• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

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 Category

Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionYokohama City University

Principal Investigator

MATSUMOTO Naomichi  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
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥106,080,000 (Direct Cost: ¥81,600,000、Indirect Cost: ¥24,480,000)
Fiscal Year 2016: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000)
Fiscal Year 2015: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000)
Fiscal Year 2014: ¥20,280,000 (Direct Cost: ¥15,600,000、Indirect Cost: ¥4,680,000)
Fiscal Year 2013: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000)
Fiscal Year 2012: ¥25,350,000 (Direct Cost: ¥19,500,000、Indirect Cost: ¥5,850,000)
Keywords転写サイクル / Chip seq / BAF複合体 / 点変異 / 遺伝子重複 / 転写 / ゲノム / 発現制御 / 次世代シーケンス / 転写調節 / コピー数異常 / 遺伝子変異
Outline of Final Research Achievements

To establish genome assay methods for elucidating transcriptional cycles by using NGS, various projects have been done. As genetic aberrations involving abnormal transcriptional cycles, we found mutations of five genes encoding subunits of BAF complex and its downstream SOX11 in patients with Coffin-Siris syndrome. Among these 6 genes, deletions or truncation mutations were found only in ARID1B and only missense mutations were found in the other five genes. SMARCA2 duplications were also found in two cases of Coffin-Siris syndrome, implying that fine quantity regulation of each BAF complex subunits is needed for sophisticated transcriptional regulation.

Report

(6 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Annual Research Report
  • 2014 Annual Research Report
  • 2013 Annual Research Report
  • 2012 Annual Research Report

Research Products

(188 results)

All 2021 2017 2016 2015 2014 2013 2012 Other

All Journal Article (123 results) (of which Int'l Joint Research: 50 results,  Peer Reviewed: 123 results,  Open Access: 44 results,  Acknowledgement Compliant: 75 results) Presentation (56 results) (of which Int'l Joint Research: 6 results,  Invited: 38 results) Remarks (1 results) Patent(Industrial Property Rights) (8 results) (of which Overseas: 1 results)

  • [Journal Article] Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)2021

    • Author(s)
      Klionsky DJ., Abdelmohsen K., Abe A., Abedin MJ.,Inomata M., et al.
    • Journal Title

      Autophagycineol.

      Volume: 12(1) Pages: 1-122

    • DOI

      10.1080/15548627.2015.1100356

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy2017

    • Author(s)
      Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
    • Journal Title

      Am J Hum Genet.

      Volume: 99 Pages: 950-961

    • DOI

      10.1016/j.ajhg.2016.08.005

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Ultra-sensitive 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: 22985-22985

    • DOI

      10.1038/srep22985

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] FDG-PET study of patients with Leigh syndrome2016

    • 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 M, Saitsu H, Matsumoto N, Kure S
    • Journal Title

      J Neurol Sci.

      Volume: 362 Pages: 309-313

    • DOI

      10.1016/j.jns.2016.02.008

    • Related Report
      2016 Annual Research Report 2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia2016

    • Author(s)
      Makrythanasis P, Kato M, 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.
    • Journal Title

      The American Journal of Human Genetics

      Volume: 98 Pages: 615-26

    • DOI

      10.1016/j.ajhg.2016.02.007

    • Related Report
      2016 Annual Research Report
    • 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

    • DOI

      10.1111/epi.13338

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [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 M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N.
    • Journal Title

      Hum Genet

      Volume: 135(1) Pages: 61-68

    • DOI

      10.1007/s00439-015-1611-0

    • Related Report
      2016 Annual Research Report 2015 Annual Research Report
    • Peer Reviewed / Open Access / 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, Chaleshtori AR, Ronasian F, Salehi M, Miyake N, Matsumoto N.
    • Journal Title

      Hum Genet

      Volume: 61 Pages: 177-179

    • DOI

      10.1038/jhg.2015.127

    • NAID

      40020742278

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [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 Pages: 304-307

    • DOI

      10.1002/bdra.23488

    • Related Report
      2016 Annual Research Report
    • 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, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
    • Journal Title

      Journal of Neurol Neurosurg Psychiatry

      Volume: 87(2) Pages: 212-216

    • DOI

      10.1136/jnnp-2014-310084

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes2016

    • Author(s)
      ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
    • Journal Title

      Epilepsia.

      Volume: 57 Pages: 566-573

    • DOI

      10.1111/epi.13344

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

    • Author(s)
      Hiroshi Kageyama, Masakazu Miyajima, Ikuko Ogino, Madoka Nakajima, Kazuaki Shimoji, Ryoko Fukai, Noriko Miyake, Kenichi Nishiyama, Naomichi Matsumoto, Hajime Arai
    • Journal Title

      J Neurosurg

      Volume: E-pub Pages: 1858-1866

    • DOI

      10.3171/2015.6.jns15162

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia2016

    • 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 Pages: 451-455

    • DOI

      10.1038/jhg.2015.163

    • NAID

      40020825300

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Dyschromatosis symmetrica hereditaria and Aicardi-Goutires 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, Matsumoto K, Moriwaki S, Matsumoto N, Tomita Y, Sugiura K, Akiyama M.
    • Journal Title

      J Invest Dermatol

      Volume: 136 Pages: 875-8

    • DOI

      10.1016/j.jid.2015.12.034

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Vein of Galen Aneurysmal malformation in monozygotic twin2016

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

      World Neurosurg.

      Volume: 91:672

    • DOI

      10.1016/j.wneu.2016.04.031

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [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 Pages: 381-387

    • DOI

      10.1038/jhg.2016.1

    • NAID

      40020825171

    • Related Report
      2016 Annual Research Report
    • 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 Pages: 520-4

    • DOI

      10.1016/j.braindev.2015.11.003

    • Related Report
      2016 Annual Research Report
    • 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, 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. and Matsumoto N.
    • Journal Title

      Sci Rep.

      Volume: 6 Pages: 30072-30072

    • DOI

      10.1038/srep30072

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo truncating mutation of TRIM8 causes early-onset epileptic encephalopathy2016

    • 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 Pages: 235-240

    • DOI

      10.1111/ahg.12157

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases2016

    • 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 Pages: 1967-1973

    • DOI

      10.1002/ajmg.a.37722

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 72016

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

      Nature Genetics

      Volume: 48 Pages: 792-7

    • DOI

      10.1038/ng.3569

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis2016

    • Author(s)
      Kanemasa H, Fukai R, 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 Neurology

      Volume: 16 Pages: 174-174

    • DOI

      10.1186/s12883-016-0680-6

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The first genetically confirmed Japanese patient with mucolipidosis type IV2016

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

      Clin Case Rep.

