MISHIMA Hiroyuki 三嶋博之

Researcher Number	10513319
Other IDs	https://orcid.org/0000-0001-5050-2509
External Links
Affiliation (Current)	2025: 長崎大学, 原爆後障害医療研究所, 助教
Affiliation (based on the past Project Information) *help	2018 – 2024: 長崎大学, 原爆後障害医療研究所, 助教 2013 – 2015: 長崎大学, 原爆後障害医療研究所, 助教 2013: 長崎大学, 大学院・医歯薬学総合研究科, 助教 2012: 長崎大学, 医歯(薬)学総合研究科, 助教 2012: 長崎大学, 医歯薬学総合研究科, 助教 … More 2011: 長崎大学, COE研究員 2011: 長崎大学, 医歯(薬)学総合研究科, 研究支援員(科学研究) 2009 – 2011: Nagasaki University, 大学院・医歯薬学総合研究科, COE研究員 2010: 長崎大学, 医歯薬学総合研究科, COE研究員 Less
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / System genome science / Embryonic/Neonatal medicine / Obstetrics and gynecology Except Principal Investigator Human genetics / Basic Section 55010:General surgery and pediatric surgery-related / Psychiatric science
Keywords	Principal Investigator バイオインフォマティクス / 希少疾患 / ３次元 / Face2Gene / 診断支援 / 機械学習 / 顔貌解析 / 次世代シークエンサー / 難病ゲノム / ゲノム構造バリエーション … More / パンゲノム / Cliniface / 顔貌 / 未診断疾患 / 難病 / 染色体起因疾患 / 単一遺伝子病 / ダウン症候群 / ３次元モデリング / ゲノム医学 / 臨床遺伝学 / 臨床情報 / 先天性形態異常症候群 / 稀少疾患 / 先天形態異常症候群 / ディープラーニング / 診断補助 / ※希少疾患 / ２次元 / UCSCゲノムデータベース / REST API / ゲノム / TogoWS / Ruby / データベース生物学 / ワークフロー / ヒトゲノム / オープンソースソフトウェア / プロテアソーム / ユビキチン / 先天異常 / 人類遺伝学 / 口唇口蓋裂 / オープンソース / ヒトパピローマウイルス / 婦人科腫瘍学 … More Except Principal Investigator mutation analysis / copy number anlaysis / copy number analysis / 次世代シークエンス / トランスレーショナルリサーチ / リキッドバイオプシー / 乳がん / 次世代シークエンサー / Liquid Biopsy / circulating tumor DNA / 乳癌 / Human Whole Genome SNP 6.0 / 全ゲノムシーケンス / Human Whole Genome SNP6.0 / uniparental disomy / 片親性ダイソミー / 分子遺伝学 / Runs of homozygosity / ホモ接合マッピング / 稀少変異仮説 / 精神疾患 / マイクロアレイ / 遺伝子 / 軟口蓋裂 / 脳動静脈奇形 / 遺伝子座マッピング / 骨髄異形成症 / SOLiD / emulsion PCR / 筋萎縮性側索硬化症 / 歌舞伎症候群 / エキソンキャプチャー法 / 次世代型シーケンサー / ゲノム医科学 Less

Implementing Pangenome-Based Whole Genome Analysis of Structural Variations for Rare DiseasesPrincipal Investigator
- Principal Investigator
  
  三嶋博之
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Nagasaki University
Implementation of 3-D Facial Image-based Diagnosis Assistance of Ultrarare Congenital Malformation SyndromesPrincipal Investigator
- Principal Investigator
  
  Mishima Hiroyuki
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Nagasaki University
Exploration of Novel Diagnostic and Therapeutic Approaches for Breast Cancer Using an Innovative Liquid Biopsy Method
- Principal Investigator
  
  OIKAWA Masahiro
- Project Period (FY)
  2019 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 55010:General surgery and pediatric surgery-related
- Research Institution
  Nagasaki University
Clinical Genetics Knowledge Sharing System for Congenital Rare Disease Deep Phenotyping Overcoming the "30% limit" of DiagnosisPrincipal Investigator
- Principal Investigator
  
  MISHIMA Hiroyuki
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Nagasaki University
Development of Integrated Annotation Workflows for Human Whole Genome SequencingPrincipal Investigator
- Principal Investigator
  
  MISHIMA Hiroyuki
- Project Period (FY)
  2013 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  System genome science
- Research Institution
  Nagasaki University
Genomics Approach to orofacial clefts focusing theubiquitin-proteasome systemPrincipal Investigator
- Principal Investigator
  
  MISHIMA Hiroyuki
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Embryonic/Neonatal medicine
- Research Institution
  Nagasaki University
Approach to the rare variation hypothesis of the psychiatric disorderby a next generation type ultra high-speed sequencer
- Principal Investigator
  
  KUROTAKI Naohiro
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Psychiatric science
- Research Institution
  Nagasaki University
Identification of microUPD and analysis of DNA repair in early development
- Principal Investigator
  
  YOSHIURA Koichiro
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Challenging Exploratory Research
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University
Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture method
- Principal Investigator
  
  YOSHIURA Koichiro
- Project Period (FY)
  2009 – 2011
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Nagasaki University
Individual cervical cancer susceptibility and genomic structural variations of the defensin genesPrincipal Investigator
- Principal Investigator
  
  MISHIMA Hiroyuki
- Project Period (FY)
  2009 – 2010
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Obstetrics and gynecology
- Research Institution
  Nagasaki University

[Book] 次世代シークエンサーDRY解析教本：1-2 コマンドラインの使い方2015
- Author(s)
  三嶋博之，清水厚志
- Total Pages
  399
- Publisher
  学研メディカル秀潤社
- Data Source
  KAKENHI-PROJECT-25430183
[Book] 実験医学増刊・今日から使えるデータベース・ウェブツール達人になるための実線ガイド1002014
- Author(s)
  三嶋博之
- Total Pages
  6
- Publisher
  羊土社
- Data Source
  KAKENHI-PROJECT-25430183
[Journal Article] Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model2023
- Author(s)
  Kashiwa A、Makiyama T、Kohjitani H、Maurissen T L、Ishikawa T、Yamamoto Y、Wuriyanghai Y、Gao J、Huang H、Imamura T、Aizawa T、Nishikawa M、Chonabayashi K、Mishima H、Ohno S、Toyoda F、Sato S、Yoshiura K、Takahashi K、Yoshida Y、Woltjen K、Horie M、Makita N、Kimura T
- Journal Title
  
  Heart Rhythm
  
  Volume: 20 Issue: 1 Pages: 89-99
- DOI
  10.1016/j.hrthm.2022.08.021
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K06781, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-19K17560, KAKENHI-PROJECT-21H02920
[Journal Article] Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis2023
- Author(s)
  Satoh Chisei、Yoshiura Koh-ichiro、Mishima Hiroyuki、Yoshida Haruo、Takahashi Haruo、Kumai Yoshihiko
- Journal Title
  
  BMC Medical Genomics
  
  Volume: 16 Issue: 1 Pages: 238-238
- DOI
  10.1186/s12920-023-01640-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-22K02409, KAKENHI-PROJECT-21K07800
[Journal Article] Four conserved amino acids on human papillomavirus E6 predict clinical high‐risk types2023
- Author(s)
  Niiya Akari、Hamaguchi Yo、Mishima Hiroyuki、Miura Shoko、Komatsu Nahoko、Nagata Koh、Hasegawa Yuri、Miura Kiyonori、Yoshiura Koh‐ichiro
- Journal Title
  
  Journal of Medical Virology
  
  Volume: 95 Issue: 8 Pages: 106844-106844
- DOI
  10.1002/jmv.29049
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K09497, KAKENHI-PROJECT-21K09543, KAKENHI-PROJECT-22K09622, KAKENHI-PROJECT-21K07800
[Journal Article] Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma Transforming into Diffuse Large B-Cell Lymphoma in a Young Adult Patient with Neurofibromatosis Type 1: A Case Report2022
- Author(s)
  Kosako Hideki、Yamashita Yusuke、Tanaka Ken、Mishima Hiroyuki、Iwamoto Ryuta、Kinoshita Akira、Murata Shin-ichi、Ohshima Koichi、Yoshiura Koh-ichiro、Sonoki Takashi、Tamura Shinobu
- Journal Title
  
