Disease-related genome analyses by long-read sequencers

2018 Fiscal Year Annual Research Report

• Project/Area Number: 17H01539
• Research Institution: Yokohama City University
• Principal Investigator: 松本 直通 横浜市立大学, 医学研究科, 教授 (80325638)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 次世代シーケンス解析 / ロングリードシーケンス / 全ゲノム解析 / CNV / SNV

Outline of Annual Research Achievements

1. Sequelのflowcell v2得られた全ゲノムシーケンスデータの検討:1サンプルあたり4~5枚のフローセルを用いて6~10xの全ゲノムカバレージを得ることが明らかになった。基本このスキームで8サンプル程度のシーケンス解析を終了した。欠失CNVはそれぞれのカバレージで、おおよそ7000個程度,重複CNVはそれぞれ10000個程度検出された。現状のSMRT cell(1枚20万円程度)を5枚程度使用し,コストはおよそ1サンプル当たり100万円である。
2. CNV検出：10xレベルのSequel算出ゲノムデータからランダムにCNV検出を進めた。SMART-LINK 5にパッケージされたPBSVプログラムから、50 bp以上のCNVのみならず20 bp以上のCNVに加えて染色体転座や逆位の検出も可能となった。PBSVプログラムから産出されたVCFファイルをマージしてANNOVAR解析に進むフローを確立した。さらにRIBBONビューワーを用いて染色体転座や逆位の効果的かつ機能的可視化が可能となった。
3. Subreadを用いたSNV同定効率：SequelとイルミナHiseq10xで得られた全ゲノムデータよりミトコンドリアシーケンスを抽出しそれぞれの得られたシーケンスからSNVを抽出し比較検討した。

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

10xレベルのSequel算出ゲノムデータからランダムにCNV検出を進めた。SMART-LINK 5にパッケージされたPBSVプログラムから、50 bp以上のCNVのみならず20 bp以上のCNVに加えて染色体転座や逆位の検出も可能となった。PBSVプログラムから産出されたVCFファイルをマージしてANNOVAR解析に進むフローを確立した。さらにRIBBONビューワーを用いて染色体転座や逆位の効果的かつ機能的可視化が可能となった。SequelとイルミナHiseq10xで得られた全ゲノムデータよりミトコンドリアシーケンスを抽出しそれぞれの得られたシーケンスからSNVを抽出し比較検討した。PromethIONを導入し1 フローセル当たり50~120 GBのシーケンス産出が得られた。

Strategy for Future Research Activity

Sequel flowcell v3が登場しシーケンス産出量がv2の2倍程度となり今後はv2フローセル4枚分のデータならv3 2枚で達成可能となりコスト低減が可能となる。次年度はSequelのシーケンス産出向上を利用して疾患ゲノム解析を行いたい。PromethIONでは十分なスループットが確認できたのでシーケンス解析環境をセットアップする。

Research Products

• [Journal Article] Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases. (2019)
  • Author(s): Mizuguchi T*, Toyota T, Adachi H, Miyake N, Matsumoto N, Miyatake S* (*: co-correspondence).
  • Journal Title: J Hum Genet. Volume: 64(3) Pages: 191-197
  • DOI: 10.1038/s10038-018-0551-7.
  • Peer Reviewed
• [Journal Article] De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. (2019)
  • Author(s): Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N*.
  • Journal Title: Eur J Hum Genet. Volume: 27(3) Pages: 378-383
  • DOI: 10.1038/s41431-018-0289-x.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] .A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan. (2019)
  • Author(s): Hoshi M*, Koshimizu E, Miyatake S, Matsumoto N, Imamura A.
  • Journal Title: Brain Dev. Volume: 41(1) Pages: 101-105
  • DOI: 10.1016/j.braindev.2018.07.011.
  • Peer Reviewed
• [Journal Article] Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS). (2019)
  • Author(s): Yoshitomi S, Takahashi Y, Imai K, Koshimizu E, Miyatake S, Nakashima M, Saitsu H, Matsumoto N, Kato M, Fujita T, Ishii A, Hirose S, Inoue Y.
