Development of genome-partitioning technologies for next generation sequencing

• Project/Area Number: 21249024
• Research Category: Grant-in-Aid for Scientific Research (A)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: Yokohama City University
• Principal Investigator: MATSUMOTO Naomichi 横浜市立大学, 医学研究科, 教授 (80325638)
• Co-Investigator(Kenkyū-buntansha): MIYAKE Noriko 横浜市立大学, 医学部, 准教授 (40523494)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥23,920,000 (Direct Cost: ¥18,400,000、Indirect Cost: ¥5,520,000); Fiscal Year 2011: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000); Fiscal Year 2010: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000)
• Keywords: 分子遺伝学 / ゲノム / 領域選択技術 / 高速シーケンス / 遺伝子変異

Research Abstract

The advent and frequent update of next generation sequencers(NGSs) can attain the appropriate accuracy for mutation analysis and push disease-related genome analysis into the new stages. We now use Illumina Genome Analyzer(GA) IIx and Hiseq2000 which can produce as much as 60-Gb and 600-Gb sequences in one run, respectively. To focus on genes, we utilized exon capture methods such as SureSelect(Agilent). The current NGS protocol uses 100-108-bp pair-end reads and usually produces 8-9 Gb sequences(per one sample) could be enough for analysis of the whole exome : 90% of exome bait regions are covered by 8-10 reads or more. Sequences are aligned using MAQ, BWA, Novoalign and commercial-based NextGENe software all of which are able to extract nucleotide changes and small insertions/deletions. The most critical step is the priority scheme selecting variants. We have been successful in addressing culprit mutations in several diseases.

Research Products

• [Journal Article] Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing (2011)
  • Author(s): Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
  • Journal Title: J Med Genet Volume: 48(9) Pages: 606-609
• [Journal Article] Genetic commentary : De novo mutations in epilepsy (2011)
  • Author(s): Saitsu H, Matsumoto N.
  • Journal Title: Dev Med Child Neurol Volume: 53(9) Pages: 806-807
• [Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy (2011)
  • Author(s): Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N.
  • Journal Title: Am J Hum Genet Volume: 90(1) Pages: 86-90
• [Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy (2011)
  • Author(s): Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N.
  • Journal Title: Clin Genet Volume: 80(2) Pages: 161-166
• [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation (2011)
  • Author(s): Doi H, Yoshida K, T Yasuda, Fukuda M, Fukuda Y, Morita H, Ikeda S-i, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N.
  • Journal Title: Am J Hum Genet Volume: 89(2) Pages: 320-327
• [Journal Article] SMOC1 is essential for ocular and limb development in humans and mice (2011)
  • Author(s): Okada I, et al., Matsumto N, et al
  • Journal Title: Am J Hum Genet Volume: 88 Pages: 30-41
  • Peer Reviewed
• [Journal Article] Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion : Report of a new patient (2011)
  • Author(s): Tohyama J, et al., Matsumoto N
  • Journal Title: Am J Med Genet Part A Volume: 155 Pages: 130-131
  • Peer Reviewed
• [Journal Article] CANT1 is also responsible for Desbuquois dysplasia, type 2 and Kim variant (2011)
  • Author(s): Furuichi T, et al., Matsumoto N, et al
  • Journal Title: J Med Genet Volume: 48 Pages: 32-37
  • Peer Reviewed
• [Journal Article] Paternal mosaicism of a STXBP1 mutation in Ohtahara Syndrome (2011)
  • Author(s): Saitsu H, et al., Matsumoto N
  • Journal Title: Clin Genet Volume: 80 Pages: 484-488
  • Peer Reviewed
• [Journal Article] Familial Simpson-Golabi-Behmel syndrome : Studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations (2011)
  • Author(s): Yano S, et al., Matsumoto N, et al
  • Journal Title: Clin Genet Volume: 80 Pages: 466-471
  • Peer Reviewed
• [Journal Article] Breakpoint determination of X ; autosome balanced translocations in four patients with premature ovarian failure (2011)
  • Author(s): Nishimura-Tadaki A, et al., Matsumoto N
  • Journal Title: J Hum Genet Volume: 52 Pages: 156-160
