Gene identification using the efficient massive parallel sequencing and elucidation of the pathomechanism of the intractable diseases

• Project/Area Number: 25293235
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Yokohama City University
• Principal Investigator: MIYAKE Noriko 横浜市立大学, 医学部, 准教授 (40523494)
• Research Collaborator: OKAMOTO Nobuhiko ; MIZUNO Seiji ; HIRAKI Yoko ; TSUKAGUCHI Hiroyasu ; KOSHIMIZU Eriko ; IMAGAWA Eri ; FUJITA Atsushi
• Project Period (FY): 2013-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥18,460,000 (Direct Cost: ¥14,200,000、Indirect Cost: ¥4,260,000); Fiscal Year 2015: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2014: ¥6,240,000 (Direct Cost: ¥4,800,000、Indirect Cost: ¥1,440,000); Fiscal Year 2013: ¥6,890,000 (Direct Cost: ¥5,300,000、Indirect Cost: ¥1,590,000)
• Keywords: 単一遺伝性疾患 / エクソーム解析 / ステロイド抵抗性ネフローゼ症候群 / NUP107 / 低頻度体細胞モザイク / TSC2 / 次世代シークエンサー / 肺リンパ脈管筋腫症 / 体細胞変異 / 全ゲノムシークエンス / ターゲットシークエンス / 全エクソームシークエンス / 連鎖解析 / 体細胞変異検出

Outline of Final Research Achievements

In this study, we analyzed the patients with Aicardi syndrome, Galloway-Mowat syndrome, steroid-resistant nephrotic syndrome, pulmonary lymphangioleiomyomatosis (pLAM), hypermobility type Ehlers-Danlos syndrome by whole exome sequence. Among them, we successfully identified the novel disease gene, nucleoporin 107kDa (NUP107), which is responsible for early-childhood onset steroid resistant nephrotic syndrome. In addition, we performed targeted ultra-deep sequencing for the TSC1/TSC2 genes in sporadic pLAM patients and identified somatic mosaic TSC2 mutation in six out of nine patients. This result indicated that low prevalence somatic TSC2 mutation could be associated with sporadic pLAM.

Research Products

• [Int'l Joint Research] Medical Genetics Center of Genome/Tarbiat Modares University/Isfahan University of Medical Sciences(イラン)
• [Int'l Joint Research] National Research Centre/Cairo University(エジプト)
• [Int'l Joint Research] Austin Health/Murdoch Children's Research Institute/Royal Children's Hospital(オーストラリア)
• [Int'l Joint Research] Seoul National Universitｙ(韓国)
• [Int'l Joint Research] Tel Aviv University/Hadassah-Hebrew University(イスラエル)
• [Int'l Joint Research]
• [Journal Article] Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations (2016)
  • Author(s): Zheng Wang , Aritoshi Iida , Noriko Miyake , Koji M. Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A. Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F. Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene
  • Journal Title: PloS ONE Volume: 11 Issue: 3 Pages: e0150555-e0150555
  • DOI: 10.1371/journal.pone.0150555
  • 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: Journal of the Neurological Sciences Volume: 362 Pages: 309-313
  • DOI: 10.1016/j.jns.2016.02.008
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. (2016)
  • Author(s): Wallis M, Tsurusaki Y, Burgess T, Borzi P, Matsumoto N, Miyake N, True D, Patel C.
  • Journal Title: Am J Med Genet A. Volume: 170(3) Issue: 3 Pages: 717-724
  • DOI: 10.1002/ajmg.a.37478
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing. (2016)
  • Author(s): Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N.
  • Journal Title: Hum Genet. Volume: 135(1) Issue: 1 Pages: 61-68
  • DOI: 10.1007/s00439-015-1611-0
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. (2016)
  • Author(s): Behnam M, Imagawa E, Chaleshtori AR, Ronasian F, Salehi M, Miyake N, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 61 Issue: 2 Pages: 177-179
  • DOI: 10.1038/jhg.2015.127
  • NAID: 40020742278
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. (2016)
  • Author(s): Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S.