  Medicina
  
  Volume: 58 Issue: 12 Pages: 1830-1830
- DOI
  10.3390/medicina58121830
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-22K16308, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K17405
[Journal Article] gnomAD（特集: ゲノム医療におけるデータベース―使い方とコツ）2022
- Author(s)
  三嶋博之
- Journal Title
  
  遺伝子医学
  
  Volume: 12 Pages: 60-64
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] Alvocidib inhibits IRF4 expression via super‐enhancer suppression and adult T‐cell leukemia/lymphoma cell growth2022
- Author(s)
  Sakamoto Hikaru、Ando Koji、Imaizumi Yoshitaka、Mishima Hiroyuki、Kinoshita Akira、Kobayashi Yuji、Kitanosono Hideaki、Kato Takeharu、Sawayama Yasushi、Sato Shinya、Hata Tomoko、Nakashima Masahiro、Yoshiura Koh‐Ichiro、Miyazaki Yasushi
- Journal Title
  
  Cancer Science
  
  Volume: 113 Issue: 12 Pages: 4092-4103
- DOI
  10.1111/cas.15550
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K07424, KAKENHI-PROJECT-20K08886
[Journal Article] AIによる先天異常症候群の診断支援（特集・小児外科を取り巻く最新テクノロジー）2022
- Author(s)
  三嶋博之
- Journal Title
  
  小児外科
  
  Volume: 54 Pages: 1018-1021
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] gnomAD (第８章疾患に関するゲノムやバリアントを調べる）2022
- Author(s)
  三嶋博之
- Journal Title
  
  実験医学増刊・バイオDBとウェブツールラボで使える最新70選
  
  Volume: 40 Pages: 2894-2897
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] Targeted deep sequencing analyses of long QT syndrome in a Japanese population2022
- Author(s)
  NagataY、WatanabeR、EichhornC、OhnoS、AibaT、IshikawaT、NakanoY、AizawaY、HayashiKi、MurakoshiN、NakajimaT、YagiharaN、MishimaH、SudoT、HiguchiC、TakahashiA、SekineA、MakiyamaT、TanakaY、WatanabeA、TachibanaM、MoritaH、YoshiuraK-i、TsunodaT、WatanabeH、KurabayashiM、NogamiA、KiharaY、HorieM、ShimizuW、MakitaN、TanakaT
- Journal Title
  
  PLOS ONE
  
  Volume: 17 Issue: 12 Pages: e0277242-e0277242
- DOI
  10.1371/journal.pone.0277242
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K08028, KAKENHI-PROJECT-21K08075, KAKENHI-PROJECT-21K16985, KAKENHI-PROJECT-21H02920, KAKENHI-PROJECT-19K08505, KAKENHI-PROJECT-20K08487, KAKENHI-PROJECT-20K08447
[Journal Article] Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia2022
- Author(s)
  Aoki Saori、Higashimoto Ken、Hidaka Hidenori、Ohtsuka Yasufumi、Aoki Shigehisa、Mishima Hiroyuki、Yoshiura Koh-ichiro、Nakabayashi Kazuhiko、Hata Kenichiro、Yatsuki Hitomi、Hara Satoshi、Ohba Takashi、Katabuchi Hidetaka、Soejima Hidenobu
- Journal Title
  
  Clinical Epigenetics
  
  Volume: 14 Issue: 1 Pages: 64-64
- DOI
  10.1186/s13148-022-01280-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20H03643, KAKENHI-PROJECT-20K08183, KAKENHI-PROJECT-21K19451, KAKENHI-PROJECT-23K24490
[Journal Article] Anti‐desmoglein 1 antibody‐positive mother and antibody‐negative child with Darier's disease2022
- Author(s)
  Kawaguchi Ami、Matsuda Mitsuhiro、Koga Hiroshi、Ohata Chika、Hamada Takahiro、Mishima Hiroyuki、Yoshiura Koh‐ichiro、Jinnin Masatoshi、Minami Hironori、Kanazawa Nobuo
- Journal Title
  
  The Journal of Dermatology
  
  Volume: 50 Issue: 2 Pages: 250-253
- DOI
  10.1111/1346-8138.16568
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing2022
- Author(s)
  Hamaguchi Yo、Mishima Hiroyuki、Kawai Tomoko、Saitoh Shinji、Hata Kenichiro、Kinoshita Akira、Yoshiura Koh-ichiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 12 Pages: 711-720
- DOI
  10.1038/s10038-022-01083-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-19K09993
[Journal Article] Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.2021
- Author(s)
  Ishikawa T, Kimoto H, Mishima H, Yamagata K, Ogata S, Aizawa Y, Hayashi K, Morita H, Nakajima T, Nakano Y, Nagase S, Murakoshi N, Kowase S, Ohkubo K, Aiba T, Morimoto S, Ohno S, Kamakura S, Nogami A, Takagi M, Karakachoff M, Dina C, Schott JJ, Yoshiura KI, Horie M, Shimizu W, Nishimura K, Kusano K, Makita N.
- Journal Title
  
  Eur Heart J.
  
  Volume: 42(29) Issue: 29 Pages: 2854-2863
- DOI
  10.1093/eurheartj/ehab254
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K09524, KAKENHI-PROJECT-18K15407, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21H02920, KAKENHI-PROJECT-20K08487, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K08028, KAKENHI-PROJECT-21K08075, KAKENHI-PROJECT-20K08416
[Journal Article] <i>Itpr1</i> regulates the formation of anterior eye segment tissues derived from neural crest cells2021
- Author(s)
  Kinoshita Akira、Ohyama Kaname、Tanimura Susumu、Matsuda Katsuya、Kishino Tatsuya、Negishi Yutaka、Asahina Naoko、Shiraishi Hideaki、Hosoki Kana、Tomiwa Kiyotaka、Ishihara Naoko、Mishima Hiroyuki、Mori Ryoichi、Nakashima Masahiro、Saitoh Shinji、Yoshiura Koh-ichiro
- Journal Title
  
  Development
  
  Volume: 148 Issue: 16 Pages: 188755-188755
- DOI
  10.1242/dev.188755
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K21583, KAKENHI-PROJECT-21H04853, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-20H03646, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08886, KAKENHI-PROJECT-21K06069, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20K20617
[Journal Article] BCS1L mutations produce Fanconi syndrome with developmental disability2021
- Author(s)
  Kanako Kojima-Ishii、Sakakibara Nana、Murayama Kei、Nagatani Koji、Murata Satoshi、Otake Akira、Koga Yasutoshi、Suzuki Hisato、Uehara Tomoko、Kosaki Kenjiro、Yoshiura Koh-ichiro、Mishima Hiroyuki、Ichimiya Yuko、Mushimoto Yuichi、Horinouchi Tomoko、Nagano China、Yamamura Tomohiko、Iijima Kazumoto、Nozu Kandai
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 67 Issue: 3 Pages: 143-148
- DOI
  10.1038/s10038-021-00984-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia2021
- Author(s)
  Tamura Shinobu、Kosako Hideki、Furuya Yoshiaki、Yamashita Yusuke、Mushino Toshiki、Mishima Hiroyuki、Kinoshita Akira、Nishikawa Akinori、Yoshiura Ko-Ichiro、Sonoki Takashi
- Journal Title
  
  Acta Haematologica
  
  Volume: 145 Issue: 1 Pages: 89-96
- DOI
  10.1159/000518227
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-20K17405
[Journal Article] Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura2021
- Author(s)
  Mushino Toshiki、Hiroi Takayuki、Yamashita Yusuke、Suzaki Norihiko、Mishima Hiroyuki、Ueno Masaki、Kinoshita Akira、Minami Koichi、Imai Kohsuke、Yoshiura Ko-ichiro、Sonoki Takashi、Tamura Shinobu
- Journal Title
  
  Intern. Med.
  
