Elucidating genetic cause and patho-mechanism of neuromusucular disorders using long-read sequencer

• Project/Area Number: 20K07907
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: Yokohama City University
• Principal Investigator: MIYATAKE Satoko 横浜市立大学, 附属病院, 准教授 (50637890)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Project Status: Completed (Fiscal Year 2022)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2022: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2021: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2020: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: ロングリードシーケンサー / 神経筋疾患 / 脊髄小脳変性症 / リピート伸長病 / CANVAS / RFC1 / ナノポアシーケンス / ターゲットロングリードシーケンス法 / ロングリード解析

Outline of Research at the Start

ヒト疾患ゲノム研究は、ショートリードシーケンサーの実用化と全エクソーム解析の普及で進歩を遂げたが、その疾患責任変異同定率は、全体として30%前後で頭打ちになっており、遺伝学的背景が疑われる患者の半数以上は原因未同定に終わる。本研究は、ショートリードシーケンサーの“次の世代”と位置付けられるロングリードシーケンサーを用いて、ショートリードシーケンサーの弱点を補完する全ゲノム解析系を構築し、全エクソーム解析で未解決の神経筋疾患症例の遺伝学的原因を同定することを目的とする。またその分子病態の解明や、新たな診断法の確立を目指し、治療法の開発に貢献する。

Outline of Final Research Achievements

In 16 patients with Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS), we identified either ACAGG expansions (ACAGG homozygotes), AAGGG expansions (AAGGG homozygotes), or ACAGG and AAGGG expansions (ACAGG/AAGGG compound heterozygotes), by long-read sequencing of repetitive region in RFC1 gene at nucleotide level of resolution and reported the repeat conformation heterogeneity in CANVAS [Miyatake et al., Brain. 2022]. We also developed a rapid and comprehensive diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available, low throughput diagnostic methods [Miyatake et al., npj Genom. Med. 2022].

Academic Significance and Societal Importance of the Research Achievements

①は、ロングリードシーケンサーを用いて、リピート配列の全長を解読できたことが既存のゲノム手法の限界を打ち破る新たな学術的意義である。また配列パターンの組み合わせと臨床症状の関連を示唆する知見が得られたことは、疾患の病態解明の手掛かりになると考えている。
②は、ナノポアシーケンサーのターゲットロングリードシーケンス法を利用したもので、従来のゲノム手法ではスクリーニングが困難であったリピート伸長病の簡便・迅速・正確な診断が可能となったことが有意義であり、臨床診療の診断精度向上に貢献できると考えている。

Research Products

• [Journal Article] Molecular diagnosis of 405 individuals with autism spectrum disorder (2023)
  • Author(s): Miyake Noriko、Tsurusaki Yoshinori、Fukai Ryoko、Kushima Itaru...Takata Atsushi、Mizuguchi Takeshi、Ozaki Norio、Matsumoto Naomichi
  • Journal Title: European Journal of Human Genetics Volume: 27-Mar Issue: 12 Pages: 1-8
  • DOI: 10.1038/s41431-023-01335-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes (2023)
  • Author(s): Itai T, Sugie A, Nitta Y, Maki R, Suzuki T, Shinkai Y, Watanabe Y, Nakano Y, Ichikawa K, Okamoto N, Utsuno Y, Koshimizu E, Fujita A, Hamanaka K, Uchiyama Y, Tsuchida N, Miyake N, Misawa K, Mizuguchi T, Miyatake S, Matsumoto N.
  • Journal Title: Sci Rep Volume: Mar 9;13(1) Issue: 1 Pages: 3954-3954
  • DOI: 10.1038/s41598-023-30968-3
  • Peer Reviewed / Open Access
• [Journal Article] An integrated genetic analysis of epileptogenic brain malformed lesions (2023)
  • Author(s): Atsushi Fujita et al.
  • Journal Title: Acta Neuropathologica Communications Volume: 11 Issue: 1 Pages: 33-33
  • DOI: 10.1186/s40478-023-01532-x
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic SNORD118 variants (2023)
  • Author(s): Kodama K, Aoyama H, Murakami Y, Takanashi JI, Koshimizu E, Miyatake S, Iwama K, Mizuguchi T, Matsumoto N, Omata T.
