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

• Project/Area Number: 16H06254
• Research Category: Grant-in-Aid for Young Scientists (A)
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: Yokohama City University
• Principal Investigator: Takata Atsushi 横浜市立大学, 医学部, 講師 (90643693)
• Project Period (FY): 2016-04-01 – 2020-03-31
• Project Status: Completed (Fiscal Year 2019)
• Budget Amount: ¥19,760,000 (Direct Cost: ¥15,200,000、Indirect Cost: ¥4,560,000); Fiscal Year 2019: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000); Fiscal Year 2018: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000); Fiscal Year 2017: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000); Fiscal Year 2016: ¥8,060,000 (Direct Cost: ¥6,200,000、Indirect Cost: ¥1,860,000)
• Keywords: 選択的スプライシング / ゲノム / 統合失調症 / 遺伝学 / 精神医学 / 神経科学 / GWAS / QTL / 発現制御 / スプライシング / 調節エレメント

Outline of Final Research Achievements

In this program, we conducted a comprehensive analysis of association between alternative splicing and neuropsychiatric disorders. Specifically, we reported the results of genome-wide identification of splicing quantitative trait loci (sQTLs) in the human brain and analysis of their association with neuropsychiatric disorders such as schizophrenia (Takata et al., Nature Communications 2017), and large-scale exome studies of autism spectrum disorder and developmental and epileptic encephalopathy analyzing rare variants including those potentially affect alternative splicing (Takata et al., Cell Reports 2018, Takata et al., Nature Communications 2019).

Academic Significance and Societal Importance of the Research Achievements

本研究で作製した、選択的スプライシングに影響を及ぼす変異の網羅的カタログは、ゲノムワイド関連解析等で検出される疾患関連SNPの生物学的意義の解釈と、疾患メカニズム解明に活用することができる。また、エクソーム解析等の網羅的ゲノム解析において、選択的スプライシング影響する変異を考慮することで、遺伝子診断につながる病的変異や、疾患リスクに寄与する変異を同定できる確率の向上が見込める。これらはいずれも、精神神経疾患のゲノム・脳病態理解と、診断・予防・将来の治療法開発に貢献しうるものである。