  Volume: 60 Issue: 12 Pages: 1927-1933
- DOI
  10.2169/internalmedicine.6694-20
- NAID
  130008052635
- ISSN
  0918-2918, 1349-7235
- Year and Date
  2021-06-15
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K17868, KAKENHI-PROJECT-18K07814, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-20K17405
[Journal Article] A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models2021
- Author(s)
  Yoshiro Morimoto, Shinji Ono, Shintaro Yoshida, Hiroyuki Mishima, Akira Kinoshita, Takeshi Tanaka, Yoshihiro Komohara, Naohiro Kurotaki, Tatsuya Kishino, Yuji Okazaki, Hiroki Ozawa, Koh-ichiro Yoshiura, Akira Imamura
- Journal Title
  
  Translational Psychiatry
  
  Volume: 11 Issue: 1 Pages: 132-132
- DOI
  10.1038/s41398-021-01258-1
- NAID
  120007000270
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08050, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K16650, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-18K07850
[Journal Article] Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities2021
- Author(s)
  Satoh Chisei、Kondoh Tatsuro、Shimizu Hitomi、Kinoshita Akira、Mishima Hiroyuki、Nishimura Gen、Miyazaki Mutsuko、Okano Kunihiko、Kumai Yoshihiko、Yoshiura Koh-ichiro
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 64 Issue: 2 Pages: 104125-104125
- DOI
  10.1016/j.ejmg.2020.104125
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18K07850
[Journal Article] ヒトゲノムデータの利活用の実際（特集・みんなのバイオDX）2021
- Author(s)
  三嶋博之
- Journal Title
  
  実験医学
  
  Volume: 39 Pages: 3014-3017
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] Bile extracellular vesicles from end-stage liver disease patients show altered microRNA content2021
- Author(s)
  Nakashiki Suguru、Miuma Satoshi、Mishima Hiroyuki、Masumoto Hiroshi、Hidaka Masaaki、Soyama Akihiko、Kanda Yasuko、Fukushima Masanori、Haraguchi Masafumi、Sasaki Ryu、Miyaaki Hisamitsu、Ichikawa Tatsuki、Takatsuki Mitsuhisa、Eguchi Susumu、Yoshiura Koh-ichiro、Nakao Kazuhiko
- Journal Title
  
  Hepatology International
  
  Volume: 15 Issue: 3 Pages: 821-830
- DOI
  10.1007/s12072-021-10196-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07975, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K07916, KAKENHI-PROJECT-19K17497
[Journal Article] Multifaceted array‐based keloidal gene expression profiling reveals specific MDFI upregulation in keloid lesions2021
- Author(s)
  Asai M.、Koike Y.、Kuwatsuka Y.、Yagi Y.、Kashiyama K.、Tanaka K.、Mishima H.、Yoshiura K.、Utani A.、Murota H.
- Journal Title
  
  Clinical and Experimental Dermatology
  
  Volume: 46 Issue: 7 Pages: 1255-1261
- DOI
  10.1111/ced.14698
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21K07800
[Journal Article] Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency2021
- Author(s)
  Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, M.H, K.A, M.T, H.S, K.N, K.S, H.Y, I.K, N.R, T.M, Y.Y, T.S, O.T, O.T, K.T, S.I, F.Y, W.N, I.Y, K.K, O.S, T.T, N.K, M.S, Y.K, Kaisho T
- Journal Title
  
  Nature Communications
  
  Volume: 12 Issue: 1 Pages: 0-0
- DOI
  10.1038/s41467-021-27085-y
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K07062, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08299, KAKENHI-PROJECT-20K16289, KAKENHI-ORGANIZER-18H05497, KAKENHI-PLANNED-18H05500, KAKENHI-PROJECT-18H04022, KAKENHI-PROJECT-19H03620, KAKENHI-PROJECT-20H03505, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-21J22615, KAKENHI-PROJECT-19K08754, KAKENHI-PROJECT-19K08798, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-20K08158, KAKENHI-PROJECT-20K08718, KAKENHI-PROJECT-21K06956, KAKENHI-PROJECT-21K07770, KAKENHI-PROJECT-21K07800, KAKENHI-PROJECT-21K19384, KAKENHI-PROJECT-20K17405
[Journal Article] Next-generation sequencing of the whole MEFV gene in Japanese patients with familial Mediterranean fever: a case-control association study2020
- Author(s)
  Koga T, Sato S, Mishima H, Migita K, Endo Y, Umeda M, Sumiyoshi R, Nonaka F, Fukui S, Kawashiri S-Y, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura K-I, Eguchi K, Kawakami A
- Journal Title
  
  Clin Exp Rheumatol
  
  Volume: 38
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07850
[Journal Article] Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report2020
- Author(s)
  Morita Shuhei、Takeshima Ken、Ariyasu Hiroyuki、Furukawa Yasushi、Kishimoto Shohei、Tsuji Tomoya、Uraki Shinsuke、Mishima Hiroyuki、Kinoshita Akira、Takahashi Yuichi、Inaba Hidefumi、Iwakura Hiroshi、Furuta Hiroto、Nishi Masahiro、Doi Asako、Murata Shin-ichi、Yoshiura Koh-ichiro、Akamizu Takashi
- Journal Title
  
  BMC Endocrine Disorders
  
  Volume: 20 Issue: 1 Pages: 90-90
- DOI
  10.1186/s12902-020-00574-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-20K17518, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18K07850
[Journal Article] AIを用いた先天形態異常症候群の診断2020
- Author(s)
  三嶋博之
- Journal Title
  
  月刊泌尿器科
  
  Volume: 13 Pages: 197-202
- NAID
  40022498432
- Data Source
  KAKENHI-PROJECT-18K07850
[Journal Article] BioHackathon 2015: Semantics of data for life sciences and reproducible research.,2020
- Author(s)
  Vos, Katayama, Mishima et. al
- Journal Title
  
  F1000Reseaech
  
  Volume: - Pages: 136-136
- DOI
  10.12688/f1000research.18236.1
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-17K07663
[Journal Article] A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG52020
- Author(s)
  Nakano Y, Komiya C, Shimizu H, Mishima H, Shiba K, Tsujimoto K, Ikeda K, Kashimada K, Dateki S, Yoshiura KI, Ogawa Y, Yamada T.
- Journal Title
  
  Endocrine Journal
  
  Volume: 67 Issue: 11 Pages: 1099-1105
- DOI
  10.1507/endocrj.ej20-0044
- NAID
  130007945810
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18H02859, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K17955
[Journal Article] Cardiac Emerinopathy2020
- Author(s)
  Ishikawa Taisuke、Ichida Fukiko、Makita Naomasa　et al
- Journal Title
  
  Circulation: Arrhythmia and Electrophysiology
  
  Volume: 13 Issue: 10 Pages: 1165-1174
- DOI
  10.1161/circep.120.008712
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07785, KAKENHI-PROJECT-19K08295, KAKENHI-PROJECT-19K21724, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-18H02808, KAKENHI-PROJECT-20H03591, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-18K19550, KAKENHI-PROJECT-20K08416, KAKENHI-PROJECT-18H03083
[Journal Article] eterogenous nature of gene expression patterns in BRAF-like papillary thyroid carcinomas with BRAFV600E.2019
- Author(s)
  Nagayama Y, Mishima H
- Journal Title
  
