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2016 Fiscal Year Annual Research Report

Genome assay using massive parallel sequencing

Planned Research

Project AreaIntegral understanding of the mechanism of transcription cycle through quantitative, high-resolution approaches
Project/Area Number 24118007
Research InstitutionYokohama City University

Principal Investigator

松本 直通  横浜市立大学, 医学研究科, 教授 (80325638)

Co-Investigator(Kenkyū-buntansha) 三宅 紀子  横浜市立大学, 医学部, 准教授 (40523494)
Project Period (FY) 2012-06-28 – 2017-03-31
Keywords転写 / BAF複合体 / 点変異 / 遺伝子重複
Outline of Annual Research Achievements

概要:次世代シーケンサー(NGS)を効率的に用いて転写サイクルの解明に資するゲノムアッセイを行うことを目的に,以下の項目で研究を進めた。
1. Ion Protonの稼働率向上に向けて:P2チップの登場を期待していたが、結果的には販売されず、これまでと同程度の出力に留まったため平成27年度と同様の使用量となった。
2. RNA-seq解析系の確立:RNA-seqについては、遺伝子変異の結果生じるトランスクリプト異常を鋭敏に検出するインフォーマティクス解析系を検討した。その結果STARを用いた解析で遺伝子異常によるトランスクリプト異常を高い検出感度で同定することが可能であった。
3. 転写サイクルに関わる遺伝子異常による疾患の解明:転写サイクル異常に関わる疾患として解明を進めているCoffin-Siris症候群はBAF複合体の5つのサブユニットをコードする遺伝子とBAF複合体の下流に位置する転写因子SOX11の点変異で惹起されることを解明することができた。この6つの遺伝子の中でARID1Bのみ欠失やtruncation変異を認めた。それ以外の5つの遺伝子ではいずれもミスセンス変異を呈した。平成28年度は、これらの遺伝子異常のコピー数解析を進め、現時点でCoffin-Siris症例の2例で遺伝子SMARCA2を含むゲノム領域の重複を認め、論文として発表した(Am J Med Genet Part A, 2017)。このことはBAF複合体の各サブユニットがそれぞれのタンパク量を最適化して複合体として調和を保って微細な転写調節を行っている可能性を示唆していると考えている。

Research Progress Status

28年度が最終年度であるため、記入しない。

Strategy for Future Research Activity

28年度が最終年度であるため、記入しない。

  • Research Products

    (43 results)

All 2016

All Journal Article (39 results) (of which Int'l Joint Research: 39 results,  Peer Reviewed: 39 results,  Acknowledgement Compliant: 19 results) Presentation (4 results) (of which Int'l Joint Research: 4 results,  Invited: 4 results)

  • [Journal Article] Ultratra-sensitve droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.2016

    • Author(s)
      Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N*
    • Journal Title

      Sci Rep

      Volume: 6 Pages: 22985

    • DOI

      10.1038/srep22985

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] FDG-PET study of patients with Leigh syndrome.2016

    • Author(s)
      Haginoya K*, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N,
    • Journal Title

      J Neurol Sci

      Volume: 362 Pages: 309-313

    • DOI

      10.1016/j.jns.2016.02.008.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Pathogenic variants in PIGG cause intellectual disability with seizures and hypotonia.2016

    • Author(s)
      Makrythanasis P#, Kato M# (# denotes equal contribution), Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, *Antonarakis SE, *Murakami Y (*co-correspondence).
    • Journal Title

      Am J Hum Genet

      Volume: 98 Pages: 615-626

    • DOI

      10.1016/j.ajhg.2016.02.007

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.2016

    • Author(s)
      Yamashita S, *Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H.
    • Journal Title

      Epilepsia

      Volume: 57(4) Pages: e81-86

    • DOI

      10.1111/epi.13338.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.2016

    • Author(s)
      Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima N, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N*, Matsumoto N* (*: co-correspondence).
    • Journal Title

      Hum Genet

      Volume: 135(1) Pages: 61-68

    • DOI

      10.1007/s00439-015-1611-0.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract.2016

    • Author(s)
      Behnam M#, Imagawa E# (#: equally contributed), Chaleshtori ARS, Ronasian F, Salehi M, *Miyake N, *Matsumoto N (*: co-correspondence).
    • Journal Title

      Hum Genet

      Volume: 61(2) Pages: 177-179

    • DOI

      10.1038/jhg.2015.127.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Novel COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection.2016

    • Author(s)
      Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H.
    • Journal Title

      Birth Defects Res A Clin Mol Teratol

      Volume: 106(4) Pages: 304-307

    • DOI

      10.1002/bdra.23488.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.2016

    • Author(s)
      Imagawa E#, Fattal-Valevski A# (# denotes equal contribution), Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H Miyake N*, Matsumoto N* (* co-correspondence).
    • Journal Title

