Analysis of chromosomal structural abnormalities by next generation sequencing

• Project/Area Number: 24249019
• 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(系)研究科(研究院), 教授 (80325638)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥46,410,000 (Direct Cost: ¥35,700,000、Indirect Cost: ¥10,710,000); Fiscal Year 2014: ¥12,090,000 (Direct Cost: ¥9,300,000、Indirect Cost: ¥2,790,000); Fiscal Year 2013: ¥11,960,000 (Direct Cost: ¥9,200,000、Indirect Cost: ¥2,760,000); Fiscal Year 2012: ¥22,360,000 (Direct Cost: ¥17,200,000、Indirect Cost: ¥5,160,000)
• Keywords: 次世代シーケンス / 染色体構造異常 / 全ゲノムシーケンス / 塩基配列決定 / 次世代シーケンサー / 切断点解析 / CNV / 情報解析

Outline of Final Research Achievements

Shallow (<20x) whole genome sequencing by next generation sequencing was used to evaluate whether this technique is useful for detecting breakpoints of chromosomal structural abnormalities (CSA). Among 10 patients with known CSA, breakpoints were determined in 15 out 18 translocations (83%) and 4 out of 4 inversions (100%) using BreakDancer and IGV. Therefore shallow whole genome sequencing is quite useful for determination of chromosomal structural variations at the nuceotide level with the knowledge of results of conventional chromosomal analyses.