  Endocrine
  
  Volume: 66 Issue: 3 Pages: 607-613
- DOI
  10.1007/s12020-019-02063-z
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09028
[Journal Article] Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome2019
- Author(s)
  Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura K, Dateki S
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Issue: 5 Pages: 467-471
- DOI
  10.1038/s10038-019-0581-9
- NAID
  120006987791
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-16KT0112
[Journal Article] Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki2019
- Author(s)
  Taguchi M, Mishima H, Shiozawa Y, Hayashida C, Kinoshita A, Nannya Y, Makishima H, Horai M, Matsuo M, Sato S, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Moriuchi Y, Shiraishi Y, Miyano S, Ogawa S, Yoshiura K-i, Miyazaki Y
- Journal Title
  
  Haematologica
  
  Volume: 105 Issue: 2 Pages: 358-365
- DOI
  10.3324/haematol.2019.219386
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-17K16189, KAKENHI-PROJECT-18KK0245, KAKENHI-PLANNED-15H05909, KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-19H01053, KAKENHI-PROJECT-17H04209, KAKENHI-PROJECT-16KT0112
[Journal Article] Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.2019
- Author(s)
  Y. Endo, T. Koga, M. Nakashima, H. Mishima, K. Yoshiura, A. Kawakami
- Journal Title
  
  Clin Exp Rheumatol
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07850
[Journal Article] A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency2019
- Author(s)
  Sumito Dateki, Satoshi Watanabe, Hiroyuki Mishima, Toshihiko Shirakawa, Minoru Morikawa, Eiichi Kinoshita, Koh-ichiro Yoshiura, and Hiroyuki Moriuchi
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Issue: 4 Pages: 341-346
- DOI
  10.1038/s10038-019-0566-8
- NAID
  120006987778
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-16KT0112
[Journal Article] Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population2019
- Author(s)
  Shibano Masayasu、Watanabe Akira、Takano Nobuo、Mishima Hiroyuki、Kinoshita Akira、Yoshiura Koh-ichiro、Shibahara Takahiko
- Journal Title
  
  The Cleft Palate-Craniofacial Journal
  
  Volume: 57 Issue: 1 Pages: 80-87
- DOI
  10.1177/1055665619857650
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112
[Journal Article] Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan2019
- Author(s)
  Mishima Hiroyuki、Suzuki Hisato、Doi Michiko、Miyazaki Mutsuko、Watanabe Satoshi、Matsumoto Tadashi、Morifuji Kanako、Moriuchi Hiroyuki、Yoshiura Koh-ichiro、Kondoh Tatsuro、Kosaki Kenjiro
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 8 Pages: 789-794
- DOI
  10.1038/s10038-019-0619-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PLANNED-18H05506, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-16K12149, KAKENHI-PROJECT-17K12295
[Journal Article] Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities2019
- Author(s)
  Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura K, Ono S
- Journal Title
  
  Neurology
  
  Volume: 92 Issue: 20
- DOI
  10.1212/wnl.0000000000007505
- NAID
  120006987711
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07088, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K08050, KAKENHI-PROJECT-19K09993, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K10276, KAKENHI-PROJECT-17K10309
[Journal Article] Identification of a novel CCDC22 mutation in a patient with severe Epstein?Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia2019
- Author(s)
  Yamashita Y, Nishikawa A, Iwahashi Y, Fujimoto M, Sasaki I, Mishima H, Kinoshita A, Hemmi H, Kanazawa N, Ohshima K, Imadome KI, Murata SI、Yoshiura KI, Kaisho T, Sonoki T, Tamura S
- Journal Title
  
  International Journal of Hematology
  
  Volume: 印刷中 Issue: 6 Pages: 744-750
- DOI
  10.1007/s12185-019-02595-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07071, KAKENHI-PROJECT-18K07850, KAKENHI-PUBLICLY-17H05799, KAKENHI-PROJECT-17H04088, KAKENHI-PROJECT-17K19568, KAKENHI-PROJECT-19K07628, KAKENHI-PROJECT-19K08821, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PUBLICLY-19H04813, KAKENHI-PROJECT-16KT0112
[Journal Article] KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup)2019
- Author(s)
  Hamaguchi Yo、Aoki Mikihiro、Watanabe Satoshi、Mishima Hiroyuki、Yoshiura Koh-ichiro、Moriuchi Hiroyuki、Dateki Sumito
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 54-54
- DOI
  10.1038/s41439-019-0085-3
- NAID
  120006988337
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112
[Journal Article] Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.2018
- Author(s)
  Hidaka H, Higashimoto K, Aoki S, Mishima H, Hayashida C, Maeda T, Koga Y, Yatsuki H, Joh K, Noshiro H, Iwakiri R, Kawaguchi A, Yoshiura KI, Fujimoto K, Soejima H.
- Journal Title
  
  Clin Epigenetics
  
  Volume: 10 Issue: 1 Pages: 150-150
- DOI
  10.1186/s13148-018-0578-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-17K08687, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-16H05159, KAKENHI-PROJECT-16K09970, KAKENHI-PROJECT-18H00338
[Journal Article] Patients with SATB2-associated syndrome exhibiting multiple odontomas.2018
- Author(s)
  Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 176 Issue: 12 Pages: 2614-2622
- DOI
  10.1002/ajmg.a.40670
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16KT0112, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-17H01606, KAKENHI-PROJECT-16H05159
[Journal Article] Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing2018
- Author(s)
  Matsuno, S., Furuta, H., Kosaka, K., Doi, A., Yorifuji, T., Fukuda, T., Senmaru, T., Uraki, S., Matsutani, N., Furuta, M., Mishima, H., Iwakura, H., Nishi, M., Yoshiura, K., Fukui, M. and Akamizu, T.
- Journal Title
  
  J Diabetes Investig
  
  Volume: Epub ahead of print Issue: 4 Pages: 947-950
- DOI
  10.1111/jdi.12974
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K09842, KAKENHI-PROJECT-18K07850, KAKENHI-PROJECT-19K22913, KAKENHI-PROJECT-18KK0245, KAKENHI-PROJECT-16KT0112
[Journal Article] Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.2016
- Author(s)
  Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
- Journal Title
  
  Scientific Reports
  
  Volume: 6 Issue: 1 Pages: 22985-22985
- DOI
  10.1038/srep22985
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-16H05357
[Journal Article] Germline mutations causing familial lung cancer.2015
- Author(s)
  Tomoshige K, Matsumoto K, Tsuchiya T, Oikawa M, Miyazaki T, Yamasaki N, Mishima H, Kinoshita A, Kubo T, Fukushima K, Yoshiura K, Nagayasu T.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Issue: 10 Pages: 597-603
- DOI
  10.1038/jhg.2015.75
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K10481, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084
[Journal Article] Pregnancy-associated microRNAs in plasma as potential molecular markers of ectopic pregnancy2015
- Author(s)
  Miura K, Higashijima A, Mishima H, Miura S, Kitajima M, Kaneuchi M, Yoshiura K, Masuzaki H
- Journal Title
  
  Fertility and Sterility
  
  Volume: 印刷中 Issue: 5 Pages: 1202-1208
- DOI
  10.1016/j.fertnstert.2015.01.041
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-15K10674, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084
[Journal Article] Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders2015
- Author(s)
  Yamamoto T, Mishima H, Mizukami H, Fukahori Y, Umehara T, Murase T, Kobayashi M, Mori S, Nagai T, Fukunaga T, Yamaguchi S, Yoshiura K, Ikematsu K
- Journal Title
  
  Molecular Genetics and Metabolism Report
  
  Volume: 5 Pages: 26-32
- DOI
  10.1016/j.ymgmr.2015.09.005
- NAID
  120006986854
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25430183
[Journal Article] Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency2015
- Author(s)
  Tamura S, Higuchi K, Tamaki M, Inoue C, Awazawa R, Mitsuki N, Nakazawa Y, Mishima H, Takahashi K, Kondo O, Imai K, Morio T, Ohara O,et al
- Journal Title
  