      Volume: 4 Pages: 509-12

    • DOI

      10.1002/ccr3.540

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations2016

    • 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 Pages: 899-902

    • DOI

      10.1038/jhg.2016.64

    • NAID

      120005868491

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome2016

    • Author(s)
      Suzuki T, et al., Matsumoto N
    • Journal Title

      Clinical genetics

      Volume: 90 Pages: 526-535

    • DOI

      10.1111/cge.12836

    • Related Report
      2016 Annual Research Report
    • 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 Pages: 118-123

    • DOI

      10.1016/j.braindev.2015.05.004

    • Related Report
      2016 Annual Research Report
    • 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 sequencing2016

    • 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 Pages: 3875-3881

    • DOI

      10.3892/ol.2016.5168

    • Related Report
      2016 Annual Research Report
    • 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 atrophy2016

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

      Am J Hum Genet.

      Volume: 99 Pages: 1368-1376

    • DOI

      10.1016/j.ajhg.2016.10.009

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] The molecular and phenotypic spectrum of IQSEC2-related epilepsy2016

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

      Epilepsia

      Volume: 57 Pages: 1858-1869

    • DOI

      10.1111/epi.13560

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Association between invisible basal ganglia and ZNF335 mutations: a case report2016

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

      Pediatrics

      Volume: 138

    • DOI

      10.1542/peds.2016-0897

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation2016

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

      Brain Dev.

      Volume: 38 Pages: 950-953

    • DOI

      10.1016/j.braindev.2016.06.004

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition2016

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

      Brain Dev.

      Volume: 38 Pages: 959-963

    • DOI

      10.1016/j.braindev.2016.06.002

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome2016

    • 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
    • Journal Title

      Am J Med Genet A.

      Volume: 170 Pages: 2662-2670

    • DOI

      10.1002/ajmg.a.37778

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux2016

    • 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 Pages: 835-838

    • DOI

      10.1038/jhg.2016.54

    • NAID

      40020938225

    • Related Report
      2016 Annual Research Report
    • 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

      Journal of Human Genetics

      Volume: 61(9) Pages: 839-842

    • DOI

      10.1038/jhg.2016.56

    • NAID

      40020938230

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations2016

    • 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 Pages: 852-826

    • DOI

      10.1016/j.braindev.2016.04.007

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity2016

    • 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 Pages: 568-574

    • DOI

      10.1136/jmedgenet-2016-103756

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.2016

    • Author(s)
      Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 38 Pages: 653-661

    • DOI

      10.1038/jhg.2016.27

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations2016

    • 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 Pages: 527-31

    • DOI

      10.1038/jhg.2016.9

    • NAID

      40020857031

    • Related Report
      2016 Annual Research Report
    • 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.
    • Journal Title

      J Dermatol

      Volume: Epub ahead of print Pages: 0-0

    • DOI

      10.1111/1346-8138.13273

    • Related Report
      2016 Annual Research Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy.2016

    • Author(s)
      Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
    • Journal Title

      Epilepsia.

      Volume: Epub 2015 Nov 27.

    • DOI

      10.1111/epi.13257

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).2015

    • Author(s)
      Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
    • Journal Title

      Am J Med Genet Part A

      Volume: 167 Pages: 592-601

    • DOI

      10.1002/ajmg.a.36942

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] De novo SHANK3 mutation causes a female patient with Rett syndrome like phenotype.2015

    • Author(s)
      Hara M, Ohba C, Yamashita Y, Saitsu H, Matsumoto N, Matsuishi T.
    • Journal Title

      Am J Med Genet A

      Volume: 167(7) Pages: 1593-1596

    • DOI

      10.1002/ajmg.a.36775

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.2015

    • Author(s)
      Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
    • Journal Title

      Pediatr Int

      Volume: 57 Pages: 324-326

    • DOI

      10.1111/ped.12613

    • NAID

      120005666180

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation2015

    • Author(s)
      Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Matsumoto N, Sasaki M
    • Journal Title

      Am J Med Genet A.

      Volume: 167(5) Pages: 1100-1106

    • DOI

      10.1002/ajmg.a.36881

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.2015

    • Author(s)
      Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
    • Journal Title

      J Hum Genet 60(2)

      Volume: 60(2) Pages: 97-101

    • DOI

      10.1038/jhg.2014.103

    • NAID

      40020368024

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.2015

    • Author(s)
      Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S,
    • Journal Title

      Brain Dev

      Volume: 37(6) Pages: 638-42

    • DOI

      10.1016/j.braindev.2014.10.002

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach.2015

    • Author(s)
      Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
    • Journal Title

      Journal of Human Genetics

      Volume: 1 Pages: 124-124

    • DOI

      10.1038/jhg.2014.124

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] SPTAN1 encephalopathy: distinct phenotypes and genotypes2015

    • Author(s)
      Tohyama J, Nakashima M, Nabatame S, Gaik-Siew C, Miyata R, Rener-Primec Z, Kato M, Matsumoto N, Saitsu H
    • Journal Title

      J Hum Genet.

      Volume: 60(4) Pages: 167-173

    • DOI

      10.1038/jhg.2015.5

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders2015

    • Author(s)
      Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
    • Journal Title

      Epilepsia.

      Volume: 印刷中 Pages: 841-8

    • DOI

      10.1111/epi.12987

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.2015

    • Author(s)
      Sasaki M, Ohba C, Iai M, Hirabayashi S, Osaka H, Hiraide T, Saitsu H, Matsumoto N
    • Journal Title

      J Neurol.