  • Journal Title: Seizure. Volume: 65 Pages: 118-123
  • DOI: 10.1016/j.seizure.2019.01.009.
  • Peer Reviewed
• [Journal Article] SOFT syndrome in a patient from Chile. (2019)
  • Author(s): Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N*, Matsumoto N* (*: co-correspondence).
  • Journal Title: Am J Med Genet A. Volume: 179(3) Pages: 338-340.
  • DOI: 10.1002/ajmg.a.61015.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads. (2019)
  • Author(s): Mitsuhashi S*, Frith MC* (*: co-correspondence), Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N.
  • Journal Title: Genome Biol. Volume: 20(1) Pages: 58
  • DOI: 10.1186/s13059-019-1667-6.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Mutations in PMPCB encoding the catalytic subunit of the mitochondrial presequence protease cause neurodegeneration in early childhood. (2018)
  • Author(s): Vögtle FN*,#, Brändl B#, Larson A#, Pendziwiat M#, Friederich MW# (# de notes equal contribution), White SM, Basinger A, Kücükköse C, Muhle H, Jähn JA, Keminer O, Helbig KL, Delto CF, Myketin L, Mossmann D, Burger N, Miyake N, Burnett A, van Baalen A, Lovell MA, Matsumoto N, et al..
  • Journal Title: Am J Hum Genet. Volume: 102(4) Pages: 557-573
  • DOI: 10.1016/j.ajhg.2018.02.014.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report. (2018)
  • Author(s): yun HS, Kim SH, Park E, Cho MH, Kang HG, Lee HS, Miyake N, Matsumoto N, Tsukaguchi H, Cheong HI*.
  • Journal Title: BMC Med Genet. Volume: 19(1) Pages: 131
  • DOI: 10.1186/s12881-018-0649-y.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo HDAC8 mutation causes Rett-related disorder with distinctive facial features and multiple congenital anomalies. (2018)
  • Author(s): Saikusa T*, Hara M* (* de notes equal contribution), Iwama K, Yuge K, Ohba C, Okada JI, Hisano T, Yamashita Y, Okamoto N, Saitsu H, Matsumoto N, Matsuishi T# (#: correspondence).
  • Journal Title: Brain Dev. Volume: 40(5) Pages: 406-409
  • DOI: 10.1016/j.braindev.2017.12.013.
  • Peer Reviewed
• [Journal Article] A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. (2018)
  • Author(s): Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N.
  • Journal Title: J Hum Genet. Volume: 63(4) Pages: 425-430
  • DOI: 10.1038/s10038-018-0410-6.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. (2018)
  • Author(s): Mizuguchi T*, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N#.
  • Journal Title: Hum Mol Genet. Volume: 27(8) Pages: 1421-1433
  • DOI: 10.1093/hmg/ddy052.
  • Peer Reviewed
• [Journal Article] A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. (2018)
  • Author(s): Sekiguchi F, Nasiri J, Sedghi M, Salehi M, Hosseinzadeh M, Okamoto N, Mizuguchi T, Nakashima M, Miyatake S, Takata A, Miyake N#, Matsumoto N# (#: co-correspondence).
  • Journal Title: J Hum Genet. Volume: 63(4) Pages: 487-491
  • DOI: 10.1038/s10038-017-0404-9.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. (2018)
  • Author(s): Doi H#, Koyano S, Miyatake S, Nakajima S, Nakazawa Y, Kunii M, Tomita-Katsumoto A, Oda K, Yamaguchi Y, Fukai R, Ikeda S, Kato R, Ogata K, Kubota S, Hayashi N, Takahashi K, Tada M, Tanaka K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogi T, Aihara M, Takeuchi H, Matsumoto N, Tanaka F# (#: co-correspondence).
  • Journal Title: J Hum Genet. Volume: 63(4) Pages: 417-423
  • DOI: 10.1038/s10038-017-0408-5.