  • Journal Title: Am J Med Genet A. Volume: 170 Issue: 2 Pages: 460-465
  • DOI: 10.1002/ajmg.a.37426
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. (2016)
  • Author(s): Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
  • Journal Title: J Neurol Neurosurg Psychiatry. Volume: 87(2) Pages: 212-216
  • DOI: 10.1136/jnnp-2014-310084
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay (2016)
  • Author(s): Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N
  • Journal Title: Eur J Hum Genet Volume: 24(1) Issue: 1 Pages: 129-134
  • DOI: 10.1038/ejhg.2015.92
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo GABRA1 mutations in Ohtahara and West syndromes (2015)
  • Author(s): ○Hirofumi Kodera, et al, Hirotomo Saitsu and Naomichi Matsumoto
  • Journal Title: Epilepsia Volume: 57 Issue: 4 Pages: 566-573
  • DOI: 10.1111/epi.13344
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo DNM1 mutations in two cases of epileptic encephalopathy. (2015)
  • Author(s): Nakashima M, Kouga T, Lourenço CM, Shiina M, Goto T, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Ogata K, Osaka H, Matsumoto N.
  • Journal Title: Epilepsia Volume: Epub 2015 Nov 27. Issue: 1
  • DOI: 10.1111/epi.13257
  • Peer Reviewed / Open Access / Int'l Joint Research / 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) Issue: 11 Pages: e0142126-e0142126
  • DOI: 10.1371/journal.pone.0142126
  • NAID: 120005763410
  • Peer Reviewed / Open Access
• [Journal Article] De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. (2015)
  • Author(s): Saitsu, H., T. Akita, J. Tohyama, H. Goldberg-Stern, Y. Kobayashi, R. Cohen, M. Kato, C. Ohba, S. Miyatake, Y. Tsurusaki, M. Nakashima, N. Miyake, A. Fukuda, and N. Matsumoto
  • Journal Title: Sci Rep Volume: 5 Issue: 1 Pages: 15199-15199
  • DOI: 10.1038/srep15199
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome (2015)
  • Author(s): Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N
  • Journal Title: Am J Hum Genet Volume: 97(4) Issue: 4 Pages: 555-566
  • DOI: 10.1016/j.ajhg.2015.08.013
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance. (2015)
  • Author(s): Ohba, C., K. Haginoya, H. Osaka, K. Kubota, A. Ishiyama, T. Hiraide, H. Komaki, M. Sasaki, S. Miyatake, M. Nakashima, Y. Tsurusaki, N. Miyake, F. Tanaka, H. Saitsu, and N. Matsumoto
  • Journal Title: J Hum Genet Volume: 60 Issue: 12 Pages: 739-42
  • DOI: 10.1038/jhg.2015.108
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] De novo KCNT1 mutations in early-onset epileptic encephalopathy. (2015)
  • Author(s): Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.
  • Journal Title: Epilepsia Volume: 56(9) Issue: 9
  • DOI: 10.1111/epi.13072
  • Peer Reviewed / Open Access
• [Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy (2015)
  • Author(s): Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
  • Journal Title: J Hum Genet Volume: 60(10) Issue: 10 Pages: 631-635
  • DOI: 10.1038/jhg.2015.72
  • Peer Reviewed / Open Access
• [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) Issue: 10 Pages: 2418-2424
  • DOI: 10.1002/ajmg.a.37185
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb (2015)
  • Author(s): Nakashima M, Saitsu H, Takei N, Tohyama J, Kato M, Kitaura H, Shiina M, Shirozu H, Masuda H, Watanabe K, Ohba C, Tsurusaki Y, Miyake N, Zheng Y, Sato T, Takebayashi H, Ogata K, Kameyama S, Kakita A, Matsumoto N
  • Journal Title: Ann. Neurol. Volume: 78 Issue: 3 Pages: 375-386
  • DOI: 10.1002/ana.24444
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder. (2015)
  • Author(s): Imai N, Miyake N, Saito Y, Kobayashi E, Ikawa M, Manaka S, Shiina M, Ogata K, Matsumoto N.
  • Journal Title: J Headache Pain. Volume: 16 Pages: 519-519
  • Peer Reviewed / Open Access
• [Journal Article] Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. (2015)
  • Author(s): Kohrogi K, Imagawa E, Muto Y, Hirai K, Migita M, Mitsubuchi H, Miyake N, Matsumoto N, Nakamura K, Endo F.
  • Journal Title: Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. Volume: 60 Issue: 7 Pages: 381-385
  • DOI: 10.1038/jhg.2015.35
  • NAID: 40020536447
  • Peer Reviewed / Open Access
• [Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. (2015)
  • Author(s): Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
  • Journal Title: Pediatr Int. Volume: 57 Issue: 2 Pages: 324-326
  • DOI: 10.1111/ped.12613
  • NAID: 120005666180
  • Peer Reviewed / Open Access
• [Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders (2015)
  • Author(s): Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, Blumkin L, Lev D, Mukaida S, Nozaki F, Uematsu M, Onuma A, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Kato M, Ogata K, Saitsu H, Matsumoto N
  • Journal Title: Epilepsia Volume: 印刷中 Issue: 6 Pages: 841-848
  • DOI: 10.1111/epi.12987
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. (2015)
  • Author(s): Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.