  Clin Immunol
  
  Volume: 160 Issue: 2 Pages: 255-260
- DOI
  10.1016/j.clim.2015.07.004
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09640, KAKENHI-PROJECT-15K09747, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-26461567, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-26291005, KAKENHI-PROJECT-15H02654
[Journal Article] Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.2014
- Author(s)
  Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 59 (5) Issue: 5 Pages: 251-255
- DOI
  10.1038/jhg.2014.9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791711, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25861498, KAKENHI-PROJECT-26462495
[Journal Article] Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma.2014
- Author(s)
  Tsukamoto O, Miura K, Mishima H, Abe S, Kaneuchi M, Higashijima A, Miura S, Kinoshita A, Yoshiura K, Masuzaki H.
- Journal Title
  
  Gynecologic Oncology
  
  Volume: 132 (3) Issue: 3 Pages: 715-721
- DOI
  10.1016/j.ygyno.2014.01.029
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25861498, KAKENHI-PROJECT-26462495
[Journal Article] Genome-wide association study of HPV-associated cervical cancer in Japanese women.2014
- Author(s)
  Miura K, Mishima H, Kinoshita A, Hayashida C, Abe S, Tokunaga K, Masuzaki H, Yoshiura KI.
- Journal Title
  
  Journal of Medical Virology
  
  Volume: 86 (7) Issue: 7 Pages: 1153-1158
- DOI
  10.1002/jmv.23943
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26462495, KAKENHI-PROJECT-221S0002
[Journal Article] Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome2014
- Author(s)
  Miura K, Higashijima A, Miura S, Mishima H, Yamasaki K, Abe S, Hasegawa Y, Kaneuchi M, Yoshida A, Kinoshita A, Yoshiura KI, Masuzaki H.
- Journal Title
  
  Prenatal Diagnosis
  
  Volume: 34 Issue: 4 Pages: 345-349
- DOI
  10.1002/pd.4307
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23592406, KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-24590403, KAKENHI-PROJECT-24791712, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25462563, KAKENHI-PROJECT-26462495
[Journal Article] Circulating levels of maternal plasma cell-free pregnancy-associated placenta-specific microRNAs are associated with placental weight.2014
- Author(s)
  Miura K, Morisaki S, Abe S, Higashijima A, Hasegawa Y, Miura S, Tateishi S, Mishima H, Yoshiura K, Masuzaki H.
- Journal Title
  
  placenta
  
  Volume: 35 (10) Issue: 10 Pages: 848-851
- DOI
  10.1016/j.placenta.2014.06.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-25550033, KAKENHI-PROJECT-26462495
[Journal Article] Clinical applications of analysis of plasma circulating complete hydatidiform mole pregnancy-associated miRNAs in gestational trophoblastic neoplasia: A preliminary investigation.2014
- Author(s)
  Miura K, Hasegawa Y, Abe S, Higashijima A, Miura S, Mishima H, Kinoshita A, Kaneuchi M, Yoshiura K, Masuzaki H.
- Journal Title
  
  Placenta
  
  Volume: 35 (9) Issue: 9 Pages: 787-789
- DOI
  10.1016/j.placenta.2014.06.004
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24390199, KAKENHI-PROJECT-25293084, KAKENHI-PROJECT-25430183, KAKENHI-PROJECT-26462495
[Journal Article] 全エクソーム解析における情報処理2013
- Author(s)
  三嶋博之
- Journal Title
  
  医学のあゆみ
  
  Volume: 245 Pages: 345-351
- Data Source
  KAKENHI-PROJECT-25430183
[Journal Article] Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy2013
- Author(s)
  Higashijima A, Miura K, Mishima H, Kinoshita A, Jo O, Abe S, Hasegawa Y, Miura S, Yamasaki K, Yoshida A, Yoshiura K, Masuzaki H
- Journal Title
  
  Prenatal Diagnosis
  
  Volume: 33 Pages: 214-222
- Data Source
  KAKENHI-PROJECT-23791230
[Journal Article] Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer2013
- Author(s)
  Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Sasaki K, Yoshida A, Yoshiura K, Masuzaki H
- Journal Title
  
  J Hum Genet
- NAID
  10031177218
- Data Source
  KAKENHI-PROJECT-23791230
[Journal Article] Biogem: an effective tool based approach for scaling up open source software development in bioinformatics2012
- Author(s)
  Bonnal RJP, Aerts J, Githinji G, Goto N, MacLean D, Miller CA, Mishima H, Pagani M, Ramirez-Gonzalez R, Smant G, Strozzi F, Syme R, Vos R, Wennblom TJ, Woodcroft BJ, Katayama T, Prins P
- Journal Title
  
  Bioinformatics
  
  Volume: 28 Issue: 7 Pages: 1035-1037
- DOI
  10.1093/bioinformatics/bts080
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791230
[Journal Article] The Ruby UCSC API: accessing the UCSC genome database using Ruby2012
- Author(s)
  Hiroyuki Mishima
- Journal Title
  
  BMC Bioinformatics
  
  Volume: 13 Issue: 1 Pages: 1471-2105
- DOI
  10.1186/1471-2105-13-240
- NAID
  120006985547
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791230, KAKENHI-PROJECT-24390199
[Journal Article] Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair2012
- Author(s)
  Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T
- Journal Title
  
  Nature Genetics
  
  Volume: 44 Pages: 586-592
- NAID
  120006985586
- Data Source
  KAKENHI-PROJECT-23791230
[Journal Article] Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.2012
- Author(s)
  Sasaki K, Mishima H, Miura K, Yoshiura K
- Journal Title
  
  Gene
  
  Volume: 512 Pages: 267-274
- NAID
  120006985901
- Data Source
  KAKENHI-PROJECT-23791230
[Journal Article] The Ruby UCSC API: accessing the UCSC genome database using Ruby2012
- Author(s)
  Mishima H, Aerts J, Katayama T, Bonnal RJ, Yoshiura K
- Journal Title
  
  BMC Bioinformatics
  
  Volume: 13 Pages: 240-240
- NAID
  120006985547
- Data Source
  KAKENHI-PROJECT-23791230
[Journal Article] Agile parallel bioinformatics workflow management using Pwrake2011
- Author(s)
  Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura KI
- Journal Title
  
  BMC Res Notes Sep
  
  Volume: 8 Pages: 331-331
- NAID
  120006985006
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Agile parallel bioinformatics workflow management using Pwrake2011
- Author(s)
  Mishima H, Sasaki K, Tanaka M, Tatebe O, Yoshiura KI.
- Journal Title
  
  BMC Res Notes Sep 8
  
  Volume: 4(1) Pages: 331-331
- NAID
  120006985006
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
- Author(s)
  Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana
- Journal Title
  
  ProcNatlAcadSci
  
  Volume: 108(36) Pages: 14914-14919
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Agile parallel bioinformatics workflow management using Pwrake2011
- Author(s)
  Mishima, et al
- Journal Title
  
  BMC Res Notes
  
  Volume: 4(1) Issue: 1 Pages: 331-331
- DOI
  10.1186/1756-0500-4-331
- NAID
  120006985006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390100, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23791230
[Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis2011
- Author(s)
  Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H
- Journal Title
  
  PLos One
  
  Volume: 6(5)
- NAID
  120006985084
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] An assembly defect due to a PSMB8 mutation reduces proteasome activity and causes autoinflammatory disorder, Nakajo-Nishimura syndrome2011
- Author(s)
  Arima K, Kinoshita A, Mishima H, Kanazawa N, KanekoT, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tana K, Niikawa N, Furukawa F, Shigeo Murata S, Eguchi K, Ida H, Yoshiura K
- Journal Title
  
  Proc Natl Acad Sci
  
  Volume: 108(36) Pages: 14914-14919
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis2011
- Author(s)
  Kurotaki, et al
- Journal Title
  
  PLos One
  
  Volume: 6(5) Issue: 5 Pages: e20589-e20589
- DOI
  10.1371/journal.pone.0020589
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21390100, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23791230
[Journal Article] Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome2011
- Author(s)
  Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 478-483
- Data Source
  KAKENHI-PROJECT-21390100
[Journal Article] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis2011
- Author(s)
  Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Hiroki Ozawa H.
- Journal Title
  