Research Products

• [Journal Article] Clinical exome sequencing in neurology practice (2014)
  • Author(s): Miyatake S,Matsumoto N.
  • Journal Title: Nat Rev Neurol Volume: 10（12） Issue: 12 Pages: 676-678
  • DOI: 10.1038/nrneurol.2014.213
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo SOX11 mutations cause Coffin-Siris syndrome (2014)
  • 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: Nat Commun Volume: 5 Issue: 1 Pages: 4011-4011
  • DOI: 10.1038/ncomms5011
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated (2014)
  • Author(s): Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T,
  • Journal Title: Neurology Volume: 82(24) Issue: 24 Pages: 2230-7
  • DOI: 10.1212/wnl.0000000000000535
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] PIGA mutations cause early-onset epileptic encephalopathies and distinctive features (2014)
  • 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） Issue: 18 Pages: 1587-1596
  • DOI: 10.1212/wnl.0000000000000389
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes (2014)
  • 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: Clin Genet Volume: 85（4） Issue: 4 Pages: 396-398
  • DOI: 10.1111/cge.12188
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy (2014)
  • 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: Neurogenet Volume: 15（2） Issue: 2 Pages: 85-92
  • DOI: 10.1007/s10048-013-0384-7
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Early onset epileptic encephalopathy caused by de novo SCN8A mutations (2014)
  • 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 Issue: 7 Pages: 994-1000
  • DOI: 10.1111/epi.12668
  • Peer Reviewed
• [Journal Article] De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain (2014)
  • 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） Issue: 5 Pages: 292-295
  • DOI: 10.1038/jhg.2014.18
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Deep sequencing detects very low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy (2014)
  • 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） Issue: 7 Pages: 642-647
  • DOI: 10.1016/j.nmd.2014.04.002
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 (2014)
  • Author(s): Nakashima M, Kashii H, Murakami Y, Kato M, Tsurusaki Y, Miyake N, Kubota M, Kinoshita T, Saitsu H, Matsumoto N.
  • Journal Title: Neurogenet Volume: 15（3） Issue: 3 Pages: 193-200
  • DOI: 10.1007/s10048-014-0408-y
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Numerous BAF complex genes are mutated in Coffin-Siris syndrome (2014)
  • Author(s): Miyake N, Tsurusaki Y, Matsumoto N.
  • Journal Title: Am J Med Genet Part C Volume: 166c（3） Issue: 3 Pages: 257-261
  • DOI: 10.1002/ajmg.c.31406
  • 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 loss (2014)
  • Author(s): Nakashima M, Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet Volume: 59（8） Issue: 8 Pages: 471-474
  • DOI: 10.1038/jhg.2014.51
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa (2014)
  • 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） Issue: 9 Pages: e108721-e108721
  • DOI: 10.1371/journal.pone.0108721
  • 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 Issue: 6 Pages: 592-594
  • DOI: 10.1111/cge.12215
  • Peer Reviewed
• [Journal Article] Coffin-Siris syndrome is a SWI/SNF complex disorder (2014)
  • 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） Issue: 6 Pages: 548-554
  • DOI: 10.1111/cge.12225
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy (2014)
  • 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) Issue: 4 Pages: 356-361
  • DOI: 10.1111/cge.12394
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Dominant mutations in ORAI1 cause tubular-aggregate-myopathy with hypocalcemia by constitutive activation of store-operated Ca2+ channel (2014)
  • 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 Volume: 24（3） Issue: 3 Pages: 637-648
  • DOI: 10.1093/hmg/ddu477
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation (2014)
  • 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 Issue: 1 Pages: 7132-7132
  • DOI: 10.1038/srep07132
  • NAID: 120007100602
  • Peer Reviewed / Open Access
• [Journal Article] Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy (2014)
  • 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） Issue: 4 Pages: 395-397
  • DOI: 10.1111/cge.12455
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. (2014)
  • 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 Mutat Volume: 36（2） Issue: 2 Pages: 191-5
  • DOI: 10.1002/humu.22731
  • Peer Reviewed / Open Access
• [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 Part A Volume: 164 Issue: 1 Pages: 231-236
  • DOI: 10.1002/ajmg.a.36228
  • 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 Issue: 3 Pages: 272-273
  • DOI: 10.1016/j.braindev.2013.03.007
  • 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 Issue: 3 Pages: 419-424
  • DOI: 10.1007/s00381-013-2338-7
  • 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 Issue: 2 Pages: 225-34
  • DOI: 10.1007/s00439-013-1372-6
  • Peer Reviewed / Open Access
• [Journal Article] Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation (2013)
  • 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 Mut Volume: 34(3):446-452 Issue: 3 Pages: 446-452
  • DOI: 10.1002/humu.22257
  • Peer Reviewed
• [Journal Article] De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood (2013)
  • 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 Issue: 4 Pages: 445-449
  • DOI: 10.1038/ng.2562
  • 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 Issue: 10 Pages: 1839-1849
  • DOI: 10.1182/blood-2012-06-437863
  • Peer Reviewed
• [Journal Article] Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene (2013)
  • 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 Issue: 40 Pages: 16139-16144
  • DOI: 10.1073/pnas.1308243110
  • Peer Reviewed
• [Journal Article] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy (2013)
  • Author(s): Ravenscroft G, Ogata K, Shiina M, Matsumoto N, Laing NG et al.
  • Journal Title: Am J Hum Genet Volume: 93 Issue: 1 Pages: 6-18
  • DOI: 10.1016/j.ajhg.2013.05.004
  • 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: Am J Med Genet A Volume: 161 Issue: 9 Pages: 2234-2243
  • DOI: 10.1002/ajmg.a.36072
  • 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 Issue: 3 Pages: 496-505
  • DOI: 10.1016/j.ajhg.2013.07.014
  • Peer Reviewed
• [Journal Article] Identification of KLHL41 mutations implicates BTB-Kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy (2013)
  • Author(s): Gupta V, Shiina M, Ogata K, Matsumoto N, Beggs N et al.
  • Journal Title: Am J Hum Genet Volume: 93 Issue: 6 Pages: 1108-1117
  • DOI: 10.1016/j.ajhg.2013.10.020
  • 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 Part A Volume: 161A Issue: 5 Pages: 1073-1077
  • DOI: 10.1002/ajmg.a.35661
  • Peer Reviewed
• [Journal Article] A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy (2013)
  • 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 Issue: 4 Pages: 552-553
  • DOI: 10.1002/mds.25296
  • 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 Part A Volume: 161A Issue: 7 Pages: 1543-1546
  • DOI: 10.1002/ajmg.a.35983
  • 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.p
  • Journal Title: Mol Vis Volume: 19 Pages: 384-389
  • 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 Issue: 9 Pages: 2291-2293
  • DOI: 10.1002/ajmg.a.35861
  • 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 Issue: 11 Pages: 992-998
  • DOI: 10.1212/wnl.0b013e3182a43e57
  • 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 Issue: 9 Pages: e74167-e74167