  • Peer Reviewed
• [Journal Article] Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. (2018)
  • Author(s): Nakajima J, Oana S, Sakaguchi T, Nakashima M, Numabe H, Kawashima H, Matsumoto N, Miyake N#.
  • Journal Title: J Hum Genet. Volume: 63(4) Pages: 529-532
  • DOI: 10.1038/s10038-017-0399-2.
  • Peer Reviewed
• [Journal Article] De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy. (2018)
  • Author(s): Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H#, Matsumoto N# (#: co-correspondence).
  • Journal Title: Ann Neurol. Volume: 83(4) Pages: 794-806
  • DOI: 10.1002/ana.25208.
  • Peer Reviewed
• [Journal Article] The second point mutation in PREPL: a case report and literature review. (2018)
  • Author(s): Silva S, Miyake N, Tapia C, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 63(5) Pages: 677-681
  • DOI: 10.1038/s10038-018-0426-y.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. (2018)
  • Author(s): Fukuda H*, Imagawa E* (*: equal contribution), Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N*,# (#: correspondence), Fattal-Valevski A*.
  • Journal Title: J Hum Genet. Volume: 63(5) Pages: 673-676
  • DOI: 10.1038/s10038-018-0421-3.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. (2018)
  • Author(s): Fassio A*,#, Esposito A* (*: equal contribution), et al., Matsumoto N#, Benfenati F, Guerrini R# (#: co-correspondence).
  • Journal Title: Brain Volume: 141(6) Pages: 1703-1718
  • DOI: 10.1093/brain/awy092.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Characteristics of PPT1 and TPP1 enzymes in neuronal ceroid lipofuscinosis (NCL) 1 and 2 by dried blood spots (DBS) and leukocytes and their application to newborn screening. (2018)
  • Author(s): Itagaki R, Endo M, Yanagisawa H, Hossain MA, Akiyama K, Yaginuma K, Miyajima T, Wu C, Iwamoto T, Igarashi J, Kobayashi Y, Tohyama J, Iwama K, Matsumoto N, Shintaku H, Eto Y.
  • Journal Title: Mol Genet Metab. Volume: 124(1) Pages: 64-70
  • DOI: doi: 10.1016/j.ymgme.2018.03.007.
  • Peer Reviewed
• [Journal Article] Dysosteosclerosis is also caused by TNFRSF11A mutation. (2018)
  • Author(s): Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S#.
  • Journal Title: J Hum Genet. Volume: 63(6) Pages: 769-774
  • DOI: 10.1038/s10038-018-0447-6.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy. (2018)
  • Author(s): Suzuki-Muromoto S# (#: correspondence), Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K.
  • Journal Title: J Hum Genet. Volume: 63(6) Pages: 749-753
  • DOI: 10.1038/s10038-018-0432-0.
  • Peer Reviewed
• [Journal Article] A novel STXBP1 mutation causes typical Rett syndrome in a Japanese girl. (2018)
  • Author(s): Yuge K, Iwama K, Yonee C, Matsufuji M, Sano N, Saikusa T, Yae Y, Yamashita Y, Mizuguchi T, Matsumoto N, Matsuishi T#.
  • Journal Title: Brain Dev. Volume: 40(6) Pages: 493-497
  • DOI: 10.1016/j.braindev.2018.02.002.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene. (2018)
  • Author(s): Miyata Y# (#: corresponding), Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N.
  • Journal Title: Brain Dev. Volume: 40(7) Pages: 566-569
  • DOI: 10.1016/j.braindev.2018.03.012.
  • Peer Reviewed
• [Journal Article] A novel 8-bp duplication in ADAT3 causes mild intellectual disability. (2018)
  • Author(s): Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M# (#: corresponding).
  • Journal Title: Hum Genome Var. Volume: 21 Pages: 5-7
  • DOI: 10.1038/s41439-018-0007-9.