  • Peer Reviewed
• [Journal Article] A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty (2011)
  • Author(s): Hiraki Y, et al., Matsumoto N
  • Journal Title: Am J Med Genet Part A Volume: 152 Pages: 409-414
  • Peer Reviewed
• [Journal Article] Axenfeld-Rieger anomaly and Axenfeld-Rieger syndrome : clinical, molecular-cytogenetic, and DNA array analyses on three patients with chromosomal defects at 6p25 (2011)
  • Author(s): Tonoki H, et al., Matsumoto N, et al
  • Journal Title: Am J Med Genet Part A Volume: 155 Pages: 2925-2932
  • Peer Reviewed
• [Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis (2011)
  • Author(s): Tadaki H, et al., Matsumoto N
  • Journal Title: J Hum Genet Volume: 56 Pages: 343-347
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant (2011)
  • Author(s): Miyake N, et al., Matsumoto N
  • Journal Title: Clin Genet Volume: 80 Pages: 293-296
  • Peer Reviewed
• [Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa (2011)
  • Author(s): Tadaki H, et al., Matsumoto N
  • Journal Title: Int J Immunogenet Volume: 38 Pages: 287-293
  • Peer Reviewed
• [Journal Article] Rapid detection of a mutation causing X-linked leukodystrophy by exome sequencing.j (2011)
  • Author(s): Tsurusaki Y, et al., Matsumoto N, et al
  • Journal Title: J Med Genet Volume: 48 Pages: 606-609
  • Peer Reviewed
• [Journal Article] Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) in an infant with Down syndrome (2011)
  • Author(s): Narumi Y, et al., Matsumoto N, et al
  • Journal Title: Clin Dysmorphol Volume: 20 Pages: 166-167
  • Peer Reviewed
• [Journal Article] A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia (2011)
  • Author(s): Dai J, et al., Matsumoto N, et al
  • Journal Title: J Hum Genet Volume: 56 Pages: 398-400
  • Peer Reviewed
• [Journal Article] Genetic commentary : De novo mutations in epilepsy (2011)
  • Author(s): Saitsu H, Matsumoto N
  • Journal Title: Dev Med Child Neurol Volume: 53 Pages: 806-807
  • Peer Reviewed
• [Journal Article] Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome : Observation of two additional patients and comprehensive review of 20 reported patients (2011)
  • Author(s): Shimizu K, et al., Matsumoto N, et al
  • Journal Title: Am J Med Genet Part A Volume: 155 Pages: 1949-1958
  • Peer Reviewed
• [Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2) (2011)
  • Author(s): Saitsu H, et al., Matsumoto N
  • Journal Title: Am J Med Genet Part A Volume: 158 Pages: 199-205
  • Peer Reviewed
• [Journal Article] Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal recessive hypomyelinating leukoencephalopathy (2011)
  • Author(s): Saitsu H, et al., Matsumoto N
  • Journal Title: Am J Hum Genet Volume: 90 Pages: 86-90
  • Peer Reviewed
• [Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy (2011)
  • Author(s): Tsurusaki Y, et al., Matsumoto N
  • Journal Title: Clin Genet Volume: 80 Pages: 161-166
  • Peer Reviewed
• [Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome (2011)
  • Author(s): Hannibal MC, et al., Matsumoto N, et al
  • Journal Title: Am J Med Genet Part A Volume: 155 Pages: 1511-1516
  • Peer Reviewed
• [Journal Article] A response to : Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, "Dermatan sulfate-deficient adducted thumb-clubfoot syndrome". Which name is appropriate, "Adducted thumb-clubfoot syndrome" or "Ehlers-Danlos syndrome"? (2011)
  • Author(s): Kosho T, et al., Matsumoto N
  • Journal Title: Hum Mut Volume: 32 Pages: 1507-1509
  • Peer Reviewed
• [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation (2011)
  • Author(s): Doi H, et al., Matsumoto N
  • Journal Title: Am J Hum Genet Volume: 89 Pages: 320-327
  • Peer Reviewed
• [Journal Article] A homozygous Mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder (2011)
  • Author(s): Abdel-Salam GMH, et al., Matsumoto N
  • Journal Title: Am J Med Genet Part A Volume: 155 Pages: 2885-2896
  • Peer Reviewed
• [Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination spastic quadriplegia, and developmental delay (2010)
  • Author(s): Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N.