Research Products

• [Journal Article] Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities (2020)
  • Author(s): Miyake Noriko et al., Matsumoto Naomichi
  • Journal Title: The American Journal of Human Genetics Volume: 106 Issue: 1 Pages: 13-25
  • DOI: 10.1016/j.ajhg.2019.11.011
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy (2020)
  • Author(s): Hamanaka Kohei、Imagawa Eri、Koshimizu Eriko、Miyatake Satoko、Tohyama Jun、Yamagata Takanori、Miyauchi Akihiko、Ekhilevitch Nina、Nakamura Fumio、Kawashima Takeshi、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi et al.,
  • Journal Title: The American Journal of Human Genetics Volume: 106(4) Issue: 4 Pages: 549-558
  • DOI: 10.1016/j.ajhg.2020.02.011
  • Peer Reviewed / Int'l Joint Research
• [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
• [Journal Article] Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1 (2019)
  • 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: Journal of Human Genetics Volume: 64 Issue: 9 Pages: 885-890
  • DOI: 10.1038/s10038-019-0626-0
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Beh?et’s disease (2019)
  • 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 Issue: 1 Pages: 137-137
  • DOI: 10.1186/s13075-019-1928-5
  • Peer Reviewed / Open Access
• [Journal Article] RALA mutation in a patient with autism spectrum disorder and Noonan syndrome-like phenotype (2019)
  • Author(s): Okamoto Nobuhiko、Takata Atsushi、Miyake Noriko、Matsumoto Naomichi
  • Journal Title: Congenital Anomalies Volume: NA Issue: 6 Pages: 195-196
  • DOI: 10.1111/cga.12327
  • NAID: 50014240945
  • Peer Reviewed
• [Journal Article] Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report (2019)
  • 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 Issue: 1 Pages: 253-253
  • DOI: 10.1186/s12883-019-1489-x
  • Peer Reviewed / Open Access
• [Journal Article] Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant (2019)
  • 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: Journal of Human Genetics Volume: 64 Issue: 9 Pages: 955-960
  • DOI: 10.1038/s10038-019-0631-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 (2019)
  • 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 Issue: 4 Pages: 347-350
  • DOI: 10.1038/s10038-018-0556-2
  • Peer Reviewed / Int'l Joint Research
• [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: Nature Communications Volume: 10 Issue: 1 Pages: 2506-2506
  • DOI: 10.1038/s41467-019-10482-9
  • Peer Reviewed / Open Access
• [Journal Article] MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration (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: Human Molecular Genetics Volume: 印刷中 Issue: 14 Pages: 2319-2329
  • DOI: 10.1093/hmg/ddz066
  • Peer Reviewed
• [Journal Article] A novel de novo frameshift variant in SETD1B causes epilepsy (2019)
  • Author(s): Den Kouhei、Kato Mitsuhiro、Yamaguchi Tokito、Miyatake Satoko、Takata Atsushi、Mizuguchi Takeshi、Miyake Noriko、Mitsuhashi Satomi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 8 Pages: 821-827
  • DOI: 10.1038/s10038-019-0617-1
  • Peer Reviewed
• [Journal Article] Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing (2019)
  • Author(s): Iwama Kazuhiro、Mizuguchi Takeshi、Miyatake Satoko、Matsumoto Naomichi、et al
  • Journal Title: Journal of Medical Genetics Volume: - Issue: 6 Pages: 396-407
  • DOI: 10.1136/jmedgenet-2018-105775
  • Peer Reviewed / Open Access
• [Journal Article] Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma (2019)
  • 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 Issue: 3
  • DOI: 10.1212/wnl.0000000000007774
  • Peer Reviewed
• [Journal Article] Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome (2019)
  • Author(s): Aoi Hiromi et al., Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 10 Pages: 967-978
  • DOI: 10.1038/s10038-019-0643-z
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Comparison of mitochondrial DNA variants detection using short- and long-read sequencing (2019)
  • Author(s): Alkanaq Ahmed N.、Hamanaka Kohei、Sekiguchi Futoshi、Taguri Masataka、Takata Atsushi、Miyake Noriko、Miyatake Satoko、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 11 Pages: 1107-1116
  • DOI: 10.1038/s10038-019-0654-9
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Genetic abnormalities in a large cohort of Coffin?Siris syndrome patients (2019)
  • Author(s): Sekiguchi Futoshi et al., Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 64 Issue: 12 Pages: 1173-1186
  • DOI: 10.1038/s10038-019-0667-4
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Recapitulation and Reversal of Schizophrenia-Related Phenotypes in Setd1a-Deficient Mice (2019)
  • Author(s): Mukai Jun、Cannav? Enrico、Crabtree Gregg W.、Sun Ziyi、Diamantopoulou Anastasia、Thakur Pratibha、Chang Chia-Yuan、Cai Yifei、Lomvardas Stavros、Takata Atsushi、Xu Bin、Gogos Joseph A.
  • Journal Title: Neuron Volume: 104 Issue: 3 Pages: 471-487
  • DOI: 10.1016/j.neuron.2019.09.014
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy (2018)