      Volume: 262(5) Pages: 1278-1284

    • DOI

      10.1007/s00415-015-7705-8

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation2015

    • Author(s)
      Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
    • Journal Title

      Journal of Human Genetics

      Volume: 60 Pages: 187-191

    • DOI

      10.1038/jhg.2015.7

    • NAID

      40020433141

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.2015

    • Author(s)
      Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N.
    • Journal Title

      J Hum Genet

      Volume: 60(5) Pages: 277-279

    • DOI

      10.1038/jhg.2015.13

    • NAID

      40020462593

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] An Aberrant Splice Acceptor Site Due to a Novel Intronic Nucleotide Substitution in MSX1 Gene Is the Cause of Congenital Tooth Agenesis in a Japanese Family2015

    • Author(s)
      Tatematsu T, Kimura M, Nakashima M, Machida J, Yamaguchi S, Shibata A, Goto H, Nakayama A, Higashi Y, Miyachi H, Shimozato K, Matsumoto N, Tokita Y
    • Journal Title

      Plos One

      Volume: 10(6)

    • DOI

      10.1371/journal.pone.0128227

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate-myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel2015

    • Author(s)
      Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto Y, Matsumoto N, Nonaka I, Nishino I.
    • Journal Title

      Hum Mol Genet 24(3)

      Volume: 24(3) Pages: 637-48

    • DOI

      10.1093/hmg/ddu477

    • Related Report
      2015 Annual Research Report 2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] A novel mutation in ELOVL4 leading to spinocerebellar ataxia (SCA) with the hot cross bun sign but lacking erythrokeratodermia: a broadened spectrum of SCA34.2015

    • Author(s)
      Ozaki K, Doi H, Mitsui J, Sato N, Iikuni Y, Majima T, Yamane K, Irioka T, Ishiura H, Doi K, Morishita S, Higashi M, Sekiguchi T, Koyama K, Ueda N, Miura Y, Miyatake S, Matsumoto N, Yokota T, Tanaka F, Tsuji S, Mizusawa H, Ishikawa K.
    • Journal Title

      JAMA Neurol.

      Volume: 72 Pages: 797-805

    • DOI

      10.1001/jamaneurol.2015.0610

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals.2015

    • Author(s)
      Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Tokunaga K, Sasaki T.
    • Journal Title

      Human Genome Variation 2

      Volume: 2 Pages: 15024-15024

    • DOI

      10.1038/hgv.2015.24

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.2015

    • Author(s)
      Cho SY, Asharani PV, Kim OH, Iida A, Miyake N, Matsumoto N, Nishimura G, Ki CS, Hong G, Kim SJ, Sohn YB, Park SW, Lee J, Kwun Y, Carney TJ, Huh R, Ikegawa S, Jin DK.
    • Journal Title

      Hum Mut

      Volume: 36(2) Pages: 191-195

    • DOI

      10.1002/humu.22731

    • Related Report
      2015 Annual Research Report 2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).2015

    • Author(s)
      Yahikozawa H, Yoshida K, Shunichi S, Hanyu N, Doi H, Miyatake S, Matsumoto N.
    • Journal Title

      Human Genome Variation 2

      Volume: 2 Pages: 15012-15012

    • DOI

      10.1038/hgv.2015.12

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb2015

    • Author(s)
      Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
    • Journal Title

      Ann Neurol.

      Volume: 78 Pages: 375-386

    • DOI

      10.1002/ana.24444

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.2015

    • Author(s)
      Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N.
    • Journal Title

      Human Genome Variation 2

      Volume: 2 Pages: 15034-15034

    • DOI

      10.1038/hgv.2015.34

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Electroclinical features of epileptic encephalopathy caused by SCN8A mutation2015

    • Author(s)
      Takahashi S, Yamamoto S, Okayama A, Araki A, Saitsu H, Matsumoto N, Azuma H
    • Journal Title

      Pediat Int

      Volume: 57(4) Pages: 758-762

    • DOI

      10.1111/ped.12622

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal mouse testis.2015

    • Author(s)
      Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H.
    • Journal Title

      BMC genomics

      Volume: 16 Pages: 624-624

    • DOI

      10.1186/s12864-015-1833-5

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features2015

    • Author(s)
      Afifi H, Fukai R, Miyake N, Gamal E, Din A, Eid M, Eid O, Thomas M, El-Badry T, Tosson A, Abdel-Salam G, Matsumoto N
    • Journal Title

      Am J Med Genet A.

      Volume: 167(10) Pages: 2418-2424

    • DOI

      10.1002/ajmg.a.37185

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome2015

    • Author(s)
      Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
    • Journal Title

      American Journal of Human Genetics

      Volume: 97(4) Pages: 555-566

    • DOI

      10.1016/j.ajhg.2015.08.013

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst2015

    • Author(s)
      Ogura Y, Miyake N, Kou I, Iida A, Nakajima M, Takeda K, Fujibayashi S, Shiina M, Okada E, Toyama Y, Iwanami A, Ishii K, Ogata K, Asahara H, Matsumoto N, Nakamura M, Matsumoto M, Ikegawa S
    • Journal Title

      PLoS One.

      Volume: 10(11)

    • DOI

      10.1371/journal.pone.0142126

    • NAID

      120005763410

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.2015

    • Author(s)
      Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
    • Journal Title

      Sci Rep.

      Volume: 5 Pages: 15199-15199

    • DOI

      10.1038/srep15199

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy2015

    • Author(s)
      Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusakia Y, Nakashima M, Kawashima H, Saitsu H, Matsumoto N, Miyake N.
    • Journal Title

      Clin Genet.

      Volume: 87(4) Pages: 356-361

    • DOI

      10.1111/cge.12394

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation2015

    • Author(s)
      Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Yuzawa YF, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K
    • Journal Title

      Sci. Rep.

      Volume: 4 Pages: 7132-7132

    • DOI

      10.1038/srep07132

    • NAID

      120007100602

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy2015

    • Author(s)
      Miyatake S, Koshimizu E, Tada H, Satoshi Moriya S, Takanashi J, Hirano Y, Hayashi M, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
    • Journal Title

      Clin Genet.

      Volume: 87(4) Pages: 395-397

    • DOI

      10.1111/cge.12455

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Clinical exome sequencing in neurology practice2014

    • Author(s)
      Miyatake S,Matsumoto N.
    • Journal Title

      Nature reviews Neurology

      Volume: 10(12) Pages: 676-678

    • DOI

      10.1038/nrneurol.2014.213

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome2014

    • Author(s)
      Tsurusaki Y, Ohashi H, Phadke S, Koshimizu E, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K-i, Kodera H, Miyatake S, Nakashima N, Saitsu H, Ogata K, Ikegawa S, Miyake N, and Matsumoto N.
    • Journal Title

      Neuromuscul Disord

      Volume: 5 Pages: 4011-4011

    • DOI

      10.1038/ncomms5011

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated2014

    • Author(s)
      Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
    • Journal Title

      Neurology.

      Volume: 82(24) Pages: 2230-2237

    • DOI

      10.1212/wnl.0000000000000535

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features2014

    • Author(s)
      Kato M, Saitsu H, Murakami Y , Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
    • Journal Title

      Neurology.