  • Journal Title: Am J Hum Genet Volume: 86(6) Pages: 881-889
• [Journal Article] Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-Like Disease (2010)
  • Author(s): Osaka H, Yamamoto R, Hamanoue H, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K.
  • Journal Title: Ann Neurol Volume: 68(2) Pages: 250-254
• [Journal Article] Loss of decorin dermatan sulfate impairing collagen bundle formation in a new type of Ehlers-Danlos syndrome (2010)
  • Author(s): Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki T, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.
  • Journal Title: Hum Mut Volume: 31(8) Pages: 966-974
• [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome (2010)
  • Author(s): Ng S, Bigham A, Buckingham K, Hannibal M, McMillin M, Gildersleeve H, Beck A, Tabor H, Cooper G, Mefford H, Lee C, Turner E, Smith J, Rieder M, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson D, Bamshad M, Shendure J.
  • Journal Title: Nat Genet Volume: 42(9) Pages: 790-793
• [Journal Article] A case of Baraitser-Winter syndrome with unusual brain MRI findings of pachygyria, subcortical band heterotopia and periventricular heter otopias. (2010)
  • Author(s): Shiihara T, others, Matsumoto N, others.
  • Journal Title: Brain Dev Volume: 32 Pages: 502-505
  • Peer Reviewed
• [Journal Article] Dominant negative mutations in α-II spectrin cause early onset West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (2010)
  • Author(s): Saitsu H, others, Matsumoto N.
  • Journal Title: Am J Hum Genet Volume: 86 Pages: 881-889
  • Peer Reviewed
• [Journal Article] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern. (2010)
  • Author(s): Saitsu H, others, Matsumoto N.
  • Journal Title: Epilepsia Volume: 51 Pages: 2397-2405
  • Peer Reviewed
• [Journal Article] Analysis of an insertion mutation in a cohort of 93 patients with spinocerebellar ataxia type 31 (SCA31) from Nagano, Japan. (2010)
  • Author(s): Sakai H, others, Matsumoto N
  • Journal Title: Neurogenet Volume: 11 Pages: 409-415
  • Peer Reviewed
• [Journal Article] Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-Like Disease. (2010)
  • Author(s): Osaka H, others, Matsumoto N, Inoue K
  • Journal Title: Ann Neurol Volume: 68 Pages: 250-254
  • Peer Reviewed
• [Journal Article] De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation. (2010)
  • Author(s): Nishimura A, others, Matsumoto N
  • Journal Title: Am J Med Genet Volume: 152A Pages: 1322-1325
  • Peer Reviewed
• [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly. (2010)
  • Author(s): Komoike Y, others, Matsumoto N, others
  • Journal Title: Genesis Volume: 48 Pages: 233-243
  • Peer Reviewed
• [Journal Article] Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2 : Clinical features and (99m)Tc-ECD brain perfusion SPECT findings. (2010)
  • Author(s): Doi H, others, Matsumoto N, others.
  • Journal Title: J Neurol Sci Volume: 290 Pages: 172-176
  • Peer Reviewed
• [Journal Article] A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. (2010)
  • Author(s): Kosho T, others, Matsumoto N
  • Journal Title: Am J Med Genet Volume: 152A Pages: 1333-1346
  • Peer Reviewed
• [Journal Article] Loss of decorin dermatan sulfate impairing collagen bundle formation in a new type of Ehlers-Danlos syndrome. (2010)
  • Author(s): Miyake N, others, Matsumoto N
  • Journal Title: Hum Mut Volume: 31 Pages: 966-974
  • Peer Reviewed
• [Journal Article] Rudimentary claws and pigmented nail-like structures on the distal tips of the digits of Wnt7a mutant mice : Wnt7a suppresses nail-like structure development in mice. (2010)
  • Author(s): Kimura S, others, Matsumoto N, Ishibashi M.
