Takata Atsushi 高田篤

Researcher Number	90643693
Other IDs
Affiliation (Current)	2021: 国立研究開発法人理化学研究所, 脳神経科学研究センター, チームリーダー
Affiliation (based on the past Project Information) *help	2020 – 2021: 国立研究開発法人理化学研究所, 脳神経科学研究センター, チームリーダー 2016 – 2019: 横浜市立大学, 医学部, 講師 2015: 国立研究開発法人理化学研究所, 脳科学総合研究センター, 研究員
Review Section/Research Field	Principal Investigator Psychiatric science / Transformative Research Areas, Section (III) / Basic Section 52030:Psychiatry-related Except Principal Investigator Transformative Research Areas, Section (III)
Keywords	Principal Investigator 統合失調症 / デノボ変異 / クロマチン / 選択的スプライシング / ゲノム / 遺伝学 / 精神医学 / 神経科学 / GWAS / QTL … More Except Principal Investigator アウトリーチ / シンポジウム / ワークショップ / 領域会議 Less

双極性障害大規模シーケンス解析による稀な生殖細胞系列変異と体細胞変異の包括的研究Principal Investigator
- Principal Investigator
  
  高田篤
- Project Period (FY)
  2021 – 2023
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Review Section
  
  Basic Section 52030:Psychiatry-related
- Research Institution
  Institute of Physical and Chemical Research
クラスタ/ハブダイナミズムの決定剛軟因子探索における総括研究
- Principal Investigator
  
  村山正宜
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Transformative Research Areas (B)
- Review Section
  
  Transformative Research Areas, Section (III)
- Research Institution
  Institute of Physical and Chemical Research
クラスタ/ハブ細胞を決定する遺伝子・鍵分子経路の特定およびヒト疾患との関連解析Principal Investigator
- Principal Investigator
  
  高田篤
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Transformative Research Areas (B)
- Review Section
  
  Transformative Research Areas, Section (III)
- Research Institution
  Institute of Physical and Chemical Research
Comprehensive analysis of splicing regulation and splicing quantitative trait loci (sQTL) in brains of major psychosesPrincipal Investigator
- Principal Investigator
  
  Takata Atsushi
- Project Period (FY)
  2016 – 2019
- Research Category
  
  Grant-in-Aid for Young Scientists (A)
- Research Field
  
  Psychiatric science
- Research Institution
  Yokohama City University
Target resequencing of SETD1A, a strong candidate gene for schizophrenia with exome-wide significance, using the next generation sequencerPrincipal Investigator
- Principal Investigator
  
  高田篤
- Project Period (FY)
  2015
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Psychiatric science
- Research Institution
  Institute of Physical and Chemical Research

All 2021 2020 2019 2018 2017 2016 2015

All Journal Article Presentation

[Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy2021
- Author(s)
  Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N and Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Pages: 401-407
- DOI
  10.1038/s10038-020-00853-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921
[Journal Article] Refinement of the clinical variant interpretation framework by statistical evidence and machine learning2021
- Author(s)
  Takata Atsushi、Hamanaka Kohei、Matsumoto Naomichi
- Journal Title
  
  Med
  
  Volume: -
- DOI
  10.1016/j.medj.2021.02.003
- Peer Reviewed
- Data Source
  KAKENHI-PLANNED-20H05777
[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021
- Author(s)
  Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
- Journal Title
  
  Human Mutation
  
  Volume: 42 Pages: 66-76
- DOI
  10.1002/humu.24130
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865
[Journal Article] Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses2021
- Author(s)
  Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
- Journal Title
  
  Hum Mutat
  
  Volume: 42 Pages: 50-65
- DOI
  10.1002/humu.24129
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K16921, KAKENHI-PROJECT-19K17865
[Journal Article] Whole exome sequencing of fetal structural anomalies detected by ultrasonography2021
- Author(s)
  Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A and Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 66 Pages: 499-507
- DOI
  10.1038/s10038-020-00869-8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08164, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19K17865
[Journal Article] De novo ATP1A3 variants cause polymicrogyria2021
- Author(s)
  Miyatake S
- Journal Title
  