  • DOI: 10.1371/journal.pone.0074167
  • 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 Part A Volume: 161 Issue: 10 Pages: 2576-2581
  • DOI: 10.1002/ajmg.a.36083
  • 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 literature (2013)
  • Author(s): Kosho T, Okamoto N, Ohashi H, Yamagata T, Matsumoto N (27人中11番目)
  • Journal Title: Am J Med Genet A Volume: 161 Issue: 6 Pages: 1221-1237
  • DOI: 10.1002/ajmg.a.35933
  • Peer Reviewed
• [Journal Article] Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia (2013)
  • 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 Issue: 6 Pages: 391-394
  • DOI: 10.1038/jhg.2013.25
  • NAID: 10031184228
  • 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 Issue: 7 Pages: 1262-1269
  • DOI: 10.1111/epi.12203
  • Peer Reviewed
• [Journal Article] Y-chromosome-linked B- and NK-cell deficiency in mice (2013)
  • 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 Issue: 12 Pages: 6209-6220
  • DOI: 10.4049/jimmunol.1300303
  • 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
  • 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 Part A Volume: 161 Issue: 8 Pages: 1904-1909
  • DOI: 10.1002/ajmg.a.36026
  • Peer Reviewed
• [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy (2013)
  • 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 Issue: 12 Pages: 1708-1714
  • DOI: 10.1002/humu.22446
  • 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: Neurogenet Volume: 14 Issue: 3-4 Pages: 225-232
  • DOI: 10.1007/s10048-013-0375-8
  • 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 Issue: 12 Pages: 822-824
  • DOI: 10.1038/jhg.2013.104
  • Peer Reviewed
• [Journal Article] Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation (2013)
  • Author(s): Kato M, …Saitsu H.
  • Journal Title: Epilepsia Volume: in press Issue: 7 Pages: 1282-7
  • DOI: 10.1111/epi.12200
  • Peer Reviewed
• [Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. (2013)
  • Author(s): 98. Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M,
  • Journal Title: Brain Dev. Volume: May 3 Issue: 3 Pages: 259-263
  • DOI: 10.1016/j.braindev.2013.03.006
  • 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 Issue: 12 Pages: 804-806
  • DOI: 10.1038/jhg.2012.105
  • Peer Reviewed
• [Journal Article] Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome (2012)
  • Author(s): *Saitsu H et al.
  • Journal Title: Ann Neurol Volume: 72(2):298-300 Issue: 2 Pages: 298-300
  • DOI: 10.1002/ana.23620
  • 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) Issue: 1-2 Pages: 102-5
  • DOI: 10.1016/j.jns.2012.07.005
  • 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: Neurogenetics. Volume: 13 Issue: 4 Pages: 327-332
  • DOI: 10.1007/s10048-012-0337-6
  • Peer Reviewed
• [Journal Article] PAPSS2 mutations cause autosomal recessive brachyolmia (2012)
  • 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 Issue: 8 Pages: 533-538
  • DOI: 10.1136/jmedgenet-2012-101039
  • Peer Reviewed
• [Journal Article] CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia (2012)
  • Author(s): Saitsu H
  • Journal Title: Epilepsia Volume: 53 Pages: 1441-1449
  • Peer Reviewed
• [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (2012)
  • 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 Issue: 4 Pages: 376-378
  • DOI: 10.1038/ng.2219
  • Peer Reviewed
• [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
• [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
  • 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
  • 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
• [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・松本直通・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
• [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
  • 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
• [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
• [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
• [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
  • 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
  • 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
• [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
• [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
• [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
• [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
• [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
• [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
• [Presentation] Next generation sequencing dissecting human genetic diseases (2014)
  • 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
• [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
• [Presentation] Mendelian Exome Analysis
  • Author(s): Naomichi Matsumoto
  • Organizer: The 10th International Workshop on Advanced Genomics
  • Place of Presentation: National Center of Sciences, Tokyo
  • 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
• [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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
• [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・東京都
  • Invited
• [Presentation] Exome analysis in mendelian disorders
  • Author(s): Naomichi Matsumoto
  • Organizer: 2012 Illumina Asica Pcific Scientific Summit
  • Place of Presentation: Sheraton Mirage Resort & Spa Gold Coast, Gold Coast, Austraria
  • Invited
• [Presentation] 小児神経疾患における遺伝子研究の新潮流
  • Author(s): 松本直通
  • Organizer: 第5回みやこ小児神経臨床懇話会
  • Place of Presentation: メルパルク京都・京都
  • Invited
• [Presentation] 遺伝性疾患のエクソーム解析
  • Author(s): 松本直通
  • Organizer: 2012 イルミナ次世代シーケンサーユーザーフォーラム
  • Place of Presentation: 東京国際フォーラム・東京
  • Invited
• [Presentation] Genetic abnormalities in Coffin-Siris syndrome
  • Author(s): Naomichi Matsumoto
  • Organizer: European Human Genetics Conference 2012
  • Place of Presentation: Nuremberg Conference Center, Nuremberg, Germany
• [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
  • 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
  • Invited
• [Presentation] Exome sequencing in mendelian disorders.
  • Author(s): Naomichi Matsumoto
  • Organizer: Translational Genomics Conference 2012
  • Place of Presentation: Hyatt Reagency Jeju, Jeju, Korea
  • Invited
• [Presentation] 遺伝性疾患のエクソーム解析
  • 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
  • Invited
• [Presentation] 遺伝性疾患の効率的な次世代シーケンス解析
  • 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
  • Invited
• [Presentation] Isolation of genes causative for genetic diseases by next generation sequencer
  • 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
  • Invited
• [Presentation] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
  • Author(s): Matsumoto N
  • Organizer: American Society of Human Genetics Meeting2012
  • Place of Presentation: Moscone Center, San Francisco, CA, USA
• [Presentation] Medelian exome
  • 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
  • Invited
• [Presentation] エクソーム解析
  • 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
  • Invited
• [Presentation] 発達障害におけるゲノム解析：次世代技術を用いて
  • 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
  • Invited
• [Presentation] 遺伝性疾患のエクソーム解析
  • 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
  • Invited
• [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
• [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
• [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
  • 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
• [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
• [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
• [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
• [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