  • Journal Title: Radiol Case Rep Volume: Jan 12;18(3) Issue: 3 Pages: 1217-1220
  • DOI: 10.1016/j.radcr.2022.11.033
  • Peer Reviewed / Open Access
• [Journal Article] A novel NONO variant that causes developmental delay and cardiac phenotypes (2023)
  • Author(s): Itai T、Sugie A、Nitta Y、Maki R、Suzuki T、Shinkai Y、Watanabe Y、Nakano Y、Ichikawa K、Okamoto N、Utsuno Y、Koshimizu E、Fujita A、Hamanaka K、Uchiyama Y、Tsuchida N、Miyake N、Misawa K、Mizuguchi T、Miyatake S、Matsumoto N
  • Journal Title: Scientific Reports Volume: 13 Issue: 1 Pages: 975-975
  • DOI: 10.1038/s41598-023-27770-6
  • Peer Reviewed / Open Access
• [Journal Article] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals (2023)
  • Author(s): Saida K, Maroofian R, Sengoku T, Mitani T, Pagnamenta AT, Marafi D, Miyatake S, Lupski JR, Houlden H, Matsumoto N.
  • Journal Title: Genet Med Volume: Jan;25(1) Issue: 1 Pages: 90-102
  • DOI: 10.1016/j.gim.2022.09.010
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy (2022)
  • Author(s): Sakamoto M et al, Saitoh Sは30番目
  • Journal Title: Genetics in Medicine Volume: 24 Issue: 12 Pages: 2453-2463
  • DOI: 10.1016/j.gim.2022.08.007
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A case of generalized dystonia DYT28 with a novel <i>de novo</i> mutation in the <i>KMT2B</i> gene (2022)
  • Author(s): Hara K, Ouchi H, Hamanaka K, Miyatake S, Matsumoto N.
  • Journal Title: Rinsho Shinkeigaku Volume: 62 Issue: 11 Pages: 856-859
  • DOI: 10.5692/clinicalneurol.cn-001773
  • ISSN: 0009-918X, 1882-0654
  • Peer Reviewed
• [Journal Article] Distal 2q duplication in a patient with intellectual disability (2022)
  • Author(s): Suzuki T, Osaka H, Miyake N, Fujita A, Uchiyama Y, Seyama R, Koshimizu E, Miyatake S, Mizuguchi T, Takeda S, Matsumoto N.
  • Journal Title: Hum Genome Var Volume: Nov 10;9(1) Issue: 1 Pages: 39-39
  • DOI: 10.1038/s41439-022-00215-8
  • Peer Reviewed / Open Access
• [Journal Article] A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing (2022)
  • Author(s): Arai Yuto、Okanishi Tohru、Kanai Sotaro、Okazaki Tetsuya、Koshimizu Eriko、Miyatake Satoko、Maeoka Yukinori、Fujimoto Ayataka、Matsumoto Naomichi、Maegaki Yoshihiro
  • Journal Title: Brain and Development Volume: 44 Issue: 10 Pages: 732-736
  • DOI: 10.1016/j.braindev.2022.07.005
  • Peer Reviewed
• [Journal Article] Monogenic causes of pigmentary mosaicism (2022)
  • Author(s): Saida Ken、Chong Pin Fee、Yamaguchi Asuka、...Mitsuhiro Kato, et al.
  • Journal Title: Human Genetics Volume: 141 Issue: 11 Pages: 1771-1784
  • DOI: 10.1007/s00439-022-02437-w
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing (2022)
  • Author(s): Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Hiroshi Doi, et al.
  • Journal Title: npj Genomic Medicine Volume: 7 Issue: 1 Pages: 62-62
  • DOI: 10.1038/s41525-022-00331-y
  • Peer Reviewed / Open Access
• [Journal Article] Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome (2022)
  • Author(s): Seyama R, Uchiyama Y, Ceroni JRM, Kim VEH, Furquim I, Honjo RS, Castro MAA, Pires LVL, Aoi H, Iwama K, Hamanaka K, Fujita A, Tsuchida N, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Makino S, Itakura A, Bertola DR, Kim CA, Matsumoto N.