  PLos One
  
  Volume: 6(5)
- NAID
  120006985084
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] Assembly defect due to a PSMB8 mutation reduces proteasome activity and causes the autoinflammatory disorder, Nakajo-Nishimura syndrome2011
- Author(s)
  Arima, K., Kinoshita, A., Mishima, H., Kanazawa, N., Kaneko, T., Mizushima, T., Ichinose, K., Nakamura, H., Tsujino, A., Kawakami, A., Matsunaka, M., Kasagi, S., Kawano, S., Kumagai, S., Ohmura, K., Mimori, T., Hirano, M., Ueno, S., Tanaka, K., Tanaka, M., Toyoshima, I., Sugino, H., Yamakawa, A., Tanaka, K., Niikawa, N., Furukawa, F., Murata, S., Eguchi, K., Ida, H., Yoshiura, K.
- Journal Title
  
  Proc.Natl.Acad.Sci.USA
  
  Volume: 108 Issue: 36 Pages: 14914-14919
- DOI
  10.1073/pnas.1106015108
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21000012, KAKENHI-PROJECT-21591097, KAKENHI-PROJECT-22591094, KAKENHI-PROJECT-22659071, KAKENHI-PROJECT-23500455, KAKENHI-PROJECT-23591651, KAKENHI-PROJECT-23657083, KAKENHI-PROJECT-23791115, KAKENHI-PROJECT-23791230
[Journal Article] Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysis2011
- Author(s)
  Kurotaki N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshiura K, Ozawa H
- Journal Title
  
  PLoS one
  
  Volume: 6(5)
- NAID
  120006985084
- Data Source
  KAKENHI-PROJECT-22591263
[Journal Article] Maternal uniparentalisodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome2011
- Author(s)
  Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura K-i, Harada N.
- Journal Title
  
  Clin Genet
  
  Volume: 80 Pages: 478-483
- Data Source
  KAKENHI-PROJECT-22659071
[Journal Article] DNAマイクロアレイを用いた統合失調症のホモ接合マッピング2010
- Author(s)
  黒滝直弘, 三嶋博之, 田崎信也, 菊池妙子, 西田奈央, 徳永勝士, 吉浦孝一郎, 小澤寛樹
- Journal Title
  