      Journal of Neurol Neurosurg Psychiatry

      Volume: 87 Pages: 212-216

    • DOI

      10.1136/jnnp-2014-310084

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes.2016

    • Author(s)
      Kodera H#, Ohba C# (# denotes equal contribution), Kato M, Maeda T, Araki K, Tajima D, Matsuo M, Hino-Fukuyo N, Kohashi K, Ishiyama A, Takeshita S, Motoi H, Kitamura T, Kikuchi A, Tsurusaki Y, Nakashima M, Miyake N, Sasaki M, Kure S, Haginoya K, *Saitsu H, *Matsumoto N (: co-correspondence).
    • Journal Title

      Epilepsia

      Volume: 57(4) Pages: 566-573

    • DOI

      10.1111/epi.13344. Epub 2016 Feb 25.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Panventriculomegaly with a wide foramen of Magendie and large cisterna magna.2016

    • Author(s)
      Kageyama H*, Miyajima M, Ogino I, Nakajima M, Shimoji K, Fukai R, Miyake N, Nishiyama K, Matsumoto N, Arai H.
    • Journal Title

      J Neurosurg

      Volume: 124(6) Pages: 1858-66

    • DOI

      10.3171/2015.6.JNS15162.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.2016

    • Author(s)
      Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Nakashima M, Miyatake S, Tanaka F, Miyake N, *Matsumoto N.
    • Journal Title

      J Hum Genet

      Volume: 61(5) Pages: 451-455

    • DOI

      10.1038/jhg.2015.163.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Dyschromatosis symmetrica hereditaria and Aicardi-Goutières syndrome 6 are phenotypic variants caused by ADAR1 mutations.2016

    • Author(s)
      *Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Moriwaki S, Matsumoto K, Matsumoto N, Tomita Y, Sugiura K, Akiyama M. Dyschromatosis symmetrica hereditaria and Aicardi-Goutières syndrome 6 are phenotypic variants caused by ADAR1 mutations.
    • Journal Title

      J Invest Dermatol

      Volume: 136(4) Pages: 875-8

    • DOI

      10.1016/j.jid.2015.12.034.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Vein of Galen Aneurysmal Malformation in Monozygotic Twin.2016

    • Author(s)
      Komiyama M*, Miyatake M Watanabe Y, Terada A, Ishiguro T, Ichiba H, Matsumoto M.
    • Journal Title

      World Neurosurg

      Volume: 91:672 Pages: e11-15

    • DOI

      10.1016/j.wneu.2016.04.031.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.2016

    • Author(s)
      Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N*.
    • Journal Title

      J Hum Genet

      Volume: 61(5) Pages: 381-387

    • DOI

      10.1038/jhg.2016.1.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.2016

    • Author(s)
      Inui T*, Kobayashi S, Ashikari Y, Sato R, Endo W, Uematsu M, Oba H, Saitsu H, Matsumoto N, Kure S, Haginoya K
    • Journal Title

      Brain Dev

      Volume: 38(5) Pages: 520-4

    • DOI

      10.1016/j.braindev.2015.11.003.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.2016

    • Author(s)
      #Saitsu H, #Watanabe M, #Akita T (# denotes equal contribution), Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A*, Matsumoto N* (*: co-corresponding).
    • Journal Title

      Sci Rep

      Volume: 6 Pages: 30072

    • DOI

      10.1038/srep30072.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.2016

    • Author(s)
      *Sakai Y#, Fukai R# (# denotes equal contribution), Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazaki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T.
    • Journal Title

      Ann Hum Genet

      Volume: 80(4) Pages: 235-240

    • DOI

      doi: 10.1111/ahg.12157.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.2016

    • Author(s)
      Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA*.
    • Journal Title

      Am J Med Genet A

      Volume: 170(8): Pages: 1967-1973

    • DOI

      10.1002/ajmg.a.37722.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.2016

    • Author(s)
      Narumi S*, et al., Matsumoto N, etal..
    • Journal Title

      Nat Genet

      Volume: 48(7) Pages: 792-797

    • DOI

      10.1038/ng.3569.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.2016

    • Author(s)
      Kanemasa H#, Fukai R# (# denotes equal contribution), *Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T.
    • Journal Title

      BMC Neurol.

      Volume: 16 Pages: 174

    • DOI

      10.1186/s12883-016-0680-6.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] The first genetically confirmed Japanese patient with mucolipidosis type IV.2016

    • Author(s)
      Saijo H, Hayashi M*, Ezoe T, Ohba C, Saitsu H, Kurata K, Matsumoto N.
    • Journal Title

      Clin Case Rep.

      Volume: 4(5) Pages: 509-12

    • DOI

      10.1002/ccr3.540.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy.2016

    • Author(s)
      *Miyake N, et al., Matsumoto N* (*: co-corresponding).
    • Journal Title

      Am J Hum Genet

      Volume: 99(4) Pages: 950-961

    • DOI

      10.1016/j.ajhg.2016.08.005.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.2016

    • Author(s)
      Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H*, Uemura K*, Takahashi R, Matsumoto N, Yamamoto T.
    • Journal Title

      J Hum Genet

      Volume: 61(10) Pages: 899-902

    • DOI

      10.1038/jhg.2016.64.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome.2016

    • Author(s)
      Suzuki T, et al.. S, Matsumoto M*.
    • Journal Title

      Clin Genet

      Volume: 90 Pages: 526-535

    • DOI

      10.1111/cge.12836.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17).2016

    • Author(s)
      *Hirabayashi S, Saitsu H, Matsumoto N.
    • Journal Title

      Brain Dev

      Volume: 38(1) Pages: 118-123

    • DOI

      10.1016/j.braindev.2015.05.004.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing.2016

    • Author(s)
      Kameta E, Sugimori K, Kaneko T, Ishii T, Miwa H, Sato T, Ishii Y, Sue S, Sasaki T, Yamashita Y, Shibata W, Matsumoto N, Maeda S*.
    • Journal Title

      Oncol Lett.