  • Author(s): Hamanaka Kohei、Miyatake Satoko、Koshimizu Eriko、Matsumoto Naomichi、et al.
  • Journal Title: Genetics in Medicine Volume: - Issue: 7 Pages: 1629-1638
  • DOI: 10.1038/s41436-018-0360-6
  • Peer Reviewed
• [Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies (2018)
  • 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: European Journal of Human Genetics Volume: 27 Issue: 3 Pages: 378-383
  • DOI: 10.1038/s41431-018-0289-x
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SOFT syndrome in a patient from Chile (2018)
  • 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: American Journal of Medical Genetics Part A Volume: 179 Issue: 3 Pages: 338-340
  • DOI: 10.1002/ajmg.a.61015
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Estimating contribution of rare non-coding variants to neuropsychiatric disorders (2018)
  • Author(s): Takata Atsushi
  • Journal Title: Psychiatry and Clinical Neurosciences Volume: 73 Issue: 1 Pages: 2-10
  • DOI: 10.1111/pcn.12774
  • Peer Reviewed
• [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: Clinical Genetics Volume: 94 Issue: 3-4 Pages: 362-367
  • DOI: 10.1111/cge.13385
  • Peer Reviewed
• [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: Journal of Human Genetics Volume: 63 Issue: 10 Pages: 1049-1054
  • DOI: 10.1038/s10038-018-0488-x
  • Peer Reviewed
• [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: Clinical Genetics Volume: 94 Issue: 5 Pages: 461-466
  • DOI: 10.1111/cge.13415
  • Peer Reviewed
• [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: Journal of Human Genetics Volume: 63 Issue: 5 Pages: 673-676
  • DOI: 10.1038/s10038-018-0421-3
  • Peer Reviewed / Int'l Joint Research
• [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: Annals of Neurology Volume: 84 Issue: 1 Pages: 159-161
  • DOI: 10.1002/ana.25256
  • Peer Reviewed
• [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: Journal of Human Genetics Volume: 63 Issue: 12 Pages: 1223-1229
  • DOI: 10.1038/s10038-018-0516-x
  • Peer Reviewed / Int'l Joint Research
• [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: Annals of Neurology Volume: 84 Issue: 6 Pages: 843-853
  • DOI: 10.1002/ana.25367
  • Peer Reviewed / Int'l Joint Research
• [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: Clinical Genetics Volume: 94 Issue: 6 Pages: 538-547
  • DOI: 10.1111/cge.13454
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia (2018)
  • 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: Clinical Genetics Volume: 94 Issue: 6 Pages: 548-553
  • DOI: 10.1111/cge.13423
  • Peer Reviewed / Int'l Joint Research
• [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: Clinical Genetics Volume: 94 Issue: 2 Pages: 274-275
  • DOI: 10.1111/cge.13369
  • Peer Reviewed
• [Journal Article] Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder (2018)
  • Author(s): Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, ...Matsumoto N.
  • Journal Title: Cell Reports Volume: 22(3) Issue: 3 Pages: 734-747
  • DOI: 10.1016/j.celrep.2017.12.074
  • Peer Reviewed / Open Access
• [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
• [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
• [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 beyond (2017)
  • Author(s): 高田 篤、松本 直通
  • Journal Title: 分子精神医学 Volume: 17 Pages: 17254-260
• [Journal Article] Genome-wide identification of splicing QTLs in the human brain and their enrichment among schizophrenia-associated loci (2017)
  • Author(s): Atsushi Takata, Naomichi Matsumoto & Tadafumi Kato
  • Journal Title: Nature Communications Volume: NA Issue: 1
  • DOI: 10.1038/ncomms14519
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [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
• [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
• [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
• [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
• [Presentation] Single-gene diseases among complex neuropsychiatric disorders and genetic complexity in supposed single-gene neurodevelopmental diseases (2019)
  • Author(s): 高田 篤
  • Organizer: PSTC Japan Safety Biomarker Conference
  • Int'l Joint Research
• [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
• [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
• [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
• [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
• [Presentation] Integrative genetic analysis of neuropsychiatric disorders (2017)
  • Author(s): 高田 篤
  • Organizer: 日本人類遺伝学会
• [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
• [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
• [Remarks] 発達性およびてんかん性脳症(DEE)が 単純なメンデル型遺伝病の集合体ではないことを発見
  • URL: https://www.yokohama-cu.ac.jp/news/2019/201906matsumoto_NC_n.html
• [Remarks] De novo変異の統合的ビッグデータ解析により 自閉スペクトラム症の新たな生物学的知見を獲得
  • URL: https://www.yokohama-cu.ac.jp/amedrc/news/20180117Matsumoto.html
• [Remarks] ［プレスリリース］統合失調症の新たな遺伝的メカニズムを解明
  • URL: http://www.riken.jp/pr/press/2017/20170227_3/