  • Journal Title: Genomics Volume: Sep;114(5) Issue: 5 Pages: 110468-110468
  • DOI: 10.1016/j.ygeno.2022.110468
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Patients with biallelic GGC repeat expansions in NOTCH2NLC exhibiting a typical neuronal intranuclear inclusion disease phenotype (2022)
  • Author(s): Shinichi Kameyama, Takeshi Mizuguchi, Hiroshi Doi, et al.
  • Journal Title: Genomics Volume: 114 Issue: 5 Pages: 110469-110469
  • DOI: 10.1016/j.ygeno.2022.110469
  • Peer Reviewed / Open Access
• [Journal Article] A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode (2022)
  • Author(s): Marafi Dana、Kozar Nina、Duan Ruizhi, ... Mitsuhiro Kato, et al.
  • Journal Title: The American Journal of Human Genetics Volume: 109 Issue: 9 Pages: 1713-1723
  • DOI: 10.1016/j.ajhg.2022.07.006
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo heterozygous variants in <i>KIF5B</i> cause kyphomelic dysplasia (2022)
  • Author(s): Itai Toshiyuki、Wang Zheng、Nishimura Gen、Ohashi Hirofumi、Guo Long、Wakano Yasuhiro、Sugiura Takahiro、Hayakawa Hiromi、Okada Mayumi、Saisu Takashi、Kitta Ayana、Doi Hiroshi、Kurosawa Kenji、Hotta Yoshihiro、Hosono Katsuhiro、Sato Miho、他
  • Journal Title: Clinical Genetics Volume: 102 Issue: 1 Pages: 3-11
  • DOI: 10.1111/cge.14133
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Actin-binding protein filamin-A drives tau aggregation and contributes to progressive supranuclear palsy pathology (2022)
  • Author(s): Tsujikawa K,Hamanaka K, Riku Y, Hattori Y, Hara N, Iguchi Y,Miyata T, Sobue G, Matsumoto N, Sahashi K, Katsuno M, et al.
  • Journal Title: Sci Adv Volume: - Issue: 21 Pages: 1-16
  • DOI: 10.1126/sciadv.abm5029
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome (2022)
  • Author(s): Miyatake S, Yoshida K, Koshimizu E, others, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N.
  • Journal Title: Brain Volume: 145 Issue: 3 Pages: 1139-1150
  • DOI: 10.1093/brain/awab363
  • Peer Reviewed
• [Journal Article] Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants. (2022)
  • Author(s): Hamanaka K, Miyake N, Mizuguchi T, Miyatake S, Uchiyama Y, Tsuchida N, Sekiguchi F, Mitsuhashi S, Tsurusaki Y, Nakashima M, Saitsu H, Yamada K, Sakamoto M, Fukuda H, Ohori S, Saida K, Itai T, Azuma Y, Koshimizu E, Fujita A, Erturk B, Hiraki Y, Ch'ng GS, Kato M, Okamoto N, Takata A, Matsumoto N.
  • Journal Title: Genome Med Volume: 14 Issue: 1 Pages: 40-40
  • DOI: 10.1186/s13073-022-01042-w
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication (2022)
  • Author(s): Masuda T, Osaka H, Tsuchida N, Miyatake S, Nishimura K, Takenouchi T, Takahashi T, Matsumoto N, Yamagata T.
  • Journal Title: Epilepsy Behav Rep Volume: Apr 25;19 Pages: 100547-100547
  • DOI: 10.1016/j.ebr.2022.100547
  • Peer Reviewed / Open Access
• [Journal Article] Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy (2022)
  • Author(s): Fatima A, Hoeber J, Schuster J, Koshimizu E, Maya-Gonzalez C, Miyatake S, Tanigawa J, Koike T, Kato M, Murakami Y, Matsumoto N, Baig SM, Klar J, Dahl N.
