大量並行シーケンスによるゲノムアッセイ

• Project Area: Integral 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 Type: Single-year Grants
• Research Institution: Yokohama City University
• Principal Investigator: 松本 直通 横浜市立大学, 医学研究科, 教授 (80325638)
• 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: Granted(Fiscal Year 2016)
• Budget Amount: ¥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: ゲノム / 発現制御 / 次世代シーケンス / BAF複合体 / 転写調節 / コピー数異常 / 遺伝子変異

Outline of Annual Research Achievements

次世代シーケンサー（NGS）を効率的に用いて転写サイクルの解明に資するゲノムアッセイを行うことを目的に研究を進めている。平成27年度は、前年度に引き続き班内連携によりIon Protonの稼働率の向上に努めた。転写サイクル異常に関わる疾患として解明を進めているCoffin-Siris症候群はBAF複合体の5つのサブユニットをコードする遺伝子とBAF複合体の下流に位置する転写因子SOX11の点変異で惹起されることを本研究班で解明した。興味深いことにこの6つの遺伝子の中でARID1Bのみ欠失やtruncation変異を認める以外は、他の5つの遺伝子ではいずれも基本ミスセンス変異である。平成27年度は、これらの遺伝子異常のコピー数解析を進め、現時点でCoffin-Siris症例の複数例で遺伝子Aの重複を認める結果を得ている。このことはBAF複合体の各サブユニットが複合体として調和を保って微細な転写調節を行っている可能性を示唆している。

Current Status of Research Progress

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

Reason

BAF複合体のサブユニット遺伝子とSOX11等を対象にコピー数異常解析を進めCoffin-Siris症候群症例に複数の遺伝子Aの重複を同定した。このことはBAF複合体の成り立ちが各サブユニットの調和のうえで正常な機能が保たれていることを示唆している。この所見は、新しい視点を提供したと考える。

Strategy for Future Research Activity

次世代シーケンサーを用いた技術開発とともにCoffin-Siris症候群の遺伝学的検索を通じてBAF複合体の遺伝子調節についてのメカニズムの解明に迫る研究を展開する。その他で様々な転写サイクルの異常を有する疾患を掘り起こし。機能面での解析を進めていく。