      Volume: 82(18) Pages: 1587-1596

    • DOI

      10.1212/wnl.0000000000000389

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes2014

    • Author(s)
      Nakamura K, Kato M, Tohyama J, Shiohama T, Hayasaka K, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.
    • Journal Title

      Clinical Genetics

      Volume: 85(4) Pages: 396-398

    • DOI

      10.1111/cge.12188

    • Related Report
      2014 Annual Research Report 2013 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy2014

    • Author(s)
      Ohba C, Okamoto N, Murakami Y, Kawato K, Suzuki Y, Ikeda T, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Kinoshita T, Matsumoto N, Saitsu H .
    • Journal Title

      Neurogenetics.

      Volume: 15(2) Pages: 85-92

    • DOI

      10.1007/s10048-013-0384-7

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations2014

    • Author(s)
      Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H:
    • Journal Title

      Epilepsia.

      Volume: 55 Pages: 994-1000

    • DOI

      10.1111/epi.12668

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain2014

    • Author(s)
      Ohba C, Nabatame S, Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H, Matsumoto N.
    • Journal Title

      J Hum Genet.

      Volume: 59(5) Pages: 292-295

    • DOI

      10.1038/jhg.2014.18

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy2014

    • Author(s)
      Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
    • Journal Title

      Neuromuscul Disord.

      Volume: 24(7) Pages: 642-647

    • DOI

      10.1016/j.nmd.2014.04.002

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 32014

    • Author(s)
      Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
    • Journal Title

      Neurogenetics.

      Volume: 15(3) Pages: 193-200

    • DOI

      10.1007/s10048-014-0408-y

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Numerous BAF complex genes are mutated in Coffin-Siris syndrome2014

    • Author(s)
      Miyake N, Tsurusaki Y, Matsumoto N.
    • Journal Title

      Am J Med Genet C Semin Med Genet.

      Volume: 166c(3) Pages: 257-261

    • DOI

      10.1002/ajmg.c.31406

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss2014

    • Author(s)
      Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
    • Journal Title

      Journal of Human Geneics

      Volume: 59(8) Pages: 471-4

    • DOI

      10.1038/jhg.2014.51

    • NAID

      40020171747

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa2014

    • Author(s)
      Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    • Journal Title

      PLoS One

      Volume: 9(9)

    • DOI

      10.1371/journal.pone.0108721

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.2014

    • Author(s)
      Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh R, Nakashima M, Saitsu H, Miyake N, Saito S, Matsumoto N.
    • Journal Title

      Clin Genet

      Volume: 85 Pages: 592-4

    • DOI

      10.1111/cge.12215

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Coffin-Siris syndrome is a SWI/SNF complex disorder2014

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N.
    • Journal Title

      Clin Genet.

      Volume: 85(6) Pages: 548-54

    • DOI

      10.1111/cge.12225

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Aortic aneurysm and craniosynostosis in a family with Cantu syndrome.2014

    • Author(s)
      Hiraki Y, Miyatake S, Hayashidani M, Nishimura Y, Matsuura H, Kamada M, Kawagoe T, Yunoki K, Okamoto N, Yofune H, Nakashima M, Tsurusaki Y, Satisu H, Murakami A, Miyake N, Nishimura G, *Matsumoto N.
    • Journal Title

      Am J Med Genet A.

      Volume: 164 Pages: 231-236

    • DOI

      10.1002/ajmg.a.36228

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations.2014

    • Author(s)
      98. Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M,
    • Journal Title

      Brain Dev

      Volume: May 3 Pages: 0-0

    • DOI

      10.1016/j.braindev.2013.03.006

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.2014

    • Author(s)
      Nakamura K, Jinnou H, Yokochi K, Okanishi T, Enoki H, Ohki S, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake M, Matsumoto N, Saitsu H*.
    • Journal Title

      Brain Dev.

      Volume: 36 Pages: 272-273

    • DOI

      10.1016/j.braindev.2013.03.007

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Is there relation between COL4A1/A2 mutations and antenatally detected fetal intraventricular hemorrhage?2014

    • Author(s)
      Kutuk MS, Balta B, Kodera H, Matsumoto N, Saitsu H, Doganay S, Canpolat M, Dolanbay M, Unal E, Dundar M.
    • Journal Title

      Childs Nerv Syst

      Volume: 30 Pages: 419-424

    • DOI

      10.1007/s00381-013-2338-7

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A hemizygous GYG2 mutation and Leigh syndrome: a possible link?2014

    • Author(s)
      Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E, Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
    • Journal Title

      Hum Genet

      Volume: 133(2 Pages: 225-134

    • DOI

      10.1007/s00439-013-1372-6

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation2013

    • Author(s)
      Miyake N^<#>, Yano S^<#> (# denotes equal contribution), Sakai C, Hatakeyama H, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Saitsu H, Ogata K, Goto Y, *Matsumoto N
    • Journal Title

      Hum Mutat

      Volume: 34(3):446-452 Pages: 446-452

    • DOI

      10.1002/humu.22257

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood2013

    • Author(s)
      Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima, Matsumoto N
    • Journal Title

      Nat Genet.

      Volume: 45 Pages: 445-449

    • DOI

      10.1038/ng.2562

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation.2013

    • Author(s)
      Daisuke Kurotaki et al.
    • Journal Title

      Blood.

      Volume: 121 Pages: 1839-1849

    • DOI

      10.1182/blood-2012-06-437863

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene2013

    • Author(s)
      Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C
    • Journal Title

      Proc Natl Acad Sci U S A.

      Volume: 110 Pages: 16139-16144

    • DOI

      10.1073/pnas.1308243110

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy2013

    • Author(s)
      Ravenscroft G, Ogata K, Shiina M, Matsumoto N, Laing NG et al.
    • Journal Title

      Am J Hum Genet.

      Volume: 93 Pages: 6-18

    • DOI

      10.1016/j.ajhg.2013.05.004

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] MLL2 and KDM6A mutations in patients with Kabuki syndrome.2013

    • Author(s)
      Miyake N*, Koshimizu E, Okamoto N, Mizuno S, Ogata T,at all
    • Journal Title

      American Journal of Medical Genetics, part A.

      Volume: 161 Pages: 2234-2243

    • DOI

      10.1002/ajmg.a.36072

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy.2013

    • Author(s)
      Nakamura, K., et al.,
    • Journal Title

      Am J Hum Genet.