  • Journal Title: The American Journal of Human Genetics Volume: 109 Issue: 3 Pages: 542-546
  • DOI: 10.1016/j.ajhg.2022.02.007
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant (2022)
  • Author(s): Hamanaka Kohei、Miyoshi Keita、Sun Jia-Hui、Hamada Keisuke、Komatsubara Takao、Saida Ken、Tsuchida Naomi、Uchiyama Yuri、Fujita Atsushi、Mizuguchi Takeshi、Gerard Benedicte、Bayat Allan、Rinaldi Berardo、Kato Mitsuhiro、Tohyama Jun、Ogata Kazuhiro、Shi Yun Stone、Saito Kuniaki、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Human Genetics Volume: 141 Issue: 2 Pages: 283-293
  • DOI: 10.1007/s00439-021-02416-7
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Biallelic expansion in RFC1 as a rare cause of Parkinson’s disease (2022)
  • Author(s): Kytovuori Laura、Sipila Jussi、Doi Hiroshi、Hurme-Niiranen Anri、Siitonen Ari、Koshimizu Eriko、Miyatake Satoko、Matsumoto Naomichi、Tanaka Fumiaki、Majamaa Kari
  • Journal Title: npj Parkinson's Disease Volume: 8 Issue: 1 Pages: 6-6
  • DOI: 10.1038/s41531-021-00275-7
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Polymicrogyria in a child with KCNMA1-related channelopathy (2022)
  • Author(s): Graber D, Imagawa E, Miyake N, Matsumoto N, Miyatake S, Graber M, Isidor B.
  • Journal Title: Brain and Development Volume: 44 Issue: 2 Pages: 173-177
  • DOI: 10.1016/j.braindev.2021.09.009
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia (2021)
  • Author(s): Kitayama Kana、Ishiguro Tomoya、Komiyama Masaki、Morisaki Takayuki、Morisaki Hiroko、Minase Gaku、Hamanaka Kohei、Miyatake Satoko、Matsumoto Naomichi、Kato Masaru、Takahashi Toru、Yorifuji Tohru
  • Journal Title: BMC Medical Genomics Volume: 14 Issue: 1
  • DOI: 10.1186/s12920-021-01139-y
  • Peer Reviewed / Open Access
• [Journal Article] Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing (2021)
  • Author(s): Fukuda H, Yamaguchi D, Nyquist K, Yabuki Y, Miyatake S, Uchiyama Y, Hamanaka K, Saida K, Koshimizu E, Tsuchida N, Fujita A, Mitsuhashi S, Ohbo K, Satake Y, Sone J, Doi H, Morihara K, Okamoto T, Takahashi Y, Wenger AM, Shioda N, Tanaka F, Matsumoto N, Mizuguchi T
  • Journal Title: Clin Epigenetics Volume: 13 Issue: 1 Pages: 204-204
  • DOI: 10.1186/s13148-021-01192-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms (2021)
  • Author(s): Seyama Rie、Tsuchida Naomi、Okada Yasuyuki、Sakata Sonoko、Hamada Keisuke、Azuma Yoshiteru、Hamanaka Kohei、Fujita Atsushi、Koshimizu Eriko、Miyatake Satoko、Mizuguchi Takeshi、Makino Shintaro、Itakura Atsuo、Okada Satoshi、Okamoto Nobuhiko、Ogata Kazuhiro、Uchiyama Yuri、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 67 Issue: 3 Pages: 157-164
  • DOI: 10.1038/s10038-021-00986-y
  • Peer Reviewed
• [Journal Article] Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy (2021)
  • Author(s): Saida Ken et al.