Research Products

• [Journal Article] Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). (2016)
  • Author(s): Klionsky DJ, et al., Matsumoto N, et al..
  • Journal Title: Autophagy. Volume : 12(1) Pages : 1-222
  • DOI: 10.1080/15548627.2015.1100356
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] FDG-PET study of patients with Leigh syndrome. (2016)
  • Author(s): Haginoya K*, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake 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
  • Peer Reviewed / Open Access / 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, Hitoshi Osaka H, Matsumoto N.
  • Journal Title: Epilepsia Volume : 57(1) Pages : e18-e23
  • DOI: 10.1111/epi.13257.
  • Peer Reviewed / Open Access / 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 N, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N*, Matsumoto N* (*: co-correspondence).
  • Journal Title: Hum Genet Volume : 135(1) Pages : 61-68
  • DOI: 10.1007/s00439-015-1611-0.
  • Peer Reviewed / Open Access / 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, Awadu M, Miyake N, Kosho T*.
  • Journal Title: Am J Med Genet Part A Volume : 167(3) Pages : 592-601
  • DOI: 10.1002/ajmg.a.36942.
  • 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: J Med Genet Part A Volume : 167(7) Pages : 1593-1596
  • DOI: 10.1002/ajmg.a.36775.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in the SGCE gene. (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(2) Pages : 324-326
  • DOI: doi: 10.1111/ped.12613
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. (2015)
  • Author(s): Okubo M#, Fujita A# (# denotes equal contribution), 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 Part A Volume : 167(5) Pages : 1100-1106
  • DOI: 10.1002/ajmg.a.36881
  • 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* (*: co-corresponding).
  • Journal Title: J Hum Genet 60(2) Volume : 60(2) Pages : 97-101
  • DOI: 10.1038/jhg.2014.103.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A Japanese girl with a severe form of 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, Okabe T, Aida N, Tsurusaki Y, Saitsu H, Matsumoto N, Osaka H.
  • Journal Title: Brain Dev Volume : 37(6) Pages : 638-642
  • DOI: 10.1016/j.braindev.2014.10.002.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Detecting copy number variations in whole exome sequencing data using the eXome Hidden Markov Model: an “exome-first” approach. (2015)
  • Author(s): Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Nukui M, Araki A, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, *Matsumoto N.
  • Journal Title: J Hum Genet Volume : 60(4) Pages : 175-182
  • DOI: 10.1038/jhg.2014.124.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] SPTAN1 encephalopathy: distinct phenotypes and genotypes. (2015)
  • 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.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, hyperkinetic and stereotyped movement disorders. (2015)
  • Author(s): Ohba C, Takahashi N, Kato M, Osaka H, Takashi Shiihara T, Tohyama J, Nabatame S, Azuma J, MD, Fujii Y, MD, Hara M, Tsurusawa R, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, *Saitsu H, *Matsumoto N (*: co-correspondence).
  • Journal Title: Epilepsia Volume : 56(6) Pages : 841-848
  • DOI: 10.1111/epi.12987.
  • 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.
  • 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 mutation. (2015)
  • Author(s): Kunii M, Doi H, Higashiyama Y, Kugimoto C, Ueda N, Hirata J, Tomita-Katsumoto A, Kashikura-Kojima M, Kubota S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F*.
  • Journal Title: J Hum Genet. Volume : 60(4) Pages : 187-191
  • DOI: 10.1038/jhg.2015.7.
  • 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, Tsurusaki Y, Nakashima M, Saitsu H, *Miyake N, *Matsumoto N (*: co-corrresponding).
  • Journal Title: J Hum Genet Volume : 60(5) Pages : 277-279
  • DOI: 10.1038/jhg.2015.13.
  • 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 Family. (2015)
  • 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) Pages : e0128227
  • DOI: 10.1371/journal.pone.0128227.
  • 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+ channel. (2015)
  • 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 : 637-648
  • DOI: 10.1093/hmg/ddu477.
  • 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(7) Pages : 797-805
  • DOI: 10.1001/jamaneurol.2015.0610.
  • Peer Reviewed / Open Access / 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* (*: co-correspondence).
  • Journal Title: Human Genome Variation 2 Volume : 該当なし Pages : 15024
  • DOI: 10.1038/hgv.2015.24
  • Peer Reviewed / Open Access / 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#*. (*: co-correspondence) (# denotes equal contribution).
  • Journal Title: Hum Mut Volume : 36(2) Pages : 191-195
  • DOI: 10.1002/humu.22731.
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7) (#: correspondence). (2015)
  • Author(s): Yahikozawa H, #Yoshida K, Sato S, Hanyu N, Doi H, 4, Miyatake S, Matsumoto N.
  • Journal Title: Human Genome Variation 2 Volume : 該当なし Pages : 15012
  • DOI: 10.1038/hgv.2015.12.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Somatic Mutations in the MTOR Gene Cause Focal Cortical Dysplasia Type IIb. (2015)
  • Author(s): Nakashima M, Saitsu H, Tohyama J, Kato M, Shiina M, Takei N, Kitaura H, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Takebayashi H, Ogata K, Kameyama S, Kakita A, *Matsumoto N.
  • Journal Title: Ann Neurol Volume : 78(3) Pages : 375-386
  • DOI: 10.1002/ana.24444.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome (2015)
  • Author(s): Imagawa E#, Fukai R#, Behnam M#, Goyal M# (#: equally contributed), Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, *Miyake N, *Matsumoto N (*: co-correspondence).
  • Journal Title: Human Genome Variation 2 Volume : 該当なし Pages : 15034
  • DOI: 10.1038/hgv.2015.34
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Electroclinical features of epileptic encephalopathy caused by SCN8A mutation. (2015)