  • Journal Title: Birth Defects Res A Clin Mol Teratol Volume: 88 Pages: 487-496
  • Peer Reviewed
• [Journal Article] Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. (2010)
  • Author(s): Kanazawa K, others, Matsumoto N
  • Journal Title: Mov Disord Volume: 25 Pages: 2265-2267
  • Peer Reviewed
• [Journal Article] Functional characterization of the zebrafish WHSC1-related gene, a homologue of human NSD2. (2010)
  • Author(s): Yamada-Okabe T, others, Matsumoto N
  • Journal Title: Biochem Biophys Res Commun Volume: 402 Pages: 335-339
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (2010)
  • Author(s): Ng S, others, Matsumoto N, others
  • Journal Title: Nat Genet Volume: 42 Pages: 790-793
  • Peer Reviewed
• [Journal Article] Gene analysis of Marfan syndrome (2009)
  • Author(s): Matsumoto N
  • Journal Title: Proceedings of VIII annual international symposium on advances in understanding aortic diseases 1 Pages: 23-27
• [Journal Article] Severity and progression rate of cerebellar ataxia in 16q-linked autosomal dominant cerebellar ataxia (16q-ADCA) in the endemic Nagano area of Janan (2009)
  • Author(s): Yoshida K, others, Matsumoto N, others
  • Journal Title: Cerebellum 8 Pages: 46-51
  • Peer Reviewed
• [Journal Article] A locus for Ophthalmo-acromelic syndrome mapped to 10p11.23. (2009)
  • Author(s): Hamanoue H, others, Matsumoto N
  • Journal Title: Am J Med Genet 149A Pages: 336-342
  • Peer Reviewed
• [Journal Article] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome (2009)
  • Author(s): Kuniba H, others, Matsumoto N, others
  • Journal Title: J Hum Genet 54 Pages: 304-309
  • Peer Reviewed
• [Journal Article] Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split foot malformation and hearing loss (2009)
  • Author(s): Saitsu H, others, Matsumoto N.
  • Journal Title: Am J Med Genet 149A Pages: 1224-1230
  • Peer Reviewed
• [Journal Article] Identification of Independent APP Locus Duplication in Japanese Patients with Early-Onset Alzheimer's Disease (2009)
  • Author(s): Kasuga K, others, Matsumoto N, others
  • Journal Title: J Neurol Neurosurg Psychiatry 80 Pages: 1050-1052
  • Peer Reviewed
• [Journal Article] Gene screening of 104 patients with congenital heart disease revealed a fresh GATA4 mutation in atrial septal defect (2009)
  • Author(s): Hamanoue H, others, Matsumoto N.
  • Journal Title: Cardiol Young 19 Pages: 482-485
  • Peer Reviewed
• [Journal Article] SMOC1 is essential for ocular and limb development in humans and mice
  • Author(s): Okada I, Hamanoue H, (denotes equal contribution) Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K-i, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H.