  • Journal Title: Clinical Genetics Volume: 100 Issue: 6 Pages: 722-730
  • DOI: 10.1111/cge.14066
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features (2021)
  • Author(s): Kameyama Shinichi、Mizuguchi Takeshi、Fukuda Hiromi、Moey Lip Hen、Keng Wee Teik、Okamoto Nobuhiko、Tsuchida Naomi、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Miyatake Satoko、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 67 Issue: 3 Pages: 169-173
  • DOI: 10.1038/s10038-021-00978-y
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] <i>De novo ARF3</i> variants cause neurodevelopmental disorder with brain abnormality (2021)
  • Author(s): Sakamoto M、Sasaki K、Sugie A、Nitta Y、Kimura T、G?rsoy S、Cinleti T、Iai M、Sengoku T、Ogata K、Suzuki A、Okamoto N、Iwama K、Tsuchida N、Uchiyama Y、Koshimizu E、Fujita A、Hamanaka K、Miyatake S、Mizuguchi T、Taguri M、Ito S、Takahashi H、Miyake N、Matsumoto N
  • Journal Title: Human Molecular Genetics Volume: 31 Issue: 1 Pages: 69-81
  • DOI: 10.1093/hmg/ddab224
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Expanding the KIF4A‐associated phenotype (2021)
  • Author(s): Kalantari Silvia、Carlston Colleen、Alsaleh Norah、Kato Mitsuhiro、Matsumoto Naomichi、Miyatake Satoko、Yamamoto Tatsuya、Dobyns William B.、Filges Isabel
  • Journal Title: American Journal of Medical Genetics Part A Volume: 185 Issue: 12 Pages: 3728-3739
  • DOI: 10.1002/ajmg.a.62443
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Progressive cerebral atrophies in three children with COL4A1 mutations (2021)
  • Author(s): Nakamura Yuko、Okanishi Tohru、Yamada Hiroyuki、Okazaki Tetsuya、Hosoda Chika、Itai Toshiyuki、Miyatake Satoko、Saitsu Hirotomo、Matsumoto Naomichi、Maegaki Yoshihiro
  • Journal Title: Brain and Development Volume: 43 Issue: 10 Pages: 1033-1038
  • DOI: 10.1016/j.braindev.2021.06.008
  • Peer Reviewed
• [Journal Article] Novel CLTC variants cause new brain and kidney phenotypes (2021)
  • Author(s): Itai Toshiyuki、Miyatake Satoko、Tsuchida Naomi、Saida Ken、Narahara Sho、Tsuyusaki Yu、Castro Matheus Augusto Araujo、Kim Chong Ae、Okamoto Nobuhiko、Uchiyama Yuri、Koshimizu Eriko、Hamanaka Kohei、Fujita Atsushi、Mizuguchi Takeshi、Matsumoto Naomichi
  • Journal Title: Journal of Human Genetics Volume: 67 Issue: 1 Pages: 1-7
  • DOI: 10.1038/s10038-021-00957-3
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant (2021)
  • Author(s): Shibuya Moriei、Uneoka Saki、Onuma Akira、Kodama Kaori、Endo Wakaba、Okubo Yukimune、Inui Takehiko、Togashi Noriko、Nakashima Ichiro、Hino-Fukuyo Naomi、Ida Hiroyuki、Miyatake Satoko、Matsumoto Naomichi、Haginoya Kazuhiro
  • Journal Title: Brain and Development Volume: 43 Issue: 10 Pages: 1029-1032
  • DOI: 10.1016/j.braindev.2021.06.007
  • Peer Reviewed
• [Journal Article] Cerebrovascular diseases in two patients with entire NSD1 deletion (2021)
  • Author(s): Itai Toshiyuki、Miyatake Satoko、Hatano Taku、Hattori Nobutaka、Ohno Atsuko、Aoki Yusuke、Itomi Kazuya、Mori Harushi、Saitsu Hirotomo、Matsumoto Naomichi
  • Journal Title: Human Genome Variation Volume: 8 Issue: 1
  • DOI: 10.1038/s41439-021-00151-z
  • Peer Reviewed / Open Access
• [Journal Article] ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H(+)-ATPases is essential for brain development in humans and mice (2021)
  • Author(s): Aoto K, Kato M, Akita T, Nakashima M, Mutoh H, Akasaka N, Tohyama J, Nomura Y, Hoshino K, Ago Y, Tanaka R, Epstein O, Ben-Haim R, Heyman E, Miyazaki T, Belal H, Takabayashi S, Ohba C, Takata A, Mizuguchi T, Miyatake S, Miyake N, Fukuda A, Matsumoto N and Saitsu H
  • Journal Title: Nat Commun Volume: 12 Issue: 1 Pages: 2107-2107
  • DOI: 10.1038/s41467-021-22389-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Complete sequencing of expanded SAMD12 repeats by long-read sequencing with Cas9-mediated enrichment. (2021)
  • Author(s): Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tusburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N.