  精神薬療研究年報
  
  Volume: 42 Pages: 31-32
- Data Source
  KAKENHI-PROJECT-22591263
[Presentation] 「パタカラプラス」の自動評価2024
- Author(s)
  三嶋博之
- Organizer
  第36回日本ダウン症療育研究会
- Invited
- Data Source
  KAKENHI-PROJECT-21K07800
[Presentation] (O-15) T2T完全長ヒト参照ゲノムを用いた全ゲノムシークエンシングのためのアノテーションワークフローの開発2023
- Author(s)
  三嶋博之, 吉浦孝一郞
- Organizer
  第30回日本遺伝子診療学会大会・第8回クリニカルバイオバンク学会シンポジウム合同学術集会
- Data Source
  KAKENHI-PROJECT-21K07800
[Presentation] 希少疾患ゲノム解析における最近の潮流2022
- Author(s)
  三嶋博之
- Organizer
  ポストコッホ生態研究集会＠長崎大学
- Invited
- Data Source
  KAKENHI-PROJECT-21K07800
[Presentation] 先天性形態異常症候群の診断補助システムの現状2021
- Author(s)
  三嶋博之
- Organizer
  第58回日本小児外科学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-21K07800
[Presentation] (SY12-3) 先天性形態異常症候群の顔貌画像による診断補助の現状2020
- Author(s)
  三嶋博之
- Organizer
  日本人類遺伝学会第 65 回大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] (OE13-3) PatakaraPlus: The project for individuals with Down Syndrome to develop oral and physical training and evaluation2020
- Author(s)
  Hiroyuki Mishima, Tetsuro Kitahara, Koh-Ichiro Yoshiura, Tomoko Komatsu, Masaichi Lee, Tatsuro Kondoh
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] (P-20) Direct detection of genomic DNA methylation using Nanopore long-read seqiencing technology2020
- Author(s)
  Hiroyuki Mishima, Yo Hamaguchi, Koh-ichiro Yoshiura
- Organizer
  放射線災害・医科学研究拠点第4回シンポジウム
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] Detection of genomic structural variations in monozygotic twins using Nanopore long-read sequencing technology2019
- Author(s)
  Hiroyuki Mishima, Shintaro Yoshida, Yoshiro Morimoto, Shinji Ono, Akira Kinoshita, Akira Imamura, Hiroki Ozawa, Koh-ichiro Yoshiura
- Organizer
  放射線障害・医科学研究拠点第3回国際シンポジウム
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 顔貌画像を用いた先天性形態異常症候群の診断補助システムの現状2019
- Author(s)
  三嶋博之
- Organizer
  第28回日本小児泌尿器科楽器総会・学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] (2605/T) Detection of structural variations in monozygotic twins using Nanopore long-read sequencing technology2019
- Author(s)
  H. Mishima; S. Yoshida; Y. Morimoto; S. Ono; A. Kinoshita; A. Imamura; H. Ozawa; K.-I. Yoshiura
- Organizer
  American Society of Human Genetics 2019 Annual Meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 歯科医学・ゲノム医療・人工知能2019
- Author(s)
  三嶋博之
- Organizer
  北日本口腔インプラント研究会2019年度第32回北海道地区口腔インプラント臨床コロキウム
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] (P25-9)本邦における先天性形態異常症候群患者の顔貌画像を用いた診断補助システムFace2Geneの評価2019
- Author(s)
  三嶋博之，鈴木寿人，吉浦孝一郎，近藤達郎，小崎健次郎
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 患者顔貌画像による先天性形態異常症候群診断補助システムFace2Geneの本邦症例を用いた性能評価2019
- Author(s)
  三嶋博之，鈴木寿人，近藤達郎，吉浦孝一郎，小崎健次郎
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] Evaluation of Face2Gene using facial images of patients with congeneital dysmorphic syndromes recruited in Japan2019
- Author(s)
  Hiroyuki Mishima
- Organizer
  The 30th Fukuoka International Symposium on Pediatric/Maternal-Child Health Research
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan2019
- Author(s)
  三嶋博之
- Organizer
  第59回日本先天異常学会学術＋第13回国際口唇口蓋裂協会世界会議
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 先天性形態異常症候群診断補助システムFace2Geneの本邦症例を用いた性能評価2019
- Author(s)
  三嶋博之，近藤達郎，鈴木寿人，吉浦孝一郎，小崎健次郎
- Organizer
  第1回日本メディカルAI学会学術集会
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 乳癌患者における血漿遊離DNA (cfDNA)濃度と血漿循環腫瘍DNA (ctDNA)の解析2019
- Author(s)
  及川将弘、瀬戸口優美香、榎本康子、久松和史、及川達司、濵田哲夫、大坪竜太、松本恵、矢野洋、永安武、三嶋博之、木下晃、吉浦孝一郎
- Organizer
  2019年度日本人追遺伝学会学術総会
- Data Source
  KAKENHI-PROJECT-19K09075
[Presentation] Unbiased copy number analysis of circulating tumor DNA among HER2-positive breast cancer patients2019
- Author(s)
  Masahiro Oikawa, Yasuko Enomoto, Kazuhumi Hisamatsu, Tetsuo Hamada, Ryota Otsubo, Hiroshi Yano, Takeshi Nagayasu, Hiroyuki Mishima, Koh-ichiro Yoshiura and Nicholas Navin
- Organizer
  2019 San Antonio Breast Cancer Symposium
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K09075
[Presentation] 先天性形態異常症候群の顔貌解析システムFace2Geneの本邦症例に対する性能評価2019
- Author(s)
  三嶋博之
- Organizer
  ROIS-DS-JOINT共同研究集会「希少疾患インフォマティクス：情報保護・情報共有・社会実装」
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] GridIONを使ったヒトゲノム構造バリエーション解析の実際2018
- Author(s)
  三嶋博之
- Organizer
  GridIONを使ったヒトゲノム構造バリエーション解析の実際, オックスフォード・ナノポア現場の会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 低depth全ゲノムシークエンシングによるコピー数バリエーション検出の性能評価2018
- Author(s)
  三嶋博之, 吉浦孝一郎
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 患者顔貌画像による先天性形態異常症候群診断補助システムFace2Geneの本邦症例を用いた性能評価2018
- Author(s)
  三嶋博之，近藤達郎，鈴木寿人，吉浦孝一郎，小崎健次郎
- Organizer
  日本小児学会長崎地方会
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] 情報共有が可能とする稀少疾患ゲノム解析2018
- Author(s)
  三嶋博之
- Organizer
  第60回歯科基礎医学会学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K07850
[Presentation] io-Virtuoso: A package of Docker containers for multiple source data retrieval, RDF conversion, and triplesore deployment in a simplified manner.2016
- Author(s)
  Hiroyuki Mishima, Koh-ichiro Yoshiura
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都府京都国際会館
- Year and Date
  2016-04-02
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] Exomiserを用いたエクソーム解析ワークフローと支援ツールの開発2015
- Author(s)
  三嶋博之，吉浦孝一郎
- Organizer
  日本人類遺伝学会第６０回大会
- Place of Presentation
  東京都京王プラザホテル
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] ヒトの遺伝学と低酸素生物学はデータベース生物学の夢をみるか？2015
- Author(s)
  三嶋博之
- Organizer
  第13回がんとハイポキシア研究会
- Place of Presentation
  三島市国立遺伝学研究所
- Year and Date
  2015-06-06
- Invited
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] （1-2）Exomiserを用いた知識ベース疾患原因変異探索のためのワークフロー2015
- Author(s)
  三嶋博之，吉浦孝一郎
- Organizer
  NGS現場の会第四回研究会
- Place of Presentation
  つくば市つくば国際会議場
- Year and Date
  2015-07-01
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] 次世代シークエンサーで挑む口唇口蓋裂と乳歯歯胚異常の遺伝学2014
- Author(s)
  三嶋博之
- Organizer
  北海道大学大学院歯学研究科歯学研究セミナー
- Place of Presentation
  札幌市北海道大学
- Year and Date
  2014-05-16
- Invited
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] 多発性歯牙腫合併症例を含むSATB2遺伝子変異症候群の新規変異の同定2014
- Author(s)
  三嶋博之
- Organizer
  日本人類遺伝学会第５９回大会
- Place of Presentation
  東京都江戸川区タワーホール深堀
- Year and Date
  2014-11-20
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] (2-47-B) TogoWS RESTサービスによるUCSCゲノムデータベースの利用2013
- Author(s)
  三嶋博之，西澤達也，片山俊明
- Organizer
  NGS現場の会第三回研究会
- Place of Presentation
  神戸市神戸国際会議場
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] 5500 SOLiDを使ったヒトエクソーム解析データ処理の実際2012
- Author(s)
  三嶋博之
- Organizer
  NGS現場の会第二回研究会
- Place of Presentation
  大阪市ホテル阪急エキスポパーク
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] ヒトゲノム変異解析ワークフローにおける公共データベース活用2012
- Author(s)
  三嶋博之
- Organizer
  第３５回日本分子生物学会年会
- Place of Presentation
  福岡市福岡国際会議場・マリンメッセ福岡
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] Biogem, Ruby UCSC API, and Bioruby2012
- Author(s)
  Hiroyuki Mishima, Raoul J.P. Bonnal, Naohisa Goto, Francesco Strozzi, Toshiaki Katayama, Pjotr Prins
- Organizer
  The 13th Annual Bioinformatics Open Source Conference
- Place of Presentation
  Long Beach Convention Center, Long Beach, CA, USA
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] (教育講演６）次世代シークエンサーを用いたDisease Gene Hunting2012
- Author(s)
  三嶋博之
- Organizer
  第２４回日本小児口腔外科学会総会・学術大会
- Place of Presentation
  名古屋市愛知学院大学
- Invited
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] Hiroyuki Mishima, Raoul J.P. Bonnal, Naohisa Goto, Francesco Strozzi, Toshiaki Katayama, Pjotr Prins2012
- Author(s)
  Hiroyuki Mishima, Raoul J.P. Bonnal, Naohisa Goto, Francesco Strozzi, Toshiaki Katayama, Pjotr Prins
- Organizer
  The 13th Annual Bioinformatics Open Source Conference
- Place of Presentation
  Long Beach Convention Center, Long Beach, CA, USA
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] 5500 SOLiD を使ったヒトエクソーム解析データ処理の実際2012
- Author(s)
  三嶋博之
- Organizer
  NGS現場の会第二回研究会
- Place of Presentation
  大阪市ホテル阪急エキスポパーク
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] 次世代シークエンサーを用いたDisease Gene Hunting2012
- Author(s)
  三嶋博之
- Organizer
  第24回日本小児口腔外科学会総会・学術大会
- Place of Presentation
  名古屋市愛知学院大学
- Year and Date
  2012-11-24
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] The Ruby UCSC API: accessing the UCSC Genome Database using Ruby2012
- Author(s)
  Hiroyuki Mishima, Jan Aerts, Toshiaki Katayama, Raoul J.P. Bonnal, Koh-ichiro Yoshiura
- Organizer
  20th Annual International Conference on Intelligent Systems for Molecular Biology
- Place of Presentation
  Long Beach Convention Center, Long Beach, CA, USA
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] ヒトゲノム変異解析ワークフローにおける公共データベース活用2012
- Author(s)
  三嶋博之, 吉浦孝一郎
- Organizer
  第35回日本分子生物学会年会
- Place of Presentation
  福岡市福岡国際会議場・マリンメッセ福岡
- Year and Date
  2012-12-13
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] ホモ接合マッピングによる統合失調症の感受性遺伝子の同定2011
- Author(s)
  黒滝直弘, 田崎真也, 三嶋博之, 小野慎治, 今村明, 菊池妙子, 西田奈央, 徳永勝士, 吉浦孝一郎, 小澤寛樹
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  幕張メッセ(千葉県)
- Data Source
  KAKENHI-PROJECT-22591263
[Presentation] Identification of Novel Schizophrenia Loci by Homozygosity Mapping Using DNA Microarray Analysis2011
- Author(s)
  Kurotak N, Tasaki S, Mishima H, Ono S, Imamura A, Kikuchi T, Nishida N, Tokunaga K, Yoshira K, Ozawa, H
- Organizer
  The 61st Annual Meeting of the American Society of Human Genetics
- Place of Presentation
  Montreal, Canada
- Data Source
  KAKENHI-PROJECT-22591263
[Presentation] The Ruby UCSC API: accessing the UCSC Genome Database using Ruby2011
- Author(s)
  Mishima H, Aerts J, Yoshiura K
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  横浜市パシフィコ横浜
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] Pwrakeを使ったヒト変異解析ワークフロー管理2011
- Author(s)
  三嶋博之
- Organizer
  次世代シークエンサ現場の会第一回研究会
- Place of Presentation
  熱海市
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] The Ruby UCSC SPI : accessing the UCSC Genoe Database using Ruby2011
- Author(s)
  Mishima, et al
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜
- Data Source
  KAKENHI-PROJECT-21390100
[Presentation] SNPマイクロアレイを用いたホモザイゴシティマツピング2011
- Author(s)
  三嶋博之, 黒滝直弘, 木下晃, 金澤伸雄, 井田弘明, 吉浦孝一郎
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  幕張メッセ(千葉県)
- Data Source
  KAKENHI-PROJECT-22591263
[Presentation] SNPマイクロアレイを用いたホモザイゴシティーマッピング2011
- Author(s)
  三嶋博之, その他
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  幕張メッセ
- Data Source
  KAKENHI-PROJECT-22659071
[Presentation] SNPマイクロアレイを用いたホモザイゴシティーマッピング2011
- Author(s)
  三嶋博之, その他
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  幕張メッセ
- Data Source
  KAKENHI-PROJECT-21390100
[Presentation] SNPマイクロアレイを用いたホモザイゴシティマッピング2011
- Author(s)
  三嶋博之, 黒滝直弘, 木下晃, 金澤伸雄, 井田弘明, 吉浦孝一郎
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉市幕張メッセ
- Data Source
  KAKENHI-PROJECT-23791230
[Presentation] The Ruby UCSC SPI : accessing the UCSC Genoe Database using Ruby2011
- Author(s)
  Mishima, et al
- Organizer
  第34回日本分子生物学会年会
- Place of Presentation
  パシフィコ横浜
- Data Source
  KAKENHI-PROJECT-22659071
[Presentation] 唇裂口蓋裂のGenome-wide association study.2010
- Author(s)
  引田正宣, 津田雅由, 佐々木健作, 三嶋博之, 田和加, 夏目長門, 内山健志, 平野明喜, 木下晃, 吉浦孝一郎
- Organizer
  第55回日本人類遺伝学会
- Place of Presentation
  大宮ソニックシティー,大宮OP15-075
- Year and Date
  2010-10-27
- Data Source
  KAKENHI-PROJECT-21791566
[Presentation] Key-value storeを用いた大規模ゲノムデータ処理の高速化2010
- Author(s)
  三嶋博之, 吉浦孝一郎
- Organizer
  第33回日本分子生物学会年会・第83回日本生化学学会大会合同大会
- Place of Presentation
  神戸市
- Year and Date
  2010-12-09
- Data Source
  KAKENHI-PROJECT-21791566
[Presentation] Key-value storeを用いた大規模ゲノムデータ処理の高速化2010
- Author(s)
  三嶋博之
- Organizer
  日本分子生物学会
- Place of Presentation
  神戸ポートアイランド
- Year and Date
  2010-12-09
- Data Source
  KAKENHI-PROJECT-21390100
[Presentation] 唇裂口蓋裂のGenome-wide association study.2010
- Author(s)
  引田正宣, 津田雅由, 佐々木健作, 三嶋博之, 吉田和加, 夏目長門, 内山健志, 平野明喜, 木下晃, 吉浦孝一郎
- Organizer
  日本人類遺伝学会
- Place of Presentation
  大宮ソニックシティー
- Year and Date
  2010-10-29
- Data Source
  KAKENHI-PROJECT-22659071
[Presentation] Gene Hunting: できること・できないこと
- Author(s)
  三嶋博之
- Organizer
  生命医薬情報学連合大会
- Place of Presentation
  東京都江戸川区タワーホール深堀
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] A mutation of the immunoproteasome subunit gene causes a novel autoinflammatory disorder Nakajo-Nishimura syndrome (familial Japanase fever).
- Author(s)
  Kanazawa Nobuo, Kazuhiro Arima, Hiroyuki Mishima, Fukumi Furukawa, Hiroaki Ida, Koh-ichiro Yoshiura.
- Organizer
  C01-02
- Data Source
  KAKENHI-PROJECT-21791566
[Presentation] A mutation of the immunoproteasome subunit gene causes a novel autoinflammatory disorder Nakajo-Nishimura syndrome (familial Japanese fever)
- Author(s)
  Kanazawa Nobuo, Takehiko Sugihara, Hiroyuki Mishima, Fukumi Furukawa, Hiroaki Ida, Koh-ichiro Yoshiura.
- Organizer
  P02-05
- Data Source
  KAKENHI-PROJECT-21791566
[Presentation] 公開セッション第一部・個人ゲノム解析技術の現在と未来／解析結果
- Author(s)
  三嶋博之
- Organizer
  生命医薬情報学連合大会
- Place of Presentation
  仙台市仙台国際センター
- Year and Date
  2014-10-02 – 2014-10-04
- Invited
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] （O44）TogoWS REST サービスによるUCSCゲノムデータベースの利用
- Author(s)
  三嶋博之，西澤達也，吉浦孝一郎，片山俊明
- Organizer
  日本人類遺伝学会第５８回大会
- Place of Presentation
  仙台市江陽グランドホテル
- Data Source
  KAKENHI-PROJECT-25430183
[Presentation] Handmaid Building of a High-Performance Computing Cluster and a Storage System for Bioinformatics
- Author(s)
  Hiroyuki Mishima
- Organizer
  生命医薬情報学連合大会
- Place of Presentation
  仙台市仙台国際センター
- Year and Date
  2014-10-02 – 2014-10-04
- Data Source
  KAKENHI-PROJECT-25430183

1. YOSHIURA Koichiro (00304931)

# of Collaborated Projects: 4 results

# of Collaborated Products: 46 results
2. KINOSHITA Akira (60372778)

# of Collaborated Projects: 2 results

# of Collaborated Products: 8 results
3. TSUJINO Akira (70423639)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
4. OGI Tomoo (80508317)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. ARIMA Kazuhiko (30423635)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
6. NIIKAWA Norio (00111170)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
7. OTA Toru (10223835)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
8. IDA Hiroaki (60363496)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
9. KANAZAWA Nobuo (90343227)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
10. MIURA Kiyonori (00363490)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
11. KUROTAKI Naohiro (20423634)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
12. OZAWA Hiroki (50260766)

# of Collaborated Projects: 1 results

# of Collaborated Products: 4 results
13. IMAMURA Akira (40325642)

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
14. KATAYAMA Toshiaki (60396869)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
15. OIKAWA Masahiro (90612416)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
16. 阿部修平 (50549590)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
17. 矢野洋 (50380887)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
18. 大坪竜太 (80570043)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
19. 永安武 (80284686)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
20. SASAKI Kensaku

# of Collaborated Projects: 1 results

# of Collaborated Products: 3 results
21. AIZAWA Yoshiyasu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. KUMAI Yoshihiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. IMAI Kohsuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 田村志宣

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 木下直江

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
27. 豊田太

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 小野慎治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 吉田晴郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 佐藤智生

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 宮明寿光

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 市田蕗子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 村田茂穂

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
34. 田中啓二

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
35. 坂口美亜子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
36. 古田浩人

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
37. 邊見弘明

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
38. 濱崎純

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

MISHIMA Hiroyuki 三嶋 博之

Research Projects

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Co-Researchers

Implementing Pangenome-Based Whole Genome Analysis of Structural Variations for Rare DiseasesPrincipal Investigator

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Implementation of 3-D Facial Image-based Diagnosis Assistance of Ultrarare Congenital Malformation SyndromesPrincipal Investigator

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Exploration of Novel Diagnostic and Therapeutic Approaches for Breast Cancer Using an Innovative Liquid Biopsy Method

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Clinical Genetics Knowledge Sharing System for Congenital Rare Disease Deep Phenotyping Overcoming the "30% limit" of DiagnosisPrincipal Investigator

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Development of Integrated Annotation Workflows for Human Whole Genome SequencingPrincipal Investigator

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Genomics Approach to orofacial clefts focusing theubiquitin-proteasome systemPrincipal Investigator

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Approach to the rare variation hypothesis of the psychiatric disorderby a next generation type ultra high-speed sequencer

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Identification of microUPD and analysis of DNA repair in early development

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Mapping of the disease loci using SNP genotyping and identification of the gene by the sequence capture method

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Individual cervical cancer susceptibility and genomic structural variations of the defensin genesPrincipal Investigator

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[Book] 次世代シークエンサーDRY解析教本：1-2 コマンドラインの使い方2015

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[Book] 実験医学増刊・今日から使えるデータベース・ウェブツール達人になるための実線ガイド1002014

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[Journal Article] Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model2023

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[Journal Article] Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis2023

MISHIMA Hiroyuki 三嶋博之

[Journal Article] AIによる先天異常症候群の診断支援（特集・小児外科を取り巻く最新テクノロジー）2022