  • Journal Title: Am J Hum
• [Presentation] Disease genome analysis using next generation sequencer (2011)
  • Author(s): Naomichi Matsumoto
  • Organizer: The 34^<th> annual meeting of the molecular biology society of Japan
  • Place of Presentation: Pacifico Yokohama, Yokohama(Invited speaker)
  • Year and Date: 2011-12-14
• [Presentation] 遺伝性神経疾患のエクソーム解析 (2011)
  • Author(s): 松本直通
  • Organizer: 国立精神・神経医療研究センターTMC棟/クラスター研究棟開棟記念講演会
  • Place of Presentation: 国立精神・神経医療研究センター・小平(招待講演)
  • Year and Date: 2011-11-22
• [Presentation] ヒト遺伝性疾患の原因解明を目指して (2011)
  • Author(s): 松本直通
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ・千葉(学会賞受賞講演)(招待講演)
  • Year and Date: 2011-11-11
• [Presentation] 次世代シーケンサーを用いたヒト疾患ゲノム解析法 (2011)
  • Author(s): 松本直通
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ・千葉(招待講演)
  • Year and Date: 2011-11-11
• [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析の現状 (2011)
  • Author(s): 松本直通
  • Organizer: 第18回遺伝性疾患に関する出生前診断研究会
  • Place of Presentation: 佐賀大学医学部・佐賀(招待講演)
  • Year and Date: 2011-10-01
• [Presentation] 次世代シーケンス法による疾患研究の最前線 (2011)
  • Author(s): 松本直通
  • Organizer: 第一回サイトジェノミクスセミナー
  • Place of Presentation: 三菱化学メディエンス志村事業所・東京(招待講演)
  • Year and Date: 2011-09-17
• [Presentation] もやもや病の遺伝学:最近わかってきたこと (2011)
  • Author(s): 松本直通
  • Organizer: 大阪難症例脳血管疾患研究会・大阪もやもや病研究会
  • Place of Presentation: 千里阪急ホテル・大阪(招待講演)
  • Year and Date: 2011-06-18
• [Presentation] Identification of two epilepsy-related genes from a 2.25-Mb microdeletion in one patient (2011)
  • Author(s): Naomichi Matsumoto
  • Organizer: Invited lecture at Department of Human Genetics
  • Place of Presentation: Leiden University, Leiden, The Netherland
  • Year and Date: 2011-03-26
• [Presentation] Identification of two genes responsible for age-dependent epileptic encephalopathy (2010)
  • Author(s): Matsumoto N
  • Organizer: 第22回NIH金曜会
  • Place of Presentation: Bethesda, MD, USA(invited speaker)
  • Year and Date: 2010-11-05
• [Presentation] 疾患ゲノム解析:遺伝性疾患のエクソーム解析 (2010)
  • Author(s): 松本直通
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮ソニックシティ、大宮(シンポジスト)
  • Year and Date: 2010-10-30
• [Presentation] Identification of two epilepsy-related genes from a 2.25-Mb deletion in one patient. (2010)
  • Author(s): Matsumoto N
  • Organizer: The 4^<th> Asian Chromosome Colloquium
  • Place of Presentation: Beijing, China(invited speaker)
  • Year and Date: 2010-10-13
• [Presentation] Haploinsufficienty of STXBP1 causes Ohtahara syndrome (2010)
  • Author(s): Matsumoto N
  • Organizer: Joint Egyptian-Japanese Scientific Workshop, "A new era of genetic diseases"
  • Place of Presentation: Cairo, Egypt(invited speaker)
  • Year and Date: 2010-10-04
• [Presentation] Microarray technologies : Hightways to genomic aberrations (2010)
  • Author(s): Matsumoto N
  • Organizer: Joint Egyptian-Japanese Scientific Workshop, "A new era of genetic diseases"
  • Place of Presentation: Cairo, Egypt(invited speaker)
  • Year and Date: 2010-10-03
• [Presentation] Isolation of the gene responsible for a new type of Ehlers-Danlos syndrome (2010)
  • Author(s): Matsumoto N
  • Organizer: Joint Egyptian-Japanese Scientific Workshop, "A new era of genetic diseases"
  • Place of Presentation: Cairo, Egypt(invited speaker)
  • Year and Date: 2010-10-03
• [Presentation] 年齢依存性てんかん性脳症の新知見 (2010)
  • Author(s): 松本直通
  • Organizer: 久留米大学Pediatric Ground Rounds
  • Place of Presentation: 久留米大学医学部、久留米(招聘講演)
  • Year and Date: 2010-07-16
• [Presentation] 染色体異常からの疾患遺伝子探索 (2010)
  • Author(s): 松本直通