      Volume: 93 Pages: 496-505

    • DOI

      10.1016/j.ajhg.2013.07.014

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy2013

    • Author(s)
      Gupta V, Shiina M, Ogata K, Matsumoto N, Beggs N et al.
    • Journal Title

      Am J Hum Gene

      Volume: 93 Pages: 1108-1117

    • DOI

      10.1016/j.ajhg.2013.10.020

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A de novo deletion at 16q24.3 involving ANKRD11 in a Japanese patient with KBG syndrome.2013

    • Author(s)
      Miyatake S, Murakami A, Okamoto N, Miyake N, Saitsu H, *Matsumoto N.
    • Journal Title

      Am J Med Genet A.

      Volume: 161A Pages: 1073-1077

    • DOI

      10.1002/ajmg.a.35661

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy2013

    • Author(s)
      Higashiyama Y, Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Joki H, Koyano S, Suzuki Y, Tanaka F, Kuroiwa Y, Matsumoto N
    • Journal Title

      Mov Disord.

      Volume: 28 Pages: 552-3

    • DOI

      10.1002/mds.25296

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition Microphthalmia with Limb Anomalies-like.2013

    • Author(s)
      Kondo Y, Koshimizu E, Megarbane A, Hamanoue H, Okada I, Nishiyama K, Kodera H, Miyatake S, Tsurusaki Y, Nakashima M, Doi H, Miyake N, Saitsu H, *Matsumoto N.
    • Journal Title

      Am J Med Genet A.

      Volume: 161A Pages: 1543-1546

    • DOI

      10.1002/ajmg.a.35983

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Pathogenic mutations in two families with congenital cataract identified by whole-exome sequencing.2013

    • Author(s)
      Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Mitsuko Nakashima1, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, *Matsumoto N.
    • Journal Title

      Mol Vis

      Volume: 19 Pages: 384-389

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A case of Toriello-Carey syndrome with severe congenital tracheal stenosis.2013

    • Author(s)
      Yokoo N, Marumo C, Nishida Y, Iio J, Maeda S, Nonaka M, Maihara T, Chujoh S, Katayama T, Sakazaki H, Matsumoto N, Okamoto N.
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 2291-2293

    • DOI

      10.1002/ajmg.a.35861

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.2013

    • Author(s)
      Nakamura K, et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-corresponding).
    • Journal Title

      Neurology.

      Volume: 81 Pages: 992-8

    • DOI

      10.1212/wnl.0b013e3182a43e57

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder.2013

    • Author(s)
      Koshimizu E#, Miyatake S# (# denotes equal contribution), Okamoto N, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
    • Journal Title

      PLoS One

      Volume: 8

    • DOI

      10.1371/journal.pone.0074167

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Co-occurrence of 22q11 deletion syndrome and HDR Syndrome.2013

    • Author(s)
      Fukai R, Ochi N, Murakamia A, Nakashima M, Tsurusakia Y, Saitsu H, *Matsumoto N, *Miyake N.
    • Journal Title

      Am J Med Genet A.

      Volume: 161 Pages: 2576-2581

    • DOI

      10.1002/ajmg.a.36083

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : Detailed description of 21 patients and a review of the literature2013

    • Author(s)
      Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
    • Journal Title

      Am J Med Genet Part A

      Volume: 161 Pages: 1221-1237

    • DOI

      10.1002/ajmg.a.35933

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia2013

    • Author(s)
      Iida A, Okamoto N, Miyake N, Nishimura G, Minami S, Sugimoto T, Nakashima M, Tsurusaki Y, Saitsu H, Shiina M, Ogata K, Watanabe S, Ohashi H, Matsumoto N, Ikegawa S
    • Journal Title

      J Hum Genet.

      Volume: 58 Pages: 391-394

    • DOI

      10.1038/jhg.2013.25

    • NAID

      10031184228

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Target capture sequencing for detection of mutations and copy number changes causing early-onset epileptic encephalopathy.2013

    • Author(s)
      Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nododa Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King M-C, Matsumoto N, *Saitsu H.
    • Journal Title

      Epilepsia

      Volume: 54 Pages: 1262-1269

    • DOI

      10.1111/epi.12203

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Y-chromosome-linked B- and NK-cell deficiency in mice2013

    • Author(s)
      Sun SL, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Funayama R, Kondo M, Saitsu H, Matumoto N, Nakayama K, and Ishii N
    • Journal Title

      J. Immunol

      Volume: 190 Pages: 6209-6220

    • DOI

      10.4049/jimmunol.1300303

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Diagnostic utility of exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia: identification of a novel homozygous SPG7 mutation.2013

    • Author(s)
      *Doi H, Ohba C, Tsurusaki Y, Miyake N, Saitsu H, Miyatake S, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
    • Journal Title

      Intern Med

      Volume: 52 Pages: 1629-1633

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Unique Case of de novo 5q33.3q34 Triplication with Uniparental Isodisomy of 5q34qter.2013

    • Author(s)
      Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, *Matsumoto N,*Miyake N.
    • Journal Title

      Am J Med Genet A.

      Volume: 161 Pages: 1904-1909

    • DOI

      10.1002/ajmg.a.36026

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy2013

    • Author(s)
      Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
    • Journal Title

      Hum Mutat.

      Volume: 34 Pages: 1708-14

    • DOI

      10.1002/humu.22446

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Diagnostic utility of whole exome sequencing in cerebellar atrophy in childhood.2013

    • Author(s)
      Ohba C, Osaka H, Iai M, Yamashita S, Suzuki S, Aida N, Doi H, Tomita-Katsumoto A, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
    • Journal Title

      Neurogenetics.

      Volume: 14 Pages: 225-232

    • DOI

      10.1007/s10048-013-0375-8

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia syndrome.2013

    • Author(s)
      Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusakia Y, Saitsu H, Kawashima H, *Matsumoto N, *Miyake N (*: co-correspondence).
    • Journal Title

      J Hum Genet.

      Volume: 58 Pages: 822-4

    • DOI

      10.1038/jhg.2013.104

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation2013

    • Author(s)
      Kato M, …Saitsu H.
    • Journal Title

      Epilepsia.

      Volume: in press Pages: 1282-1287

    • DOI

      10.1111/epi.12200

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.2012

    • Author(s)
      Miyatake S
    • Journal Title

      J Hum Genet

      Volume: 57 Pages: 804-806

    • DOI

      10.1038/jhg.2012.105

    • NAID

      10031145889

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Ann. Neurol.