  Sci Adv
  
  Volume: 7 Pages: 1-17
- DOI
  10.1126/sciadv.abd2368
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-20K06893, KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-20K08236, KAKENHI-PROJECT-19K22601, KAKENHI-PROJECT-18K15677, KAKENHI-PUBLICLY-19H04795, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H03641, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-19K16921
[Journal Article] The identification of two pathogenic variants in a family with mild and severe forms of developmental delay2020
- Author(s)
  Miyake Noriko、Heydari Shermineh、Garshasbi Masoud、Saitoh Shinji、Nasiri Jafar、Hamanaka Kohei、Takata Atsushi、Matsumoto Naomichi、Beheshti Farnaz Hosseini、Chaleshtori Ahmad Reza Salehi
- Journal Title
  
  J Hum Genet
  
  Volume: 66 Pages: 445-448
- DOI
  10.1038/s10038-020-0809-8
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-20H05700, KAKENHI-PROJECT-19H03621
[Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia2020
- Author(s)
  Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N.
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Pages: 43-43
- DOI
  10.1038/s41439-020-00131-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K07907, KAKENHI-PROJECT-20K08164, KAKENHI-PROJECT-19K17307, KAKENHI-PLANNED-20H05777, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-19K17865
[Journal Article] 精神神経疾患のレアバリアント研究2020
- Author(s)
  高田篤
- Journal Title
  
  医学のあゆみ
  
  Volume: 272 Pages: 1200-1205
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP12019
- Author(s)
  Saida Ken、Kim Chong Ae、Ceroni Jos? Ricardo Magliocco、Bertola Debora Romeo、Honjo Rachel Sayuri、Mitsuhashi Satomi、Takata Atsushi、Mizuguchi Takeshi、Miyatake Satoko、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Pages: 885-890
- DOI
  10.1038/s10038-019-0626-0
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE212019
- Author(s)
  Mizuguchi Takeshi、Nakashima Mitsuko、Moey Lip H.、Ch’ng Gaik S.、Khoo Teik-Beng、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Pages: 347-350
- DOI
  10.1038/s10038-018-0556-2
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254
[Journal Article] Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Beh?et’s disease2019
- Author(s)
  Tsuchida Naomi、Kirino Yohei、Soejima Yutaro、Onodera Masafumi、Arai Katsuhiro、Tamura Eiichiro、Ishikawa Takashi、Kawai Toshinao、Uchiyama Toru、Nomura Shigeru、Kobayashi Daisuke、Taguri Masataka、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Nakajima Hideaki、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Arthritis Research & Therapy
  
  Volume: 21 Pages: 137-137
- DOI
  10.1186/s13075-019-1928-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-19H03700
[Journal Article] Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setdla-Deficient Mice2019
- Author(s)
  Mukai J, Cannavo E, Crabtree GW, Sun Z, Diamantopoulou A, Thakur P, Chang CY, Cai Y, Lomvardas S, Takata A, Xu B, Gogos JA.
- Journal Title
  
  Neuron
  
  Volume: 104 Pages: 471-487
- DOI
  10.1016/j.neuron.2019.09.014
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16H06276
[Journal Article] SOFT syndrome in a patient from Chile.2019
- Author(s)
  Saida Ken、Silva Sebastian、Solar Benjamin、Fujita Atsushi、Hamanaka Kohei、Mitsuhashi Satomi、Koshimizu Eriko、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Am J Med Genet A
  
  Volume: 179 Pages: 338-340
- DOI
  10.1002/ajmg.a.61015
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Comparison of mitochondrial DNA variants detection using short- and long-read sequencing2019
- Author(s)
  Alkanaq Ahmed N.、Hamanaka Kohei、Sekiguchi Futoshi、Taguri Masataka、Takata Atsushi、Miyake Noriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Pages: 1107-1116
- DOI
  10.1038/s10038-019-0654-9
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.2019
- Author(s)
  Takata Atsushi、Nakashima Mitsuko、Saitsu Hirotomo、Osaka Hitoshi、Nakamura Kazuyuki、Takeshita Saoko、Sakai Yasunari、Miyake Noriko、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Nat Commun
  