  • Organizer: 第113回日本小児科学会学術集会
  • Place of Presentation: 岩手県民情報交流センター、盛岡(シンポジスト)
  • Year and Date: 2010-04-23
• [Presentation] Microarray technologies : Hightways to genomic aberrations (2010)
  • Author(s): Ghada M. H. Abdel Salam and Naomichi Matsumoto, Naomichi Matsumoto
  • Organizer: Joint Egyptian-Japanese Scientific Workshop
  • Place of Presentation: National Research Center, Cairo, Egypt
• [Presentation] Isolation of the gene responsible for a new type of Ehlers-Danlos syndrome (2010)
  • Author(s): Ghada M. H. Abdel Salam and Naomichi Matsumoto, Naomichi Matsumoto
  • Organizer: Joint Egyptian-Japanese Scientific Workshop
  • Place of Presentation: National Research Center, Cairo, Egypt
• [Presentation] Haploinsufficienty of STXBP1 causes Ohtahara syndrome (2010)
  • Author(s): Ghada M. H. Abdel Salam and Naomichi Matsumoto, Naomichi Matsumoto
  • Organizer: Joint Egyptian-Japanese Scientific Workshop
  • Place of Presentation: National Research Center, Cairo, Egypt
• [Presentation] De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation. (2010)
  • Author(s): Matsumoto N, others
  • Organizer: European Human Genetic Conference 2010
  • Place of Presentation: Gothenburg, Sweden
• [Presentation] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern(oral presentation). (2009)
  • Author(s): Naomichi Matsumoto
  • Organizer: The international symposium in the 9^<th> Annual Meeting of the East Asian Union of Human Genetic Society
  • Place of Presentation: Soel, Korea
  • Year and Date: 2009-11-19
• [Presentation] STXBP1 mutations in severe infantile epilepsies with suppression-burst pattern (2009)
  • Author(s): 松本直通
  • Organizer: The international symposium in the 9^<th> Annual Meeting of the East Asian Union of Human Genetic Society
  • Place of Presentation: ソウル・韓国
  • Year and Date: 2009-11-19
• [Presentation] Asin Cytogenetics Community Workshop(by Affymetrix Inc.) Naomichi Matsumoto (2009)
  • Author(s): Naomichi Matsumoto
  • Organizer: Evaluation of AffymetrixR Cytogenetics Whole-Genome Array Using Clinical Sample
  • Place of Presentation: Honolulu, Hawaii, HI
  • Year and Date: 2009-10-24
• [Presentation] Evaluation of Affymetrix^<(R)> Cytogenetics Whole-Genome Array Using Clinical Sample (2009)
  • Author(s): 松本直通
  • Organizer: Asin Cytogeentics Community Workshop(by Affymetrix Inc.)
  • Place of Presentation: ホノルル・ハワイ
  • Year and Date: 2009-10-24
• [Presentation] 年齢依存性てんかん性脳症の最近の話題 (2009)
  • Author(s): 松本直通
  • Organizer: 第51回日本小児神経学会関東地方会
  • Place of Presentation: 横浜市開港記念会館・横浜
  • Year and Date: 2009-09-19
• [Presentation] 疾患ゲノム解析の新戦略 (2009)
  • Author(s): 松本直通
  • Organizer: 第44回日本小児腎臓病学会学術集会
  • Place of Presentation: -橋記念講堂・東京
  • Year and Date: 2009-06-26
• [Presentation] De novo mutations in STXBP1 cause early infantile epileptic encephalopathy (2009)
  • Author(s): Matsumoto N, Saitsu H
  • Organizer: European Human Genetics Conference 2009
  • Place of Presentation: オーストリア・ウィーン
• [Presentation] 年齢依存性てんかんの最近の話題(招聘講演)
  • Author(s): 松本直通
  • Organizer: 第44回遺伝医学研究会(東京女子医科大学)
  • Place of Presentation: 東京女子医科大学・早稲田大学連携生命科学研究教育施設
• [Presentation] 疾患ゲノム解析の新戦略(特別講演)
  • Author(s): 松本直通
  • Organizer: 第44回日本小児腎臓病学会学術集会
  • Place of Presentation: 一橋記念講堂・東京
• [Presentation] 年齢依存性てんかん性脳症の最近の話題(特別講演)
  • Author(s): 松本直通
  • Organizer: 第51回日本小児神経学会関東地方会
  • Place of Presentation: 横浜市開港記念会館
• [Presentation] 先天性疾患における最近の進歩:病態解明から遺伝子診断へ
  • Author(s): 松本直通
  • Organizer: 第113回日本小児科学会学術集会
  • Place of Presentation: 岩手県民情報交流センター、盛岡