      Volume: 72(2):298-300 Pages: 298-300

    • DOI

      10.1002/ana.23620

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Diffuse central hypomyelination presenting as4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.2012

    • Author(s)
      Terao Y, Saitsu H, Segawa M, Kondo Y, Sakamoto K, Matsumoto N et al.
    • Journal Title

      J. Neurol. Sci.

      Volume: 320(1-2) Pages: 102-105

    • DOI

      10.1016/j.jns.2012.07.005

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity.2012

    • Author(s)
      Tsurusaki Y, Saitoh S, Tomizawa K, Sudo A, Asahina N, Shiraishi H, Ito J, Tanaka H, Doi H, Saitsu H, Miyake N, Matsumoto N.
    • Journal Title

      Neurogenet.

      Volume: 13 Pages: 327-332

    • DOI

      10.1007/s10048-012-0337-6

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] PAPSS2 mutations cause autosomal recessive brachyolmia2012

    • Author(s)
      Miyake N^<#>, Elcioglu NH^<#> (# denotes equal contribution), Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho T-J, Kim O-H, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S
    • Journal Title

      J. Med. Genet.

      Volume: 49(8): 533-538 Pages: 533-538

    • DOI

      10.1136/jmedgenet-2012-101039

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia2012

    • Author(s)
      Saitsu H
    • Journal Title

      Epilepsia

      Volume: 53 Pages: 1441-1449

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Nat. Genet.

      Volume: 44 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [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
    • Related Report
      2016 Annual Research Report
    • 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
    • Related Report
      2016 Annual Research Report
    • 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
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [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
    • Related Report
      2016 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 「最先端テクノロジーによる疾患ゲノム解析」2015

    • Author(s)
      松本直通
    • Organizer
      第1回日本産婦人科遺伝診療学会学術講演会・教育講演
    • Place of Presentation
      長崎ブリックホール(長崎県長崎市)
    • Year and Date
      2015-12-18
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 「ヒト疾患とrare variants」2015

    • Author(s)
      松本直通
    • Organizer
      第23回食細胞機能異常症研究会、特別講演
    • Place of Presentation
      東京慈恵医科大学(東京都港区)
    • Year and Date
      2015-12-12
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] “Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb”2015

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      Biochemistry and Molecular Biology (BMB) 2015
    • Place of Presentation
      Kobe portpia hotel, Kobe. (兵庫県神戸市)
    • Year and Date
      2015-12-01
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] “遺伝子解析におけるドロップレットディジタルPCRの活用”2015

    • Author(s)
      松本直通
    • Organizer
      第38回日本分子生物学会年会(第88回日本生化学会大会)BMB2015, ランチョンセミナー
    • Place of Presentation
      神戸ポートピアホテル(兵庫県神戸市)
    • Year and Date
      2015-12-01
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] “Rare variants in human diseases” (invited)2015

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      University of Split Lecture
    • Place of Presentation
      University of Split, Split, Croatia.
    • Year and Date
      2015-11-09
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] “Next Generation Sequencing Dissecting Human “Genetic” Diseases” (invited)2015

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      The VI Croatian Congress of Human Genetics
    • Place of Presentation
      Hotel President Split, Split, Croatia.
    • Year and Date
      2015-11-06
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 「低頻度体細胞モザイク変異が惹起するヒト疾患」(シンポジスト)2015

    • Author(s)
      松本直通
    • Organizer
      日本人類遺伝学会第60回大会・シンポジウム9「ヒト疾患に関わる体細胞モザイク変異とその検出法」
    • Place of Presentation
      京王プラザホテル(東京都新宿区)
    • Year and Date
      2015-10-16
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 「遺伝性疾患における話題提供」2015

    • Author(s)
      松本直通
    • Organizer
      第22回日本遺伝子診療学会大会・プレシジョン医療と診断情報の質保証(シンポジウム3)
    • Place of Presentation
      かながわ労働プラザ(神奈川県横浜市)
    • Year and Date
      2015-07-19
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 「ヒト疾患とrare variants」2015

    • Author(s)
      松本直通
    • Organizer
      第33回内分泌代謝学サマーセミナー・続・内分泌至上主義・シンポジスト(招聘)
    • Place of Presentation
      柳川藩主立花邸(福岡県柳川市)
    • Year and Date
      2015-07-09
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 「全エクソーム解析データの様々な活用法」2015

    • Author(s)
      松本直通
    • Organizer
      2015アジレントゲノミクスフォーラム・招聘講演
    • Place of Presentation
      ヒューリックホール浅草橋(東京都台東区)
    • Year and Date
      2015-06-16
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] “Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy”(poster),2015

    • Author(s)
      Naomichi Matsumoto, Eriko Koshimizu, Satoko Miyatake,
    • Organizer
      European Human Genetics Conference 2015
    • Place of Presentation
      Glasgow, Scotland, United Kingdom,
    • Year and Date
      2015-06-09
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] 「遺伝性疾患の次世代シーケンス解析」2015

    • Author(s)
      松本直通
    • Organizer
      産総研Computational Biology Research Center (CBRC)セミナー
    • Place of Presentation
      産総研・臨海副都心センター別館(東京都江東区)
    • Year and Date
      2015-04-23
    • Related Report
      2015 Annual Research Report
    • Invited
  • [Presentation] 個別化医療を進めるために2014

    • Author(s)
      松本 直通
    • Organizer
      日本遺伝子診療学会:遺伝子診断・検査技術推進フォーラム公開シンポジウム2014
    • Place of Presentation
      コクヨホール(東京都)
    • Year and Date
      2014-12-12
    • Related Report
      2014 Annual Research Report
  • [Presentation] Coffin-Siris症候群の新規遺伝子探索2014

    • Author(s)
      松本 直通
    • Organizer
      NCNP(精神・神経疾患研究開発費(後藤班)平成26年度報告会
    • Place of Presentation
      NCNP(東京都)
    • Year and Date
      2014-12-09
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] TUBB4A変異による先天性白質形成不全症2014

    • Author(s)
      松本 直通
    • Organizer
      NCNP(精神・神経疾患研究開発費(佐々木班)平成26年度報告会
    • Place of Presentation
      NCNP(東京都)
    • Year and Date
      2014-11-30
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] “Congenital intellectual disability syndromes arising from mutations of epigenetic regulators”in the symposium for epigenetic dysregulation and disease.2014

    • Author(s)
      松本 直通
    • Organizer
      The 37th annual meeting of the molecular biology society of Japan
    • Place of Presentation
      Pacifico Yokohama(神奈川県)
    • Year and Date
      2014-11-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] 人類遺伝学研究におけるデータベースの重要性2014