  • Journal Title: Brain Volume: 144 Issue: 4 Pages: 1103-1117
  • DOI: 10.1093/brain/awab021
  • Peer Reviewed / Open Access
• [Journal Article] De novo ATP1A3 variants cause polymicrogyria (2021)
  • Author(s): Miyatake Satoko、Kato Mitsuhiro、Kumamoto Takuma、Hirose Tomonori、他
  • Journal Title: Science Advances Volume: 7 Issue: 13 Pages: 2368-2368
  • DOI: 10.1126/sciadv.abd2368
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation (2021)
  • Author(s): Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N.
  • Journal Title: Front Cell Dev Biol. Volume: 9 Pages: 631428-631428
  • DOI: 10.3389/fcell.2021.631428
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction (2021)
  • Author(s): den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, HB, Itai T, Jackson A, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Kleefstra T, Reymond A, Fisher SE, Vissers LELM et al.
  • Journal Title: Am J Hum Genet. Volume: 108 Issue: 2 Pages: 346-356
  • DOI: 10.1016/j.ajhg.2021.01.007
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing (2021)
  • Author(s): Mizuguchi T, Okamoto N, Yanagihara K, Miyatake S, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Miyake N, Matsumoto N.
  • Journal Title: Genomics Volume: 113 Issue: 1 Pages: 1044-1053
  • DOI: 10.1016/j.ygeno.2020.10.038
  • Peer Reviewed
• [Journal Article] De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy (2021)
  • Author(s): Itai T, Hamanaka K, Sasaki K, Saitsu H, Miyatake S, Matsumoto N et al.
  • Journal Title: Hum Mutat Volume: 42 Issue: 1 Pages: 66-76
  • DOI: 10.1002/humu.24130
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A 2‐year‐old patient with a diffuse intrinsic pontine glioma and radiation‐induced moyamoya syndrome. (2020)
  • Author(s): Iizuka A, Shiba N, Shimosato Y, Yoshitomi M, Nakamura T, Miyatake S, Takano Y, Sasaki K, Takeuchi M, Nurata H, Yamamoto N, Ito S.
  • Journal Title: Pediatric Blood & Cancer Volume: 67 Issue: 10
  • DOI: 10.1002/pbc.28618
  • Peer Reviewed
• [Journal Article] Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia (2020)
  • 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: Hum Genome Var Volume: 7 Issue: 1 Pages: 43-43
  • DOI: 10.1038/s41439-020-00131-9
  • Peer Reviewed / Open Access
• [Journal Article] Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with NEXMIF Mutation: Case Report (2020)
  • Author(s): Ogasawara M, Nakagawa E, Takeshita E, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M.
  • Journal Title: Mol Syndromol Volume: 11 Issue: 4 Pages: 232-237
  • DOI: 10.1159/000510172
  • Peer Reviewed
• [Journal Article] Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses (2020)
  • Author(s): Uchiyama Yuri、Yamaguchi Daisuke、Iwama Kazuhiro, et al.
  • Journal Title: Human Mutation Volume: 42 Issue: 1 Pages: 50-65
  • DOI: 10.1002/humu.24129
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and genetic characteristics of patients with Doose syndrome (2020)
  • Author(s): Hinokuma N, Nakashima M, Asai H, Nakamura K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M et al.
  • Journal Title: Epilepsia Open Volume: 5 Issue: 3 Pages: 442-450
  • DOI: 10.1002/epi4.12417
  • Peer Reviewed / Open Access
• [Journal Article] Prenatal clinical manifestations in individuals with COL4A1/2 variants (2020)
  • Author(s): Itai T, Miyatake S, Taguri M, Nakashima M, Saitsu H, Matsumoto N et al.
  • Journal Title: J Med Genet Volume: 0 Issue: 8 Pages: 106896-106896
  • DOI: 10.1136/jmedgenet-2020-106896
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Effect of total callosotomy on KCNQ2-related intractable epilepsy (2020)
  • Author(s): Yamamoto A, Saito Y, Oyama Y, Watanabe Y, Ikeda A, Takayama R, Ikeda H, Takeshita S, Takumi I, Itai T, Miyatake S, Matsumoto N.