  • Journal Title: Clin Genet. Volume: 89(1) Issue: 1 Pages: 115-119
  • DOI: 10.1111/cge.12586
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation (2015)
  • Author(s): Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Matsumoto N, Sasaki M
  • Journal Title: Am J Med Genet Part A Volume: 167(5) Issue: 5 Pages: 1100-1106
  • DOI: 10.1002/ajmg.a.36881
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] A case of autism spectrum disorder arising from a de novo missense mutation in POGZ. (2015)
  • Author(s): Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 60(5) Issue: 5 Pages: 277-279
  • DOI: 10.1038/jhg.2015.13
  • Peer Reviewed / Open Access
• [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, Taniguchi M, Murayama K, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N, Tanaka F.
  • Journal Title: J Hum Genet Volume: 60 Issue: 4 Pages: 187-191
  • DOI: 10.1038/jhg.2015.7
  • NAID: 40020433141
  • Peer Reviewed / Open Access
• [Journal Article] Detecting copy number variations in whole exome sequencing data using exome hidden markov model - an expectation of “exome-first” approach. (2015)
  • Author(s): Miyatake S, Koshimizu E, Fujita A, Fukai R, Imagawa E, Ohba C, Kuki I, Makita Y, Ogata T, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N
  • Journal Title: J Hum Genet Volume: 1 Issue: 4 Pages: 124-124
  • DOI: 10.1038/jhg.2014.124
  • Peer Reviewed / Open Access
• [Journal Article] Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. (2015)
  • Author(s): Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N.
  • Journal Title: Hum Genome Var. Volume: 2 Issue: 1 Pages: 15034-15034
  • DOI: 10.1038/hgv.2015.34
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. (2015)
  • Author(s): Kodera H, Osaka H, Iai M, Aida N, Yamashita A, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 60(2) Issue: 2 Pages: 97-101
  • DOI: 10.1038/jhg.2014.103
  • Peer Reviewed / Open Access
• [Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation (2015)
  • Author(s): 17.Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
  • Journal Title: Clin Genet Volume: 87 Issue: 5 Pages: 455-460
  • DOI: 10.1111/cge.12417
  • 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, 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] 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] The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. (2014)
  • Author(s): Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitus H, Arai H, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Issue: 12 Pages: 691-3
  • DOI: 10.1038/jhg.2014.95
  • Peer Reviewed
• [Journal Article] Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. (2014)
  • Author(s): Saitsu H, Yamashita S, Tanaka Y, Tsurusaki Y, Nakashima M, Miyake N, Matsumoto N.
  • Journal Title: Journal of Human Genetics Volume: 59 Issue: 12 Pages: 687-690
  • DOI: 10.1038/jhg.2014.91
  • NAID: 40020308684
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing. (2014)
  • Author(s): Suzuki T, Tsurusaki Y, Nakashima M, Miyake N, Saitsu H, Takeda S, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 59 Issue: 12 Pages: 649-54
  • DOI: 10.1038/jhg.2014.88
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] ‘Cortical cerebellar atrophy’ dwindles away in the era of next-generation sequencing. (2014)
  • Author(s): Yoshida K, Miyatake S, Kinoshita T, Doi H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N.
  • Journal Title: Journal of Human Genetics Volume: 59 Issue: 10 Pages: 589-590
  • DOI: 10.1038/jhg.2014.75
  • Peer Reviewed / Open Access
• [Journal Article] Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series. (2014)
  • Author(s): Yasuda Y, Hashimoto R, Fukai R, Okamoto N, Hiraki Y, Yamamori H, Fujimoto M, Ohi K, Taniike M, Mohri I, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N, Takeda M.
  • Journal Title: Ann Gen Psychiatry. Volume: 13 Issue: 1 Pages: 22-26
  • DOI: 10.1186/s12991-014-0022-2
  • Peer Reviewed / Open Access
• [Journal Article] A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. (2014)
  • Author(s): Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto Y, Nishino I, Ohtake A, King MC, Matsumoto N.