  • 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.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] DNA methylation and gene expression dynamics during spermatogonial stem cell differentiation in the early postnatal 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, Sasak H*.
  • Journal Title: Genomics Volume : 16(1) Pages : 624
  • DOI: 10.1186/s12864-015-1833-5
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. (2015)
  • 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 Part A Volume : 167(10) Pages : 2418-2424
  • DOI: 10.1002/ajmg.a.37185.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Biallelic mutations in NUP107 encoding a nuclear pore complex subunit cause early childhood onset steroid-Resistance nephrotic syndrome. (2015)
  • Author(s): Miyake N#, Tsukaguchi Y#, (# denotes equal contribution) Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Imamura S, Yamashita M, Fijita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Imamoto N, Ryo A, Ogata K, Iijima K, *Matsumoto N (*: corresponding).
  • Journal Title: Am J Hum Genet Volume : 97(4) Pages : 555-566
  • DOI: 10.1016/j.ajhg.2015.08.013.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Identification of HOXD4 Mutations in Spinal Extradural Arachnoid Cyst. (2015)
  • 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) Pages : e0142126
  • DOI: 10.1371/journal.pone.0142126.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. (2015)
  • Author(s): *Saitsu H#, *Akita T# (# denotes co-first authors, *: co-correspondence), Tohyama J, Goldberg-Stern H, Kobayashi Y, Cohen R, Kato M, Ohba C, Miyatake S, Tsurusaki Y, Nakashima M, Miyake N, Fukuda A, Matsumoto N.
  • Journal Title: Sci Rep. Volume : 5 Pages : 15199
  • DOI: 10.1038/srep15199.
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Clinical exome sequencing in neurology practice. (2014)
  • Author(s): Miyatake S,*Matsumoto N (*: correspondence).
  • Journal Title: Nat Rev Neurol Volume : 10（12） Pages : 676-8
  • 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 Pages : 4011
  • DOI: 10.1038/ncomms5011
  • Peer Reviewed
• [Journal Article] Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies, (2014)
  • Author(s): Miyatake S, Osaka H, Shiina M, Sasaki M, Takanashi J, Haginoya K, Wada T, Morimoto M, Ando N, Ikuta Y, Nakashima N, Tsurusaki Y, Miyake N, Ogata K, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Neurology Volume : 82(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 (*: co-first authors, #: co-corespondence), 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 : 1587-96
  • 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） Pages : 396-8
  • DOI: 10.1111/cge.12188.
  • Peer Reviewed
• [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 (*: co-correspondence).
  • Journal Title: Neurogenet Volume : 15（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, MD, 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, MD, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki T, Miyake N, Tanaka F, *Matsumoto N, *Saitsu H (*: co-correspondence).
  • Journal Title: Epilepsia Volume : 55（7） Pages : 994-1000
  • DOI: 10.1111/epi.12668.
  • Peer Reviewed / Acknowledgement Compliant
• [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, (# denotes equal contribution) Iijima Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Tanaka F, Ozono K, Saitsu H*, Matsumoto N* (*: co-corresponding).
  • Journal Title: J Hum Genet Volume : 59（5） Pages : 292-5
  • 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 (# denotes equal contribution), 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 : 642-7
  • 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） 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 (*: corresponding author), Tsurusaki Y, Matsumoto N.
  • Journal Title: Am J Med Genet Part C Volume : 166c（3） Pages : 257-61
  • DOI: 10.1002/ajmg.c.31406.
  • 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 (*: corresponding author), Takano K, Osaka H, Aida N, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet Volume : 59（8） Pages : 471-4
  • 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 9(9) Volume : 9（9） Pages : e108721
  • DOI: 10.1371/journal.pone.0108721.
  • Peer Reviewed / Open Access
• [Journal Article] Whole exome sequencing revealed causative biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss. (2014)
  • Author(s): Tsurusaki Y, Yonezawa R, Furuya M, Nishimura G, Pooh RK, Nakashima M, Saitsu H, Miyake N, Saito S, *Matsumoto N.
  • Journal Title: Clin Genet Volume : 85（6） Pages : 592-4
  • DOI: 10.1111/cge.12215.
  • Peer Reviewed / Acknowledgement Compliant
• [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） Pages : 548-54
  • 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# (#: co-corresponding).
  • Journal Title: Clin Genet Volume : 87(4) Pages : 356-61
  • 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） Pages : 637-48
  • DOI: 10.1093/hmg/ddu477.
  • Peer Reviewed
• [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, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, *Yoshida K.
  • Journal Title: Sci Rep Volume : 24（4） Pages : 7132
  • DOI: 10.1038/srep07132.
  • 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, (*: corresponding author), 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 : 395-7
  • DOI: 10.1111/cge.12455.
  • 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 Part A Volume : 164 Pages : 231-236
  • DOI: 10.1002/ajmg.a.36228.
  • Peer Reviewed
• [Journal Article] Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations. (2014)
  • Author(s): *Takanashi JI, Osaka H, Saitsu H, Sasaki M, Mori H, Shibayama H, Tanaka M, Nomura Y, Terao Y, Inoue K, Matsumoto N, Barkovich JA.
  • Journal Title: Brain Dev Volume : 36 Pages : 259-263
  • DOI: 10.1016/j.braindev.2013.03.006
  • 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
  • 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.
  • Peer Reviewed
• [Journal Article] A hemizygous GYG2 mutation causes Leigh syndrome. (2014)
  • Author(s): Imagawa E, Osaka H, Yamashita A, Shiina M, Takahashi E・Hideo Sugie H, Nakashima M, Tsurusaki Y, Saitsu H, Ogata K, Matsumoto N, Miyake N.
  • Journal Title: Hum Genet Volume : 133 Pages : 225-234
  • DOI: 10.1007/s00439-013-1372-6
  • Peer Reviewed