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy. (2018)
  • Author(s): Belal H#, Nakashima M# (#: co-first authors), Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N*, Saitsu H* (*: co-correspondence).
  • Journal Title: Hum Mutat. Volume: 39(8) Pages: 1070-1075
  • DOI: 10.1002/humu.23550.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A recurrent homozygous NHLRC1 variant in siblings with Lafora disease. (2018)
  • Author(s): Araya N*, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H.
  • Journal Title: Hum Genome Var. Volume: 12 Pages: 5-16
  • DOI: 10.1038/s41439-018-0015-9.
  • Peer Reviewed / Open Access
• [Journal Article] Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism. (2018)
  • Author(s): Yamamoto T*, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N.
  • Journal Title: Hum Genome Var. Volume: 19 Pages: 5-18
  • DOI: 10.1038/s41439-018-0020-z.
  • Peer Reviewed / Open Access
• [Journal Article] A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia. Br J Haematol. (2018)
  • Author(s): Uchiyama Y, Ogawa Y, Kunishima S, Shiina M, Nakashima M, Yanagisawa K, Yokohama A, Imagawa E, Miyatake S, Mizuguchi T, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N*.
  • Journal Title: Br J Haematol. Volume: 181(6): Pages: 843-847
  • DOI: 10.1111/bjh.14710.
  • Peer Reviewed
• [Journal Article] Coffin-Siris syndrome and cardiac anomaly with a novel SOX11 mutation. (2018)
  • Author(s): Okamoto N*, Ehara E, Tsurusaki Y, Miyake N, Matsumoto N.
  • Journal Title: Congenit Anom (Kyoto). Volume: 58(3) Pages: 105-107
  • DOI: 10.1111/cga.12242.
  • Peer Reviewed
• [Journal Article] A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies. (2018)
  • Author(s): Yahikozawa H#, Miyatake S# (# denotes equal contribution), Sakai T, Uehara T, Yamada M, Hanyu N, Futatsugi Y, Doi H, Koyano S, Tanaka F, Suzuki A, Matsumoto N, *Yoshida K.
  • Journal Title: Cerebellum. Volume: 17(5) Pages: 525-530
  • DOI: 10.1007/s12311-018-0941-6.
  • Peer Reviewed
• [Journal Article] A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation. (2018)
  • Author(s): Miyake N*, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, Ogata K, Matsumoto N.
  • Journal Title: Clin Genet. Volume: 93(4) Pages: 929-930
  • DOI: 10.1111/cge.13105.
  • Peer Reviewed / Int'l Joint Research
• [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 (*: equal contribution), et al., Matsumoto N# (#: corresponding).
  • Journal Title: Cell Rep Volume: 22(3) Pages: 734-747
  • DOI: 10.1016/j.celrep.2017.12.074.
  • Peer Reviewed
• [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(2) Pages: 274-275
  • DOI: 10.1111/cge.13369.
  • Peer Reviewed
• [Journal Article] Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel. (2018)
  • Author(s): Kunii M, Doi H*, Ishii Y, Ohba C, Tanaka K, Tada M, Fukai R, Hashiguchi S, Kishida H, Ueda N, Kudo Y, Kugimoto C, Nakano T, Udaka N, Miyatake S, Miyake N, Saitsu H, Ito Y, Takahashi K, Nakamura H, Tomita-Katsumoto A, Takeuchi H, Koyano S, Matsumoto N, Tanaka F* (*: co-correspondence).
  • Journal Title: Clin Genet. Volume: 94(2) Pages: 232-238
  • DOI: 10.1111/cge.13371.
  • Peer Reviewed
• [Journal Article] A novel mutation in SLC1A3 causes episodic ataxia. (2018)
  • Author(s): Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N*.
  • Journal Title: J Hum Genet. Volume: 63(2) Pages: 207-211
  • DOI: 10.1038/s10038-017-0365-z.
  • Peer Reviewed
• [Journal Article] A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. (2018)
  • Author(s): Sato T*, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.
