS CELL CLONE, AND METHOD FOR SELECTING GENE USED IN METHOD FOR SELECTING SAME

Yohei Okada, Hideyuki Okano, Tatsuhiko Tsunoda, Fuyuki Miya