• [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 (*: corresponding).
  • Journal Title: Hum Mut Volume : 34 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# (# denotes equal contribution), 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 (*: co-corresponding).
  • Journal Title: Nat Genet Volume : 45 Pages : 445-449
  • DOI: 10.1038/ng.2562
  • Peer Reviewed
• [Journal Article] Essential role of the IRF8-KLF4 transcription factor cascade in the monocyte differentiation program. (2013)
  • Author(s): Kurotaki D, Osato N, Nishiyama A, Yamamoto M, Sato H, Nakabayashi J, Ban T, Miyake N, Matsumoto N, Nakazawa M, Ozato K, *Tamura T.
  • Journal Title: Blood Volume : 121 Pages : 1839-1849
  • DOI: 10.1182/blood-2012-06-437863
  • Peer Reviewed
• [Journal Article] Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (2013)
  • Author(s): Nakajima M,# Mizumoto S,# Miyake N,# (# denotes equal contribution) et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume : 92 Pages : 927-934
  • DOI: 10.1038/ng.2562
  • 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 Y, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma T, Beckmann JS, Ikegawa I, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
  • Journal Title: Proc Natl Acad Sci USA Volume : 110 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#, Miyatake S# (# denotes the first authors with equal contribution), et al., Miyake N, et al., *Matsumoto N§, *Laing NG§ (§ denotes equal contribution as the last author)
  • Journal Title: Am J Hum Genet Volume : 93 Pages : 6-18
  • DOI: 10.1016/j.ajhg.2013.05.004.
  • Peer Reviewed
• [Journal Article] MLL2 and KDM6A mutations and their clinical consequences in Kabuki syndrome. (2013)
  • Author(s): *Miyake N, et al., *Matsumoto N, Niikawa N.
  • Journal Title: Am J Med Genet Part A Volume : 161 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, #Kodera H, #Akita T (# denotes equal contribution), et al., Miyake N, et al., *Matsumoto N, *Saitsu H (* denotes co-correspondence)
  • Journal Title: Am J Hum Genet Volume : 93 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 VA, et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume : 93 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 Pages : 1073-1077
  • DOI: 10.1002/ajmg.a.35661.
  • Peer Reviewed
• [Journal Article] A novel homozygous SCARB2 mutation causes late-onset progressive myoclonus epilepsy without renal failure. (2013)
  • Author(s): Higashiyama Y, *Doi H, Wakabayashi M, Tsurusaki Y, Miyake N, Saitsu H, Ohba C, Fukai R, Miyatake S, Koyano S, Suzuki Y, Kuroiwa Y, Matsumoto N.
  • Journal Title: Mov disord Volume : 28 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 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.
  • 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 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 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 Pages : 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 Pages : 2576-2581
  • DOI: 10.1002/ajmg.a.36083.
  • Peer Reviewed
• [Journal Article] Clinical consequences 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, et al., Miyake N, *Matsumoto N (*: co-corresponding).
  • Journal Title: Am J Med Genet Part A Volume : 161 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, Nobuhiko 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.
  • 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
  • Peer Reviewed
• [Journal Article] Y-Chromosome-linked B- and NK-cell deficiency in mice. (2013)
  • Author(s): Sun S-L, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Ryo Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N*.
  • Journal Title: J Immunol Volume : 190 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 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# (# denotes equal contribution), Osaka H, Maegaki Y,Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Mitsuko Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, *Matsumoto N, *Saitsu H (*: co-corresponding).
  • Journal Title: Hum Mut Volume : 34 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 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 Pages : 822-824
  • DOI: 10.1038/jhg.2013.104.
  • Peer Reviewed
• [Journal Article] Clinical spectrum of early-onset epileptic encephalopathies caused by KCNQ2 mutations. (2013)
  • Author(s): *Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weise S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kadera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, *Saitsu H.
  • Journal Title: Epilepsia Volume : 54 Pages : 1282-1287
  • DOI: 10.1111/epi.12200
  • Peer Reviewed
• [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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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 – 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 – 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 – 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 – 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 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 – 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 Congrès, 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
  • 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
  • Industrial Property Number: PCT/JP2014/065217
  • Filing Date: 2014-06-09
  • Application Year: 2014
• [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
  • Industrial Property Number: 2013-552406
  • Filing Date: 2014-07-14
  • Application Year: 2014
• [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
  • Industrial Property Number: 14/357,373
  • Filing Date: 2014-05-09
  • Application Year: 2014
  • 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
  • Industrial Property Number: PCT/JP2013/71620
  • Filing Date: 2014-02-07
  • Application Year: 2014
• [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: 特願2013-252720
  • Filing Date: 2013-12-06
  • Application Year: 2013
• [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: 特願2013-157339
  • Filing Date: 2013-07-31
  • Application Year: 2013
• [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: 特願2013-123660
  • Filing Date: 2013-06-12
  • Application Year: 2013