    • Author(s)
      松本 直通
    • Organizer
      日本人類遺伝学会第59回大会 NPGランチョンセミナー
    • Place of Presentation
      タワーホール船堀(東京都)
    • Year and Date
      2014-11-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた染色体・ゲノム構造異常解析2014

    • Author(s)
      松本 直通
    • Organizer
      日本人類遺伝学会第59回大会
    • Place of Presentation
      タワーホール船堀(東京都)
    • Year and Date
      2014-11-21
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 次世代シーケンサーによる遺伝子解析2014

    • Author(s)
      松本 直通
    • Organizer
      第56回日本先天代謝異常学会総会
    • Place of Presentation
      江陽グランドホテル・仙台(宮城県)
    • Year and Date
      2014-11-14
    • Related Report
      2014 Annual Research Report
  • [Presentation] 次世代シーケンサーの活用法2014

    • Author(s)
      松本 直通
    • Organizer
      第17回胎児遺伝子診断研究会
    • Place of Presentation
      長崎ハウステンボス(長崎県)
    • Year and Date
      2014-11-07
    • Related Report
      2014 Annual Research Report
  • [Presentation] ゲノム解析と医療--1000ドルゲノム時代を迎えて--2014

    • Author(s)
      松本 直通
    • Organizer
      KOBE内分泌・代謝スキルアップセミナー特別講演
    • Place of Presentation
      ホテルクラウンパレス神戸(兵庫県)
    • Year and Date
      2014-08-23
    • Related Report
      2014 Annual Research Report
  • [Presentation] ヒト発生・発達異常の分子探索と診断法の開発2014

    • Author(s)
      松本 直通
    • Organizer
      文部科学省イノベーションシステム整備事業先端融合領域イノベーション創出拠点形成プログラム「翻訳後修飾プロテオミクス医療研究拠点の形成」第5回公開シンポジウム
    • Place of Presentation
      県民共済みなとみらいホール(神奈川県)
    • Year and Date
      2014-08-19
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 難病を解き明かすヒト全遺伝子・全ゲノム解析2014

    • Author(s)
      松本 直通
    • Organizer
      横浜市立大学先端医科学研究センター市民講座
    • Place of Presentation
      ウィング横浜(神奈川県)
    • Year and Date
      2014-08-07
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 遺伝性疾患のゲノム解析---1000ドルゲノム時代を迎えて---2014

    • Author(s)
      松本 直通
    • Organizer
      がん研臨床試験・研究センター 第12回臨床研究セミナー
    • Place of Presentation
      がん研究会(東京都)
    • Year and Date
      2014-07-03
    • Related Report
      2014 Annual Research Report
  • [Presentation] 発達障害のゲノム解析2014

    • Author(s)
      松本 直通
    • Organizer
      第110回日本精神神経学会学術総会
    • Place of Presentation
      パシフィコ横浜(神奈川県)
    • Year and Date
      2014-06-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] ゲノム解析と医療:1000ドルゲノム時代を迎えて2014

    • Author(s)
      松本 直通
    • Organizer
      藤田保健衛生大学遺伝子網羅的解析センター開所記念セミナー・特別講演
    • Place of Presentation
      藤田保健衛生大学(愛知県)
    • Year and Date
      2014-06-21
    • Related Report
      2014 Annual Research Report
  • [Presentation] Neurodegeneration with Brain Iron Accumulation (NBIA): 急速に広がる疾患概念2014

    • Author(s)
      松本 直通
    • Organizer
      第55回日本神経病理学会総会学術集会
    • Place of Presentation
      学術総合センター(東京都)
    • Year and Date
      2014-06-07
    • Related Report
      2014 Annual Research Report
  • [Presentation] ゲノム解析と医療:1000ドルゲノムシーケンス時代を迎えて2014

    • Author(s)
      松本 直通
    • Organizer
      信州大学先鋭領域融合研究群バイオメディカル研究所設立記念講演会・記念講演会
    • Place of Presentation
      信州大学医学部(長野県)
    • Year and Date
      2014-05-25
    • Related Report
      2014 Annual Research Report
  • [Presentation] ゲノム解析と医療:1000ドルゲノム時代を迎えて2014

    • Author(s)
      松本 直通
    • Organizer
      九州大学産婦人科セミナー
    • Place of Presentation
      第二博多偕成ビルアイクレオ(福岡県)
    • Year and Date
      2014-05-21
    • Related Report
      2014 Annual Research Report
  • [Presentation] 遺伝性疾患におけるエクソーム解析の有用性2014

    • Author(s)
      松本 直通
    • Organizer
      第382回医学研究の基礎を語り合う集い
    • Place of Presentation
      東京慈恵医科大学(東京都)
    • Year and Date
      2014-04-21
    • Related Report
      2014 Annual Research Report
  • [Presentation] Next generation sequencing dissecting human genetic diseases2014

    • Author(s)
      松本 直通
    • Organizer
      The 9th Cherry Blossom Symposium.
    • Place of Presentation
      横浜赤レンガ倉庫(神奈川県)
    • Year and Date
      2014-04-19
    • Related Report
      2014 Annual Research Report
  • [Presentation] 次世代シーケンサー解析のポテンシャルと小児医療2014

    • Author(s)
      松本 直通
    • Organizer
      第37回日本小児遺伝学会学術集会・シンポジウム
    • Place of Presentation
      名古屋市立大学桜山キャンパス(愛知県)
    • Year and Date
      2014-04-10
    • Related Report
      2014 Annual Research Report
  • [Presentation] 遺伝性疾患のエクソーム解析2012

    • Author(s)
      松本直通
    • Organizer
      Advans研究会2012
    • Place of Presentation
      ホテルグランドパレス・東京
    • Year and Date
      2012-12-15
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 発達障害におけるゲノム解析:次世代技術を用いて2012

    • Author(s)
      松本直通
    • Organizer
      第35回日本分子生物学会年会
    • Place of Presentation
      福岡国際会議場・福岡
    • Year and Date
      2012-12-13
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] エクソーム解析2012

    • Author(s)
      松本直通
    • Organizer
      第152回染色体研究会
    • Place of Presentation
      東京医科大学病院・東京
    • Year and Date
      2012-12-01
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Medelian exome2012

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      The 12th annual meeting of East Asian Union of Human Genetics Societies.
    • Place of Presentation
      Seoul National University Hospital, Seoul, Korea
    • Year and Date
      2012-11-29
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Matsumoto N
    • Organizer
      American Society of Human Genetics Meeting2012
    • Place of Presentation
      Moscone Center, San Francisco, CA, USA
    • Year and Date
      2012-11-08
    • Related Report
      2012 Annual Research Report
  • [Presentation] 遺伝性疾患の効率的な次世代シーケンス解析2012