• [Presentation] Identification of two epilepsy-related genes from a 2.25-Mb deletion in one patient
  • Author(s): Naomichi Matsumoto
  • Organizer: The 4^<th> Asian Chromosome Colloquium
  • Place of Presentation: Beijing, China
• [Presentation] 疾患ゲノム解析:遺伝性疾患のエクソーム解析(次世代シーケンサーを用いたヒト(疾患)ゲノム解析の現状セッション・シンポジスト・座長)
  • Author(s): 松本直通
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮
• [Presentation] Identification of two genes responsible for age-dependent epileptic encephalopathy
  • Author(s): Naomichi Matsumoto
  • Organizer: 第22回NIH金曜会
  • Place of Presentation: National Institute of Health, Bethesda
• [Presentation] 次世代シーケンサーを用いた疾患ゲノム解析の現状
  • Organizer: 第18回遺伝性疾患に関する出生前診断研究会
  • Place of Presentation: 佐賀大学医学部・佐賀
• [Presentation] ヒト遺伝性疾患の原因解明を目指して
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ
• [Presentation] 次世代シーケンサーを用いたヒト疾患ゲノム解析法
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2011_8.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2011_10.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/saitsu2011_12.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2012_03.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2012_0319.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2011_8.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2011_10.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/saitsu2011_12.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2012_03.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/matsumoto2012_0319.html
• [Remarks]
  • URL: http://www.yokohama-cu.ac.jp/amedrc/res/saitsu_1012.html
• [Patent(Industrial Property Rights)] コフィンーシリス症候群の検出方法 (2012)
  • Inventor(s): 松本直通・鶴崎美徳・三宅紀子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2012-000136
  • Filing Date: 2012-01-04
• [Patent(Industrial Property Rights)] び慢性大脳白質形成不全症の検出方法 (2011)
  • Inventor(s): 才津浩智/松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Filing Date: 2011-10-14
• [Patent(Industrial Property Rights)] 常染色体劣性遺伝性脊髄小脳変性症の検出方法 (2011)
  • Inventor(s): 松本直通・土井宏
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2011-136277
  • Filing Date: 2011-06-20
• [Patent(Industrial Property Rights)] RNF213遺伝子多型による重症型もやもや病の予測方法 (2011)
  • Inventor(s): 松本直通・宮武聡子
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2011-175013
  • Filing Date: 2011-08-10
• [Patent(Industrial Property Rights)] び慢性大脳白質形成不全症の検出方法 (2011)
  • Inventor(s): 才津浩智・松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2011-226488
  • Filing Date: 2011-10-14
• [Patent(Industrial Property Rights)] 孔脳症および周産期脳出血の検出方法 (2011)
  • Inventor(s): 才津浩智・松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2011-247457
  • Filing Date: 2011-11-11
• [Patent(Industrial Property Rights)] マルファン症候群診断用プローブ、及び当該プローブを用いたスクリーニング法 (2011)
  • Inventor(s): 新川詔夫/松本直通/キャサリン/ボイリュー/グエナー/レビラウド/グラーム/ジョンドウ
  • Industrial Property Rights Holder: 長崎大学/フランスINSERM
  • Acquisition Date: 2011-03-25
• [Patent(Industrial Property Rights)] Waardenburg無眼球症候群の検出方法 (2010)
  • Inventor(s): 松本直通
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2010-106974
  • Filing Date: 2010-05-07
• [Patent(Industrial Property Rights)] 欧州特許1767653号 (2010)
  • Inventor(s): 新川詔夫/松本直通/キャサリン/ボイリュー/グエナー/レビラウド/グラーム/ジョンドウ
  • Industrial Property Rights Holder: 長崎大学/フランスINSERM
  • Acquisition Date: 2010-08-25
  • Overseas
• [Patent(Industrial Property Rights)] 大脳白質異常を伴う点頭てんかんの検出方法 (2009)
  • Inventor(s): 松本直通/才津浩智
  • Industrial Property Rights Holder: 横浜市立大学
  • Industrial Property Number: 2009-146055
  • Acquisition Date: 2009-06-19