  Volume: 10 Pages: 2506-2506
- DOI
  10.1038/s41467-019-10482-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19K08281, KAKENHI-PROJECT-19K08289, KAKENHI-PROJECT-19K08322, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080
[Journal Article] Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant2019
- Author(s)
  Uchiyama Yuri、Kim Chong A、Pastorino Antonio Carlos、Ceroni Jos?、Lima Patricia Picciarelli、de Barros Dorna Mayra、Honjo Rachel Sayuri、Bertola D?bora、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Pages: 955-960
- DOI
  10.1038/s10038-019-0631-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] A novel de novo frameshift variant in SETD1B causes epilepsy2019
- Author(s)
  Den Kouhei、Kato Mitsuhiro、Yamaguchi Tokito、Miyatake Satoko、Takata Atsushi、Mizuguchi Takeshi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
- Journal Title
  
  J Hum Genet
  
  Volume: 64 Pages: 821-827
- DOI
  10.1038/s10038-019-0617-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma2019
- Author(s)
  Fujita Atsushi、Higashijima Takefumi、Shirozu Hiroshi、Masuda Hiroshi、Sonoda Masaki、Tohyama Jun、Kato Mitsuhiro、Nakashima Mitsuko、Tsurusaki Yoshinori、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyatake Satoko、Miyake Noriko、Fukuda Masafumi、Kameyama Shigeki、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Neurology
  
  Volume: 93
- DOI
  10.1212/wnl.0000000000007774
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17K19536
[Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development.2019
- Author(s)
  Hamanaka K、Takata A、Uchiyama Y、Miyatake S、Miyake N、Mitsuhashi S、Iwama K、Fujita A、Imagawa E、Alkanaq AN、Koshimizu E、Azuma Y、Nakashima M、Mizuguchi T、Saitsu H、Wada Y、Minami S、Katoh-Fukui Y、Masunaga Y、Fukami M、Hasegawa T、Ogata T、Matsumoto N
- Journal Title
  
  Hum Mol Genet
  
  Volume: 印刷中 Pages: 2319-2329
- DOI
  10.1093/hmg/ddz066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K06926, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17K15630, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K10080
[Journal Article] RALA mutation in a patient with autism spectrum disorder and Noonan syndrome‐like phenotype2019
- Author(s)
  Okamoto Nobuhiko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Congenital Anomalies
  
  Volume: 59 Issue: 6 Pages: 195-196
- DOI
  10.1111/cga.12327
- NAID
  210000012753
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report2019
- Author(s)
  Den Kouhei、Kudo Yosuke、Kato Mitsuhiro、Watanabe Kosuke、Doi Hiroshi、Tanaka Fumiaki、Oguni Hirokazu、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
- Journal Title
  
  BMC Neurology
  
  Volume: 19 Pages: 253-253
- DOI
  10.1186/s12883-019-1489-x
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-19H03621, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-16K09975, KAKENHI-PROJECT-17K10080
[Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.2019
- Author(s)
  Hamanaka Kohei、Sugawara Yuji、Shimoji Takeyoshi、Nordtveit Tone Irene、Kato Mitsuhiro、Nakashima Mitsuko、Saitsu Hirotomo、Suzuki Toshimitsu、Yamakawa Kazuhiro、Aukrust Ingvild、Houge Gunnar、Miyatake Satoko、Matsumoto Naomichi、et al.
- Journal Title
  
  Eur J Hum Genet
  
  Volume: 27 Pages: 378-383
- DOI
  10.1038/s41431-018-0289-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] .Biallelic COLGALT1 variants are associated with cerebral small vessel disease.2018
- Author(s)
  Miyatake Satoko、Schneeberger Sacha、Koyama Norihisa、Yokochi Kenji、Ohmura Kayo、、Hennet Thierry、Matsumoto Naomichi、et al
- Journal Title
  
  Ann Neurol
  
  Volume: 84 Pages: 843-853
- DOI
  10.1002/ana.25367
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.2018
- Author(s)
  Miyatake Satoko、Kato Mitsuhiro、Sawaishi Yukio、Saito Takashi、Nakashima Mitsuko、Mizuguchi Takeshi、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Matsumoto Naomichi
- Journal Title
  
  Ann Neurol.
  
  Volume: 84 Pages: 159-161
- DOI
  10.1002/ana.25256
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia.2018
- Author(s)
  Iwama Kazuhiro、Osaka Hitoshi、Ikeda Takahiro、Mitsuhashi Satomi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Ito Shuichi、Mizuguchi Takeshi、Matsumoto Naomichi
- Journal Title
  
  J Hum Genet.
  
  Volume: 63 Pages: 1049-1054
- DOI
  10.1038/s10038-018-0488-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] Novel SUZ12 mutations in Weaver-like syndrome.2018
- Author(s)
  Imagawa Eri、Albuquerque Edoarda V.A.、Isidor Bertrand、Mitsuhashi Satomi、Mizuguchi Takeshi、Miyatake Satoko、Takata Atsushi、Miyake Noriko、Boguszewski Margaret C.S.、Boguszewski C?sar L.、Lerario Antonio M.、Funari Mariana A.、Jorge Alexander A.L.、Matsumoto Naomichi
- Journal Title
  
  Clin Genet.
  
  Volume: 94 Pages: 461-466
- DOI
  10.1111/cge.13415
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] Estimating contribution of rare non-coding variants to neuropsychiatric disorders2018
- Author(s)
  Takata Atsushi
- Journal Title
  
  Psychiatry and Clinical Neurosciences
  
  Volume: 73 Pages: 2-10
- DOI
  10.1111/pcn.12774
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] PRUNE1-related disorder: Expanding the clinical spectrum.2018
- Author(s)
  Imagawa E.、Yamamoto Y.、Mitsuhashi S.、Isidor B.、Fukuyama T.、Kato M.、Sasaki M.、Tanabe S.、Miyatake S.、Mizuguchi T.、Takata A.、Miyake N.、Matsumoto N.
- Journal Title
  
  Clin Genet.
  
  Volume: 94 Pages: 362-367
- DOI
  10.1111/cge.13385
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder2018
- Author(s)
  Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
- Journal Title
  
  Cell Rep
  
  Volume: 22(3) Pages: 734-747
- DOI
  10.1016/j.celrep.2017.12.074
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10248, KAKENHI-PROJECT-17K19536, KAKENHI-PROJECT-15H04889, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-16H05375, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06747, KAKENHI-PROJECT-16K19626, KAKENHI-PROJECT-18K07893, KAKENHI-PROJECT-16H01880, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17K15630
[Journal Article] A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.2018
- Author(s)
  Fukuda Hiroyuki、Imagawa Eri、Hamanaka Kohei、Fujita Atsushi、Mitsuhashi Satomi、Miyatake Satoko、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Kramer Uri、Matsumoto Naomichi、Fattal-Valevski Aviva
- Journal Title
  
  J Hum Genet.
  
  Volume: 63 Pages: 673-676
- DOI
  10.1038/s10038-018-0421-3
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy.2018
- Author(s)
  Tsuchida Naomi、Hamada Keisuke、Shiina Masaaki、Kato Mitsuhiro、Kobayashi Yu、Tohyama Jun、Kimura Kazue、Hoshino Kyoko、Ganesan Vigneswari、Teik Keng W.、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、Ogata Kazuhiro、Miyatake Satoko、Matsumoto Naomichi
- Journal Title
  
  Clin Genet.
  
  Volume: 94 Pages: 538-547
- DOI
  10.1111/cge.13454
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H05160, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia2018
- Author(s)
  Uchiyama Yuri、Yanagisawa Kunio、Kunishima Shinji、Shiina Masaaki、Ogawa Yoshiyuki、Nakashima Mitsuko、Hirato Junko、Imagawa Eri、Fujita Atsushi、Hamanaka Kohei、Miyatake Satoko、Mitsuhashi Satomi、Takata Atsushi、Miyake Noriko、Ogata Kazuhiro、Handa Hiroshi、Matsumoto Naomichi、Mizuguchi Takeshi
- Journal Title
  
  Clin Genet.
  
  Volume: 94 Pages: 548-553
- DOI
  10.1111/cge.13423
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07809, KAKENHI-PROJECT-18K19305, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H03293, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.2018
- Author(s)
  Hamanaka K.、Takahashi K.、Miyatake S.、Mitsuhashi S.、Hamanoue H.、Miyaji Y.、Fukai R.、Doi H.、Fujita A.、Imagawa E.、Iwama K.、Nakashima M.、Mizuguchi T.、Takata A.、Miyake N.、Takeuchi H.、Tanaka F.、Matsumoto N.
- Journal Title
  
  Clin Genet.
  
  Volume: 94 Pages: 274-275
- DOI
  10.1111/cge.13369
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-18K07503, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17K15630
[Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic.2018
- Author(s)
  Hamanaka Kohei、Miyatake Satoko、Zerem Ayelet、Lev Dorit、Blumkin Luba、Yokochi Kenji、Fujita Atsushi、Imagawa Eri、Iwama Kazuhiro、Nakashima Mitsuko、Mitsuhashi Satomi、Mizuguchi Takeshi、Takata Atsushi、Miyake Noriko、Saitsu Hirotomo、van der Knaap Marjo S.、Lerman-Sagie Tally、Matsumoto Naomichi
- Journal Title
  
  J Hum Genet
  
  Volume: 63 Pages: 1223-1229
- DOI
  10.1038/s10038-018-0516-x
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10080, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H06254, KAKENHI-PROJECT-17H06994, KAKENHI-PROJECT-17K15630
[Journal Article] 【自閉スペクトラム症(ASD)研究の動向】自閉スペクトラム症のゲノム研究　Exome, whole genome and beyond2017
- Author(s)
  高田篤、松本直通
- Journal Title
  
  分子精神医学
  
  Volume: 17 Pages: 17254-260
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] ゲノム研究発展の長期展望2017
- Author(s)
  高田篤, 吉川武男
- Journal Title
  
  精神科
  
  Volume: 30 Pages: 206-212
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] 【基礎研究で活躍する精神科医の魂はいずこに宿るか?】ゲノム研究でDisorderをDiseaseにする試み2017
- Author(s)
  高田篤
- Journal Title
  
  日本生物学的精神医学会誌
  
  Volume: 28 Pages: 140-143
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci2017
- Author(s)
  Atsushi Takata, Naomichi Matsumoto & Tadafumi Kato
- Journal Title
  
  Nature Communications
  
  Volume: NA
- DOI
  10.1038/ncomms14519
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] 【精神医学研究の発展可能性に関する長期展望:臨床への還元の視点とともに】ゲノム研究発展の長期展望2017
- Author(s)
  高田篤、吉川武男
- Journal Title
  
  精神科
  
  Volume: 30 Pages: 206-212
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] 統合失調症のエクソーム解析、その現在地2016
- Author(s)
  高田篤
- Journal Title
  
  分子精神医学
  
  Volume: 16 Pages: 167-173
- Data Source
  KAKENHI-PROJECT-16H06254
[Journal Article] 大きな効果をもって統合失調症と関連する遺伝子!?SETD1A2015
- Author(s)
  高田篤
- Journal Title
  
  分子精神医学
  
  Volume: 15 Pages: 227-229
- Data Source
  KAKENHI-PROJECT-15H06867
[Presentation] クラスタ/ハブ細胞を決定する遺伝子・鍵分子経路の特定およびヒト疾患との関連解析2021
- Author(s)
  高田篤
- Organizer
  クラスタ／ハブダイナミズムの決定剛軟因子キックオフシンポジウム
- Data Source
  KAKENHI-PLANNED-20H05777
[Presentation] 統計学と人工知能で世界標準の遺伝子診断ガイドラインをカイゼンする2021
- Author(s)
  高田篤
- Organizer
  AMEDゲノム医療基盤研究開発課・令和2年度成果報告会
- Data Source
  KAKENHI-PLANNED-20H05777
[Presentation] 自閉スペクトラム症のゲノム解析2020
- Author(s)
  高田篤
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PLANNED-20H05777
[Presentation] 自閉スペクトラム症（ASD）の遺伝子解析2019
- Author(s)
  高田篤
- Organizer
  生理学若手サマースクール
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] 精神科プレシジョンメディスンとPGx 精神疾患のプレシジョン・メディシン今できること、できないこと、なすべきこと2019
- Author(s)
  高田篤
- Organizer
  日本臨床精神神経薬理学会・日本神経精神薬理学会合同年会
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] ゲノムで変わる!? 精神疾患の診断と治療2019
- Author(s)
  高田篤
- Organizer
  日本生物学的精神医学会
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] Single-gene diseases among complex neuropsychiatric disorders and genetic complexity in supposed single-gene neurodevelopmental diseases2019
- Author(s)
  高田篤
- Organizer
  PSTC Japan Safety Biomarker Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] シン・ゲノム研究でdisorderをdiseaseにする試み2018
- Author(s)
  高田　篤
- Organizer
  第40回日本生物学的精神医学会
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] うつ病以外の精神神経疾患のPrecision Medicineからのヒント2018
- Author(s)
  高田　篤
- Organizer
  28回日本臨床精神神経薬理学会・48回日本神経精神薬理学会合同年会
- Invited
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] 精神神経疾患のrare variant解析とその解釈2018
- Author(s)
  高田　篤
- Organizer
  第40回日本生物学的精神医学会
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] Integrative genetic analysis of neuropsychiatric disorders2017
- Author(s)
  高田篤
- Organizer
  日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] 最先端の遺伝研究が解き明かすゲノム因性精神神経発達障害2017
- Author(s)
  高田篤
- Organizer
  第113回　日本精神神経学会学術総会
- Data Source
  KAKENHI-PROJECT-16H06254
[Presentation] ゲノム研究でdisorderをdiseaseにする試み2016
- Author(s)
  高田篤
- Organizer
  第38回日本生物学的精神医学会
- Place of Presentation
  福岡国際会議場（福岡県）
- Year and Date
  2016-09-09
- Data Source
  KAKENHI-PROJECT-16H06254

1. 村山正宜 (30578901)

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2. 竹田晃人 (70397040)

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Takata Atsushi 高田 篤

Research Projects

Research Products

Co-Researchers

双極性障害大規模シーケンス解析による稀な生殖細胞系列変異と体細胞変異の包括的研究Principal Investigator

Principal Investigator

Project Period (FY)

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Review Section

Research Institution

クラスタ/ハブダイナミズムの決定剛軟因子探索における総括研究

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

クラスタ/ハブ細胞を決定する遺伝子・鍵分子経路の特定およびヒト疾患との関連解析Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Comprehensive analysis of splicing regulation and splicing quantitative trait loci (sQTL) in brains of major psychosesPrincipal Investigator

Principal Investigator

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Research Field

Research Institution

Target resequencing of SETD1A, a strong candidate gene for schizophrenia with exome-wide significance, using the next generation sequencerPrincipal Investigator

Principal Investigator

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Research Institution

[Journal Article] Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy2021

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DOI

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[Journal Article] Refinement of the clinical variant interpretation framework by statistical evidence and machine learning2021

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[Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy2021

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[Journal Article] Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses2021

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[Journal Article] Whole exome sequencing of fetal structural anomalies detected by ultrasonography2021

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[Journal Article] De novo ATP1A3 variants cause polymicrogyria2021

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[Journal Article] The identification of two pathogenic variants in a family with mild and severe forms of developmental delay2020

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[Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia2020

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[Journal Article] 精神神経疾患のレアバリアント研究2020

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[Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP12019

Author(s)

Takata Atsushi 高田篤