  • Journal Title: J Hum Genet Volume: 59 Issue: 10 Pages: 581-3
  • DOI: 10.1038/jhg.2014.71
  • 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] Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. (2014)
  • Author(s): Kosho T, Miyake N, Carey JC.
  • Journal Title: Am J Med Genet C Semin Med Genet. Volume: 166C Issue: 3 Pages: 241-51
  • DOI: 10.1002/ajmg.c.31415
  • Peer Reviewed
• [Journal Article] Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder. (2014)
  • Author(s): Ben-Omran T, Lakhani S, Almureikhi M, Ali R, Takahashi A, Miyake N, Matsumoto N, Ikegawa S, Superti-Furga A, Unger S.
  • Journal Title: Am J Med Genet A. Volume: 164A Issue: 9 Pages: 2147-52
  • DOI: 10.1002/ajmg.a.36632
  • Peer Reviewed
• [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] Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation. (2014)
  • Author(s): Imagawa E, Kayserili H, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H,Ikegawa S, Matsumoto N, Miyake N.
  • Journal Title: Am J Med Genet A. Volume: 164A Issue: 9 Pages: 2398-402
  • DOI: 10.1002/ajmg.a.36648
  • 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] 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 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] 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] 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] 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] A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma. (2014)
  • Author(s): Fujita A, Ochi N, Fujimaki H, Muramatsu H, Takahashi Y, Natsume J, Kojima S, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
  • Journal Title: Am J Med Genet A. Volume: 164A Issue: 4 Pages: 998-1002
  • DOI: 10.1002/ajmg.a.36369
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmentaldelay. (2014)
  • Author(s): Fukai R, Hiraki Y, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Matsumoto N, Miyake N.
  • Journal Title: Am J Med Genet A. Volume: 164A Issue: 4 Pages: 1021-8
  • DOI: 10.1002/ajmg.a.36377
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel homozygous YARS2 mutation causessevere myopathy, lactic acidosis, and sideroblastic anemia 2. (2014)
  • Author(s): Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H,Kawashima H, Matsumoto N, Miyake N.
  • Journal Title: J Hum Genet. Volume: 59 Issue: 4 Pages: 229-32
  • DOI: 10.1038/jhg.2013.143
  • 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] 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] 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] PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. (2014)
  • Author(s): Nakamura, K.Osaka, H.Murakami, Y.Anzai, R.Nishiyama, K.Kodera, H.Nakashima, M.Tsurusaki, Y.Miyake, N.Kinoshita, T.Matsumoto, N. and Saitsu, H
  • Journal Title: Epilepsia Volume: 55 Issue: 2 Pages: 13-17
  • DOI: 10.1111/epi.12508
  • Peer Reviewed
• [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 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] 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] 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] 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] Mutations in B3GALT6 which Encodes a Glycosaminoglycan Linker Region Enzyme Cause a Spectrum of Skeletal and Connective Tissue Disorders (2013)
  • Author(s): Masahiro Nakajima, Shuji Mizumoto et al.
  • Journal Title: American Journal of Human Genetics Volume: in press Issue: 6 Pages: 927-934
  • DOI: 10.1016/j.ajhg.2013.04.003
  • 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] 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] 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] 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] 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] Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. (2013)
  • Author(s): Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N.
  • Journal Title: Intern Med. Volume: 52 Pages: 1629-1633
  • NAID: 130003365707
  • 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] 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] 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] 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] 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] 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] 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] 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] 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
• [Presentation] Wiedemann-Steiner症候群における新規KMT2A変異と臨床症状の検討 (2015)
  • Author(s): 三宅紀子, 鶴﨑美徳, 輿水江里子,新川詔夫, 松本直通
  • Organizer: 日本人類遺伝学会第60回大会
  • Place of Presentation: 京王プラザホテル、東京
  • Year and Date: 2015-10-14
• [Presentation] Clinical and genetic analysis of Wiedemann Steiner syndrome caused by KMT2A mutations (2015)
  • Author(s): Noriko Miyake, Yoshinori Tsurusaki, Eriko Koshimizu, Norio Niikawa, Naomichi Matsumoto
  • Organizer: American Society of Human Genetics 65th Annual Meeting
  • Place of Presentation: Baltimore Convention Center, Baltimore, MD, USA
  • Year and Date: 2015-10-06
  • Int'l Joint Research
• [Presentation] Clinical and genetic analysis of Wiedemann Steiner syndrome caused by KMT2A mutations (2015)
  • Author(s): Noriko Miyake, Yoshinori Tsurusaki, Eriko Koshimizu, Nobuhiko Okamoto, Tomoki Kosho, Natasha Jane Brown, Tiong Yang Tan, Patrick Jia Jiunn Yap, Hiroshi Suzumura, Toju Tanaka, Toshiro Nagai, Norio Niikawa, Naomichi Matsumoto
  • Organizer: The 11th International Workshop on Advanced Genomics
  • Place of Presentation: 一橋大学 一橋講堂 、東京
  • Year and Date: 2015-05-20
  • Int'l Joint Research
• [Presentation] 歌舞伎症候群における遺伝子変異と表現型の関連. (2014)
  • Author(s): 三宅紀子、輿水江里子、松本直通、新川詔夫.