  • Journal Title: Brain Dev. Volume: 40(9) Pages: 819-823
  • DOI: 10.1016/j.braindev.2018.05.012.
  • Peer Reviewed
• [Journal Article] wo Japanese cases of epileptic encephalopathy associated with an FGF12 mutation. (2018)
  • Author(s): Takeguchi R#, Haginoya K# (# denotes equal contribution), Uchiyama Y, Fujita A, Nagura M, Takeshita E*, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M.
  • Journal Title: Brain Dev. Volume: 40(8) Pages: 728-732.
  • DOI: 10.1016/j.braindev.2018.04.002.
  • Peer Reviewed
• [Journal Article] Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive. (2018)
  • Author(s): Daida A*, Hamano SI, Ikemoto S, Matsuura R, Nakashima M, Matsumoto N, Kato M.
  • Journal Title: Epileptic Disord. Volume: 20(4) Pages: 313-318
  • DOI: 10.1684/epd.2018.0981.
  • Peer Reviewed
• [Journal Article] Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. (2018)
  • Author(s): Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: Ann Neurol. Volume: 84(1) Pages: 159-161
  • DOI: 10.1002/ana.25256.
  • Peer Reviewed
• [Journal Article] Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. (2018)
  • Author(s): Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
  • Journal Title: Seizure. Volume: 60 Pages: 91-93
  • DOI: 10.1016/j.seizure.2018.06.012.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations. (2018)
  • Author(s): *Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.
  • Journal Title: Clin Genet. Volume: 94(3-4) Pages: 391-392
  • DOI: 10.1111/cge.13378.
  • 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: Clin Genet. Volume: 94(3-4) Pages: 362-367.
  • DOI: 10.1111/cge.13385.
  • Peer Reviewed
• [Journal Article] Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency. (2018)
  • Author(s): *Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H.
  • Journal Title: Int J Hematol. Volume: 108(4) Pages: 443-446.
  • DOI: 10.1007/s12185-018-2462-y.
  • Peer Reviewed
• [Journal Article] A novel SLC9A1 mutation causes cerebellar ataxia. (2018)
  • Author(s): Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N*.
  • Journal Title: J Hum Genet. Volume: 63(10) Pages: 1049-1054
  • DOI: 10.1038/s10038-018-0488-x.
  • Peer Reviewed
• [Journal Article] De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. (2018)
  • Author(s): Hamada N#, Ogaya S#, Nakashima M# (# denotes equal contribution), Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N*, Momiyama T, Nagata KI* (*: co-correspondence).
  • Journal Title: Brain Volume: 141(11) Pages: 3098-3114
  • DOI: 10.1093/brain/awy246.
  • Peer Reviewed
• [Journal Article] Novel SUZ12 mutations in Weaver-like syndrome. (2018)
  • Author(s): Imagawa E#, Albuquerque EVA# (# denotes equal contribution), Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL$, Matsumoto N$,* ($: equal contribution) (*: corresponding author).
  • Journal Title: Clin Genet. Volume: 94(5) Pages: 461-466
  • DOI: 10.1111/cge.13415.
  • Peer Reviewed
• [Journal Article] GRIN2D variants in three cases of developmental and epileptic encephalopathy. (2018)
  • Author(s): Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N*.
  • Journal Title: Clin Genet. Volume: 94(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 Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N*, Mizuguchi T* (*: co-correspondence).
  • Journal Title: Clin Genet. Volume: 94(6) Pages: :548-553
  • DOI: 10.1111/cge.13423.
  • Peer Reviewed
• [Journal Article] Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. (2018)
  • Author(s): Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N*.
  • Journal Title: J Hum Genet. Volume: 63(12) Pages: 1223-1229.
  • DOI: 10.1038/s10038-018-0516-x.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy. (2018)
  • Author(s): Shiraku H#, Nakashima M#, Takeshita S# (# denotes equal contribution), Khoo CS, Haniffa M, Ch'ng GS, Takada K, Nakajima K, Ohta M, Okanishi T, Kanai S, Fujimoto A, Saitsu H, Matsumoto N*, Kato M* (*: co-correspondence).
  • Journal Title: Epilepsia Open. Volume: 3(4) Pages: 495-502
  • DOI: 10.1002/epi4.12272.
  • Peer Reviewed / Open Access
• [Journal Article] Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. (2018)
  • Author(s): Fujita A#, Tsukaguchi H*,#, Koshimizu E# (# denotes equal contribution), Nakazato H, Itoh K, Kuraoka S, Komohara Y, Shiina M, Nakamura S, Kitajima M, Tsurusaki Y, Miyatake S, Ogata K, Iijima K, Matsumoto N* (*: co-correspondence), Miyake N.
  • Journal Title: Ann Neurol. Volume: 84(6) Pages: 814-828
  • DOI: 10.1002/ana.25370.
  • Peer Reviewed
• [Journal Article] .Biallelic COLGALT1 variants are associated with cerebral small vessel disease. (2018)
  • Author(s): Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N*.
  • Journal Title: Ann Neurol. Volume: 84(6) Pages: 843-853
  • DOI: 10.1002/ana.25367.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Phenotypic and molecular insights into PQBP1-related intellectual disability. (2018)
  • Author(s): Abdel-Salam GMH*, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.
  • Journal Title: Am J Med Genet A. Volume: 176(11) Pages: 2446-2450
  • DOI: 10.1002/ajmg.a.40479.
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Screening of known disease genes in congenital scoliosis. (2018)
  • Author(s): Takeda K, et al., Matsumoto N, et al..
  • Journal Title: Mol Genet Genomic Med. Volume: 6(6) Pages: 966-974
  • DOI: 10.1002/mgg3.466.
  • Peer Reviewed / Int'l Joint Research
• [Presentation] 希少難病の原因解明の現状とその先へ (2019)
  • Author(s): 松本直通
  • Organizer: .IRUD講演会
  • Invited
• [Presentation] 次世代シーケンサー解析の現状と問題点 (2018)
  • Author(s): 松本直通
  • Organizer: 第121回日本小児科学会学術集会・総合シンポジウム3
  • Invited
• [Presentation] 次世代シーケンサーによる遺伝性疾患解析の現状と課題 (2018)
  • Author(s): 松本直通
  • Organizer: 第24回日本家族性腫瘍学会学術集会
  • Invited
• [Presentation] etection of copy number variations in epilepsy using exome data (2018)
  • Author(s): Naomichi Matsumoto and Naomi Tsuchida.
  • Organizer: ESHG 2018
  • Int'l Joint Research
• [Presentation] 神経疾患とNGS解析 (2018)
  • Author(s): 松本直通
  • Organizer: 第3回神経代謝病研究会・教育講演
  • Invited
• [Presentation] ヒト疾患ゲノム解析の到達点と問題点 (2018)
  • Author(s): 松本直通
  • Organizer: 第58回日本先天異常学会学術集会・特別講演
  • Invited
• [Presentation] 遺伝性疾患解明に取り組んだ四半世紀 (2018)
  • Author(s): 松本直通
  • Organizer: 第63回日本人類遺伝学会大会・会長講演
• [Presentation] 遺伝性疾患のNGS解析の現状,そしてその先へ (2018)
  • Author(s): 松本直通
  • Organizer: 第13回九州遺伝子診断研究会・特別講演
  • Invited
• [Presentation] 高感度な体細胞モザイク変異同定への戦略 (2018)
  • Author(s): 松本直通
  • Organizer: アジレントゲノミクスフォーラム講師
  • Invited
• [Presentation] Genomics in epilepsy moving forward to the next frontier (2018)
  • Author(s): Naomichi Matsumoto,
  • Organizer: International Child Neurology Conference 2018
  • Int'l Joint Research / Invited
• [Presentation] Rare variants in human diseases (2018)
  • Author(s): Naomichi Matsumoto
  • Organizer: Lecture for Kyoto-McGill International Collaborative Program Students
  • Invited