      Volume: 12(5) Pages: 3875-3881

    • DOI

      10.3892/ol.2016.5168

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.2016

    • Author(s)
      Assoum M#, Philippe C# (# denotes equal contribution), et al.. Matsumoto N, et al..
    • Journal Title

      Am J Hum Genet

      Volume: 99(6) Pages: 1368-1376

    • DOI

      10.1016/j.ajhg.2016.10.009

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] The molecular and phenotypic spectrum of IQSEC2-related epilepsy.2016

    • Author(s)
      *Zerem A, et al.. Matsumoto N, et al..
    • Journal Title

      Epilepsia

      Volume: 57(11) Pages: 1858-1869

    • DOI

      10.1111/epi.13560.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.2016

    • Author(s)
      ato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, *Takahashi T.
    • Journal Title

      Pediatrics

      Volume: 2016 Pages: 138(3)

    • DOI

      10.1542/peds.2016-0897.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation.2016

    • Author(s)
      Kobayashi Y, Magara S, Okazaki K, Komatsubara T, Saitsu H, Matsumoto N, Kato M, Tohyama J.
    • Journal Title

      Brain Dev.

      Volume: 38(10) Pages: :950-953

    • DOI

      10.1016/j.braindev.2016.06.004.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition.2016

    • Author(s)
      Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thöny B, Saitsu H, Matsumoto N, *Osaka H, Yamagata T.
    • Journal Title

      Brain Dev.

      Volume: 38(10) Pages: 959-963

    • DOI

      10.1016/j.braindev.2016.06.002.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.2016

    • Author(s)
      Miyake N*, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N* (co-correspondence).
    • Journal Title

      . Am J Med Genet A.

      Volume: 170(10) Pages: 2662-2670

    • DOI

      10.1002/ajmg.a.37778.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.2016

    • Author(s)
      Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, *Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 61(9) Pages: :835-838

    • DOI

      10.1038/jhg.2016.54.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism.2016

    • Author(s)
      *Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 61(9) Pages: 839-842

    • DOI

      10.1038/jhg.2016.56.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.2016

    • Author(s)
      Sato R*, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K.
    • Journal Title

      Brain Dev.

      Volume: 38(9) Pages: :852-6

    • DOI

      10.1016/j.braindev.2016.04.007.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.2016

    • Author(s)
      Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, *Ikegawa S.
    • Journal Title

      J Med Genet.

      Volume: 53(8) Pages: 568-74

    • DOI

      10.1136/jmedgenet-2016-103756.

    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] WDR45 mutations in three male patients with West syndrome.2016

    • Author(s)
      Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 61(7) Pages: 653-661

    • DOI

      10.1038/jhg.2016.27.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.2016

    • Author(s)
      Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 61(6) Pages: 527-31

    • DOI

      10.1038/jhg.2016.9.

    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.2016

    • Author(s)
      Mochida K, *Amano M, Miyake N, Matsumoto N, Hatamochi A, *Kosho T (*: co-correspondence).
    • Journal Title

      J Dermatol.

      Volume: 43(7) Pages: 832-833

    • DOI

      10.1111/1346-8138.13273.

    • Peer Reviewed / Int'l Joint Research
  • [Presentation] Rare variants in human diseases2016

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      The 2016 Annual Meeting of The Chinese Society of Medical Genetics (CSMG)
    • Place of Presentation
      Hanghzou, China
    • Year and Date
      2016-11-06 – 2016-11-06
    • Int'l Joint Research / Invited
  • [Presentation] Mendelian Exome in Japan2016

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      LMCE2016, Symposium 13
    • Place of Presentation
      The-K Hotel, Seoul, Korea
    • Year and Date
      2016-10-28 – 2016-10-28
    • Int'l Joint Research / Invited
  • [Presentation] Rare variants in human diseases2016

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      International Symposium on Genomic Medicine 2016
    • Place of Presentation
      Samsung Medical Center, Seoul, Korea
    • Year and Date
      2016-06-24 – 2016-06-24
    • Int'l Joint Research / Invited
  • [Presentation] Somatic mutation in Sturge Weber syndrome2016

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      The 11th Asian & Oceanian Epilepsy Congress (AOEC)
    • Place of Presentation
      Hong Kong Convention & Exhibition Centre, Hong Kong
    • Year and Date
      2016-05-16 – 2016-05-16
    • Int'l Joint Research / Invited

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Published: 2018-01-16  

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