  • 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、（東京都江戸川区）
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] Glycosaminoglycan abnormalities in human bone and connective tissues (2014)
  • Author(s): Miyake N.
  • 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、（東京都江戸川区）
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] KMT2D and KDM6A mutations in patients with Kabuki syndrome. (2014)
  • Author(s): Miyake N.
  • 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、（東京都江戸川区）
  • Year and Date: 2014-11-19 – 2014-11-22
• [Presentation] メンデル遺伝性疾患における遺伝学的解析の現状と課題。 (2014)
  • Author(s): 三宅紀子
  • Organizer: 第37回日本母体胎児医学会学術集会
  • Place of Presentation: ハウステンボス （長崎県佐世保市）
  • Year and Date: 2014-11-07
  • Invited
• [Presentation] Clinical comparison of Kabuki syndrome with KMT2D and KDM6A mutations. (2014)
  • Author(s): Miyake N, Koshimizu E, Matsumoto N, Niikawa N.
  • Organizer: The 64th Annual Meeting of the American Society of Human Genetics
  • Place of Presentation: San Diego, CA, USA
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] KMT2D and KDM6A mutations in patients with Kabuki syndrome. (2014)
  • Author(s): Miyake N, Koshimizu E, Matsumoto N, Niikawa N.
  • Organizer: The European Human Genetics Conference
  • Place of Presentation: Milan, Italy
  • Year and Date: 2014-05-31 – 2014-06-03
• [Presentation] UQCRC2ホモ接合性変異による新規ミトコンドリア呼吸鎖複合体III欠損症 (2013)
  • Author(s): 三宅紀子、矢野正二、後藤雄一、松本直通
  • Organizer: 第58回日本人類遺伝学会
  • Place of Presentation: 江陽グランドホテル（宮城県仙台市）
• [Presentation] Mutations of histone modification genes in Kabuki syndrome (2013)
  • Author(s): Miyake N
  • Organizer: The 13thAnnual Meeting of East Asian Union of Human Genetics Societies
  • Place of Presentation: Harpin, China
• [Presentation] A homozygous UQCRC2 mutation cause a neonatal onset metabolic decompensation due to complex III deficiency (2013)
  • Author(s): Miyake N, Yano S, Goto Y, Matsumoto N
  • Organizer: The 63th Annual Meeting of American Society of Human Genetics
  • Place of Presentation: Boston, USA
• [Presentation] NGS application for rare congenital diseases (2013)
  • Author(s): Miyake N
  • Organizer: 7th International Symposium of Rare Diseases
  • Place of Presentation: Seoul, Korea
  • Invited
• [Presentation] A homozygous UQCRC2 mutation cause a neonatal onset metabolic decompensation due to complex III deficiency (2013)
  • Author(s): Miyake N, Yano S, Goto Y, Matsumoto N
  • Organizer: The European Human Genetics Conference 2013
  • Place of Presentation: Paris, France
• [Book] 整形・災害外科 (2014)
  • Author(s): 三宅紀子、松本直通
  • Total Pages: 8
  • Publisher: 金原出版株式会社
• [Book] 神経症候群 (2014)
  • Author(s): 今川英里, 三宅紀子, 松本直通
  • Total Pages: 4
  • Publisher: 日本臨牀社
• [Book] Adv Exp Med Biol. (2014)
  • Author(s): Miyake N, Kosho T, Matsumoto N.
  • Total Pages: 15
  • Publisher: Ｓｐｒｉｎｇｅｒ
• [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
• [Patent(Industrial Property Rights)] ミトコンドリア複合体ＩＩＩ欠乏症患者または保因者の検出方法 (2014)
  • 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: 2014-02-07
• [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: 松本直通・三宅紀子
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2013-157339
  • Filing Date: 2013-07-31