  • Journal Title: Brain Dev Volume: 42 Issue: 8 Pages: 612-616
  • DOI: 10.1016/j.braindev.2020.05.005
  • Peer Reviewed
• [Journal Article] SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation (2020)
  • Author(s): Zaman T, Helbig KL, Clatot J, Fujiwara Y, Miyatake S, Ben-Zeev B, Helbig I, Matsumoto N, Kearney JA, Fry AE, Goldberg EM et al.
  • Journal Title: Ann Neurol Volume: 88 Issue: 2 Pages: 348-362
  • DOI: 10.1002/ana.25809
  • Peer Reviewed / 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] Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report (2020)
  • Author(s): Yotsumoto Y, Harada A, Tsugawa J, Ikura Y, Utsunomiya H, Miyatake S, Matsumoto N, Kanemura Y, Hashimoto-Tamaoki T.
  • Journal Title: Mol Clin Oncol Volume: 12 Pages: 329-335
  • DOI: 10.3892/mco.2020.1988
  • Peer Reviewed / Open Access
• [Journal Article] Long-read Sequencing Identifies the Pathogenic Nucleotide Repeat Expansion in RFC1 in a Japanese Case of CANVAS (2020)
  • Author(s): Haruko Nakamura, Hiroshi Doi, Satomi Mitsuhashi, Satoko Miyatake, Kazutaka Katoh, Martin C Frith, Tetsuya Asano, Yosuke Kudo, Takuya Ikeda, Shun Kubota, Misako Kunii, Yu Kitazawa, Mikiko Tada, Mitsuo Okamoto, Hideto Joki, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanaka
  • Journal Title: Journal of Human Genetics Volume: 65 Issue: 5 Pages: 475-480
  • DOI: 10.1038/s10038-020-0733-y
  • Peer Reviewed / Open Access
• [Presentation] CANVASはrepeat conformation heterogeneityを有する (2022)
  • Author(s): 宮武聡子
  • Organizer: 日本人類遺伝学会第67回大会
• [Presentation] ホットトピックス06: 小児神経疾患の分子機構最前線～成人との懸け橋 (2022)
  • Author(s): 宮武聡子
  • Organizer: 第63回日本神経学会学術大会
  • Invited
• [Presentation] 教育コース08: 神経内科医が知っておきたい小児神経 (2022)
  • Author(s): 宮武聡子
  • Organizer: 第63回日本神経学会学術大会
  • Invited
• [Presentation] Cerebellar ataxia, neuropathy, vestibular areflexia syndrome has repeat conformation heterogeneity (2022)
  • Author(s): 宮武聡子
  • Organizer: 第63回日本神経学会学術大会
• [Presentation] 希少疾患・ミオパチーなどのゲノム研究(シンポジウム44:孤発性・家族性神経疾患のゲノム研究) (2021)
  • Author(s): 宮武聡子
  • Organizer: 第62回日本神経学会学術大会
  • Invited
• [Presentation] Polymicrogyria as a novel ATP1A3-related phenotype. (2021)
  • Author(s): Miyatake S, Kato M, Koshimizu E, Takeuchi H, Doi H, Nakashima M, Takata A, Hamanaka K, Mizuguchi T, Miyake N, Saitsu H, Tanaka F, and Matsumoto N
  • Organizer: 日本人類遺伝学会第66回大会
• [Presentation] The de novo hotspot variant in SCN3A cause polymicrogyria: report of patients and literature review (2020)
  • Author(s): Miyatake S， Kato M， Matsumoto M
  • Organizer: 第61回日本神経学会学術大会
• [Presentation] シンポジウム12:脳形成の新たな分子機構と小児神経疾患 イオンチャネルと脳形成異常 (2020)
  • Author(s): 宮武聡子
  • Organizer: 第62回日本小児神経学会学術集会
  • Invited
• [Presentation] ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome (2020)
  • Author(s): Miyatake S
  • Organizer: 日本人類遺伝学会第65回大会
  • Invited
• [Presentation] 教育セッション3「遺伝性疾患の分子生物学的理解」 (2020)
  • Author(s): 宮武聡子
  • Organizer: 日本人類遺伝学会第65回大会
  • Invited