    • Author(s)
      松本直通
    • Organizer
      人類遺伝学会第57回大会
    • Place of Presentation
      京王プラザホテル・東京
    • Year and Date
      2012-10-25
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Isolation of genes causative for genetic diseases by next generation sequencer2012

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      人類遺伝学会第57回大会
    • Place of Presentation
      京王プラザホテル・東京
    • Year and Date
      2012-10-25
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 遺伝性疾患のエクソーム解析2012

    • Author(s)
      松本直通
    • Organizer
      生命医薬情報学連合大会2012
    • Place of Presentation
      タワーホール船堀・東京
    • Year and Date
      2012-10-17
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Exome sequencing in mendelian disorders.2012

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      Translational Genomics Conference 2012
    • Place of Presentation
      Hyatt Reagency Jeju, Jeju, Korea
    • Year and Date
      2012-10-13
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 自閉症スペクトラムとてんかんに着目したゲノム解析2012

    • Author(s)
      松本直通
    • Organizer
      第34回日本生物学的精神医学会
    • Place of Presentation
      神戸国際会議場・兵庫
    • Year and Date
      2012-09-28
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Mendelian Exome Analysis

    • Author(s)
      Naomichi Matsumoto
    • Organizer
      The 10th International Workshop on Advanced Genomics
    • Place of Presentation
      National Center of Sciences, Tokyo
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] De novo mutations in the autophagy gene encoding WDR45 (WIPI4) cause static encephalopathy of childhood with neurodegeneration in adulthood

    • Author(s)
      N. Matsumoto, T. Nishimura, K. Muramatsu, H. Kodera, S. Kumada, K. Sugai, E. Kasai-Yoshida, N. Sawaura, H. Nishida, A. Hoshino, F. Ryujin, S. Yoshioka, H. Arakawa, M. Kato, N. Mizushima, H. Saitsu
    • Organizer
      European Conference of Human Genetic 2013
    • Place of Presentation
      Palais des Congr&egrave;s, Paris, France
    • Related Report
      2013 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いてわかってきたこと

    • Author(s)
      松本直通
    • Organizer
      第17回小児分子内分泌研究会
    • Place of Presentation
      札幌北広島クラッセホテル・北海道
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 疾患ゲノム解析における次世代シーケンサーの有用性

    • Author(s)
      松本直通
    • Organizer
      第20回日本遺伝子診療学会大会
    • Place of Presentation
      アクトシティ―浜松コングレスセンター・静岡県浜松市
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析

    • Author(s)
      松本直通
    • Organizer
      CiRA genomics epigenomics and bioinformatics seminar series VIII
    • Place of Presentation
      CiRA京都大学・京都府京都市
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] NGSがもたらしたヒト疾患ゲノム解析のパラダイムシフト

    • Author(s)
      松本直通
    • Organizer
      現場の会第三回研究会
    • Place of Presentation
      神戸国際会議場・兵庫県神戸市
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析:現状と限界

    • Author(s)
      松本直通
    • Organizer
      第22回発達腎研究会
    • Place of Presentation
      高槻市生涯学習センター・大阪府高槻市
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] 次世代シーケンス解析で分かってきたこと

    • Author(s)
      松本直通
    • Organizer
      第18回山形小児神経研究会
    • Place of Presentation
      パレスグランデール・山形県山形市
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] ヒト疾患エクソーム解析の現状と課題

    • Author(s)
      松本直通
    • Organizer
      第58回日本人類遺伝学会大会
    • Place of Presentation
      江陽グランドホテル仙台・宮城県仙台市
    • Related Report
      2013 Annual Research Report
  • [Presentation] 希少疾患・難病の全エクソーム解析-現状と課題-

    • Author(s)
      松本直通
    • Organizer
      日経バイオテク「希少疾患・難病の治療薬開発におけるゲノム活用」
    • Place of Presentation
      秋葉原コンベンションホ―ル・東京
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Remarks] 新学術領域研究「転写サイクル」ホームページ

    • URL

      http://transcriptioncycle.org/

    • Related Report
      2012 Annual Research Report
  • [Patent(Industrial Property Rights)] 重度の知的障害及び運動発達遅滞を伴う難治性てんかんの検出方法2014

    • Inventor(s)
      松本直通・才津浩智
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2014-06-09
    • Related Report
      2014 Annual Research Report
  • [Patent(Industrial Property Rights)] コフィン-シリス症候群の検出方法2014

    • Inventor(s)
      松本直通・三宅紀子・鶴崎美徳
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2014-07-14
    • Related Report
      2014 Annual Research Report
  • [Patent(Industrial Property Rights)] 孔脳症又は脳出血のリスクを予測する方法2014

    • Inventor(s)
      松本直通・才津浩智
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2014-05-09
    • Related Report
      2014 Annual Research Report
    • Overseas
  • [Patent(Industrial Property Rights)] ミトコンドリア複合体III欠乏症患者又は保因者の検出方法2014

    • Inventor(s)
      松本直通/三宅紀子
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Filing Date
      2014-02-07
    • Related Report
      2013 Annual Research Report
  • [Patent(Industrial Property Rights)] Coffin-Siris症候群の新規遺伝子診断法2013

    • Inventor(s)
      鶴崎美徳/松本直通
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2013-252720
    • Filing Date
      2013-12-06
    • Related Report
      2013 Annual Research Report
  • [Patent(Industrial Property Rights)] ケトン血症を伴うリー脳症患者または保因者の検出法2013

    • Inventor(s)
      松本直通/三宅紀子
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2013-157339
    • Filing Date
      2013-07-31
    • Related Report
      2013 Annual Research Report
  • [Patent(Industrial Property Rights)] 小児期のてんかんおよび不随意運動をきたす疾患の検出方法2013

    • Inventor(s)
      才津浩智/松本直通
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Rights Type
      特許
    • Industrial Property Number
      2013-123660
    • Filing Date
      2013-06-12
    • Related Report
      2013 Annual Research Report
  • [Patent(Industrial Property Rights)] ミトコンドリア複合体III欠乏症の確定診断法2012

    • Inventor(s)
      松本直通・三宅紀子
    • Industrial Property Rights Holder
      松本直通・三宅紀子
    • Industrial Property Rights Type
      特許
    • Filing Date
      2012-08-16
    • Related Report
      2012 Annual Research Report

URL: 

Published: 2012-11-27   Modified: 2019-07-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi