Genome assay using massive parallel sequencing

• 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
• Review Section: Biological Sciences
• Research Institution: Yokohama City University
• Principal Investigator: MATSUMOTO Naomichi 横浜市立大学, 医学研究科, 教授 (80325638)
• Co-Investigator(Kenkyū-buntansha): 三宅 紀子 横浜市立大学, 医学部, 准教授 (40523494)
• Project Period (FY): 2012-06-28 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥106,080,000 (Direct Cost: ¥81,600,000、Indirect Cost: ¥24,480,000); Fiscal Year 2016: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000); Fiscal Year 2015: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000); Fiscal Year 2014: ¥20,280,000 (Direct Cost: ¥15,600,000、Indirect Cost: ¥4,680,000); Fiscal Year 2013: ¥20,150,000 (Direct Cost: ¥15,500,000、Indirect Cost: ¥4,650,000); Fiscal Year 2012: ¥25,350,000 (Direct Cost: ¥19,500,000、Indirect Cost: ¥5,850,000)
• Keywords: 転写サイクル / Chip seq / BAF複合体 / 点変異 / 遺伝子重複 / 転写 / ゲノム / 発現制御 / 次世代シーケンス / 転写調節 / コピー数異常 / 遺伝子変異

Outline of Final Research Achievements

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

Research Products

• [Journal Article] Biallelic TBCD mutations cause early-onset neurodegenerative encephalopathy (2017)
  • Author(s): Miyake N, Fukai R, Ohba C, ... Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N
  • Journal Title: American Journal of Human Genetics Volume: 99 Issue: 4 Pages: 950-961
  • DOI: 10.1016/j.ajhg.2016.08.005
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome. (2016)
  • Author(s): Uchiyama Y, Nakashima M, Watanabe S, Miyajima M, Taguri M, Miyatake S, Miyake N, Saitsu H, Mishima H, Kinoshita A, Arai H, Yoshiura K, Matsumoto N.
  • Journal Title: Scientific Reports Volume: 6 Issue: 1 Pages: 22985-22985
  • DOI: 10.1038/srep22985
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia (2016)
  • Author(s): Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.
  • Journal Title: Am J Hum Genet Volume: 98 Issue: 4 Pages: 615-626
  • DOI: 10.1016/j.ajhg.2016.02.007
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. (2016)
  • Author(s): Yamashita S, Chiyonobu T, Yoshida M, Maeda H, Zuiki M, Kidowaki S, Isoda K, Morimoto M, Kato M, Saitsu H, Matsumoto N, Nakahata T, Saito MK, Hosoi H
  • Journal Title: Epilepsia Volume: 57 Issue: 4
  • DOI: 10.1111/epi.13338
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing. (2016)
  • Author(s): Fujita A, Ando K, Kobayashi E, Mitani K, Okudera K, Nakashima M, Miyatake S, Tsurusaki Y, Saitsu H, Seyama K, Miyake N, Matsumoto N.
  • Journal Title: Hum Genet. Volume: 135(1) 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 COL4A1 mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection. (2016)
  • Author(s): Smigiel R, Cabala M, Jakubiak A, Kodera H, Sasiadek MJ, Matsumoto N, Sasiadek MM, Saitsu H.
  • Journal Title: Birth Defects Res A Clin Mol Teratol Volume: 106 Issue: 4 Pages: 304-307
  • DOI: 10.1002/bdra.23488
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome. (2016)
  • Author(s): Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N.
  • Journal Title: 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] De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia (2016)
  • Author(s): Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet Volume: 61 Issue: 5 Pages: 451-455
  • DOI: 10.1038/jhg.2015.163
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Dyschromatosis symmetrica hereditaria and Aicardi-Goutires syndrome 6 are phenotypic variants caused by ADAR1 mutations. (2016)
  • Author(s): Kono M, Matsumoto F, Suzuki Y, Suganuma M, Saitsu H, Ito Y, Fujiwara S, Matsumoto K, Moriwaki S, Matsumoto N, Tomita Y, Sugiura K, Akiyama M.
  • Journal Title: J Invest Dermatol. Volume: 136 Issue: 4 Pages: 875-8
  • DOI: 10.1016/j.jid.2015.12.034
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Vein of Galen Aneurysmal malformation in monozygotic twin (2016)
  • Author(s): Komiyama M, Miyatake M Watanabe Y, Terada A, Ishiguro T, Ichiba H, Matsumoto M
  • Journal Title: World Neurosurg Volume: 91:672 Pages: 672.e11-672.e15
  • DOI: 10.1016/j.wneu.2016.04.031
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. (2016)
  • Author(s): Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet Volume: 61 Issue: 5 Pages: 381-387
  • DOI: 10.1038/jhg.2016.1
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. (2016)
  • Author(s): Inui T, Kobayashi S, Ashikari Y, Sato R, Endo W, Uematsu M, Oba H, Saitsu H, Matsumoto N, Kure S, Haginoya K.
  • Journal Title: Brain Dev. Volume: 38 Issue: 5 Pages: 520-4
  • DOI: 10.1016/j.braindev.2015.11.003
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay. (2016)
  • Author(s): Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A. and Matsumoto N.
  • Journal Title: Scientific Reports Volume: 6 Issue: 1 Pages: 30072-30072
  • DOI: 10.1038/srep30072
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo truncating mutation of TRIM8 causes early-onset epileptic encephalopathy (2016)
  • Author(s): Sakai Y#, Fukai R# (# denotes equal contribution), Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazaki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T
  • Journal Title: Ann Hum Genet Volume: 80 Issue: 4 Pages: 235-240
  • DOI: 10.1111/ahg.12157
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases (2016)
  • Author(s): Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA
  • Journal Title: Am J Med Genet A Volume: 170 Issue: 8 Pages: 1967-1973
  • DOI: 10.1002/ajmg.a.37722
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 (2016)
  • Author(s): Narumi S*, et al., Matsumoto N, et al.
  • Journal Title: Nat Genet Volume: 48 Issue: 7 Pages: 792-797
  • DOI: 10.1038/ng.3569
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis (2016)
  • Author(s): Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T
  • Journal Title: BMC Neurol Volume: 16 Issue: 1 Pages: 174-174
  • DOI: 10.1186/s12883-016-0680-6
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The first genetically confirmed Japanese patient with mucolipidosis type IV (2016)
  • Author(s): Saijo H, Hayashi M, Ezoe T, Ohba C, Saitsu H, Kurata K, Matsumoto N
  • Journal Title: Clin Case Rep Volume: 4 Issue: 5 Pages: 509-512
  • DOI: 10.1002/ccr3.540
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations (2016)
  • Author(s): Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
  • Journal Title: J Hum Genet Volume: 61 Issue: 10 Pages: 899-902
  • DOI: 10.1038/jhg.2016.64
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Molecular genetic analysis of 30 families with Joubert syndrome (2016)
  • Author(s): Suzuki T, et al., Matsumoto N
  • Journal Title: Clin Genet Volume: 90 Issue: 6 Pages: 526-535
  • DOI: 10.1111/cge.12836
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Distinct but milder phenotypes with choreiform movements in siblings with compound heterozygous mutations in the transcription preinitiation mediator complex subunit 17 (MED17) (2016)
  • Author(s): Hirabayashi S, Saitsu H, Matsumoto N
  • Journal Title: Brain Dev Volume: 38 Issue: 1 Pages: 118-123
  • DOI: 10.1016/j.braindev.2015.05.004
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Diagnosis of pancreatic lesions collected by endoscopic ultrasound-guided fine-needle aspiration using next-generation sequencing (2016)
  • Author(s): Kameta E, Sugimori K, Kaneko T, Ishii T, Miwa H, Sato T, Ishii Y, Sue S, Sasaki T, Yamashita Y, Shibata W, Matsumoto N, Maeda S
  • Journal Title: Oncol Lett Volume: 12 Issue: 5 Pages: 3875-3881
  • DOI: 10.3892/ol.2016.5168
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy (2016)
  • Author(s): Assoum M, Philippe C, et al., Matsumoto N, et al.
  • Journal Title: Am J Hum Genet Volume: 99 Issue: 6 Pages: 1368-1376
  • DOI: 10.1016/j.ajhg.2016.10.009
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] The molecular and phenotypic spectrum of IQSEC2-related epilepsy (2016)
  • Author(s): Zerem A, et al., Matsumoto N, et al.
  • Journal Title: Epilepsia Volume: 57 Issue: 11 Pages: 1858-1869
  • DOI: 10.1111/epi.13560
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Association between invisible basal ganglia and ZNF335 mutations: a case report (2016)
  • Author(s): Sato R, Takanashi J, Tsuyusaki Y, Kato M, Saitsu H, Matsumoto N, Takahashi T
  • Journal Title: Pediatrics Volume: 138 Issue: 3
  • DOI: 10.1542/peds.2016-0897
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation (2016)
  • Author(s): Kobayashi Y, Magara S, Okazaki K, Komatsubara T, Saitsu H, Matsumoto N, Kato M, Tohyama J
  • Journal Title: Brain Dev Volume: 38 Issue: 10 Pages: 950-953
  • DOI: 10.1016/j.braindev.2016.06.004
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition (2016)
  • Author(s): Kojima K, Anzai R, Ohba C, Goto T, Miyauchi A, Thony B, Saitsu H, Matsumoto N, Osaka H, Yamagata T
  • Journal Title: Brain Dev Volume: 38 Issue: 10 Pages: 959-963
  • DOI: 10.1016/j.braindev.2016.06.002
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome (2016)
  • Author(s): Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N
  • Journal Title: Am J Med Genet A Volume: 170 Issue: 10 Pages: 2662-2670
  • DOI: 10.1002/ajmg.a.37778
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016)
  • Author(s): Fujita A, Isidor B, Piloquet H, Corre P, Okamoto N, Nakashima M, Tsurusaki Y, Saitsu H, Miyake N, Matsumoto N
  • Journal Title: J Hum Genet Volume: 61 Issue: 9 Pages: 835-838
  • DOI: 10.1038/jhg.2016.54
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. (2016)
  • Author(s): *Miyamichi D, Asahina M, Nakajima J, Sato M, Hosono K, Nomura T, Negishi T, Miyake N, Hotta Y, Ogata T, Matsumoto N.
  • Journal Title: J Hum Genet. Volume: 61(9) Issue: 9 Pages: 839-842
  • DOI: 10.1038/jhg.2016.56
  • NAID: 40020938230
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations (2016)
  • Author(s): Sato R, Inui T, Endo W, Okubo Y, Takezawa Y, Anzai M, Morita H, Saitsu H, Matsumoto N, Haginoya K
  • Journal Title: Brain Dev Volume: 38 Issue: 9 Pages: 852-826
  • DOI: 10.1016/j.braindev.2016.04.007
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity (2016)
  • Author(s): Iida A, Xing W, Docx MK, Nakashima T, Wang Z, Kimizuka M, Van Hul W, Rating D, Spranger J, Ohashi H, Miyake N, Matsumoto N, Mohan S, Nishimura G, Mortier G, Ikegawa S
  • Journal Title: J Med Genet Volume: 53 Issue: 8 Pages: 568-574
  • DOI: 10.1136/jmedgenet-2016-103756
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. (2016)
  • Author(s): Kobayashi Y, Tohyama J, Kato M, Akasaka N, Magara S, Kawashima H, Ohashi T, Shiraishi H, Nakashima M, Saitsu H, Matsumoto N.
  • Journal Title: Brain Dev. Volume: 38 Issue: 7 Pages: 285-92
  • DOI: 10.1038/jhg.2016.27
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016)
  • Author(s): Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N
  • Journal Title: J Hum Genet Volume: 61 Issue: 6 Pages: 527-531
  • DOI: 10.1038/jhg.2016.9
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back. (2016)
  • Author(s): Mochida K, Amano M, Miyake N, Matsumoto N, Hatamochi A, Kosho T.
  • Journal Title: J Dermatol. Volume: Epub ahead of print Issue: 7 Pages: 1-2
  • DOI: 10.1111/1346-8138.13273
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (2016)
  • Author(s): Klionsky DJ., Abdelmohsen K., Abe A., Abedin MJ.,Inomata M., et al.
  • Journal Title: Autophagy Volume: 12(1) Issue: 1 Pages: 1-222
  • DOI: 10.1080/15548627.2015.1100356
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [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] Panventriculomegaly with a wide foramen of Magendie and large cisterna magna. (2015)
  • Author(s): Hiroshi Kageyama, Masakazu Miyajima, Ikuko Ogino, Madoka Nakajima, Kazuaki Shimoji, Ryoko Fukai, Noriko Miyake, Kenichi Nishiyama, Naomichi Matsumoto, Hajime Arai
  • Journal Title: Journal of Neurosurgery Volume: E-pub Issue: 6 Pages: 1-9
  • DOI: 10.3171/2015.6.jns15162
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS). (2015)
  • Author(s): Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T.
  • Journal Title: Am J Med Genet A Volume: 167 Issue: 3 Pages: 592-601
  • DOI: 10.1002/ajmg.a.36942
  • Peer Reviewed / Open Access
• [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) Issue: 7 Pages: 1593-1596
  • DOI: 10.1002/ajmg.a.36775
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE. (2015)
  • Author(s): Wada T, Takano K, Tsurusaki Y, Miyake N, Nakashima M, Saitsu H, Matsumoto N, Osaka H.
  • Journal Title: Pediatr Int. Volume: 57 Issue: 2 Pages: 324-326
  • DOI: 10.1111/ped.12613
  • NAID: 120005666180
  • Peer Reviewed / Open Access
• [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] 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] 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] 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: Journal of Human Genetics Volume: 60(4) Issue: 4 Pages: 167-173
  • DOI: 10.1038/jhg.2015.5
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement 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] 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) Issue: 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, 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] 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] 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) Issue: 6 Pages: e0128227-e0128227
  • DOI: 10.1371/journal.pone.0128227
  • 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 Neurology Volume: 72 Issue: 7 Pages: 797-805
  • DOI: 10.1001/jamaneurol.2015.0610
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Novel rare variations of the oxytocin receptor (OXTR) gene in autism spectrum disorder individuals. (2015)
  • Author(s): Liu X, Kawashima M, Miyagawa T, Otowa T, Latt KZ, Thiri M, Nishida H, Sugiyama T, Tsurusaki Y, Matsumoto N, Mabuchi A, Tokunaga K, Sasaki T.
  • Journal Title: Human Genome Variation Volume: 2 Issue: 1 Pages: 15024-15024
  • DOI: 10.1038/hgv.2015.24
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7). (2015)
  • Author(s): Yahikozawa H, Yoshida K, Shunichi S, Hanyu N, Doi H, Miyatake S, Matsumoto N.
  • Journal Title: Human Genome Variation Volume: 2 Issue: 1 Pages: 15015-15015
  • DOI: 10.1038/hgv.2015.12
  • Peer Reviewed / Open Access
• [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] 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] 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: Pediatrics International Volume: 57(4) Issue: 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 mouse testis. (2015)
  • Author(s): Kubo N, Toh H, Shirane K, Shirakawa T, Kobayashi H, Sato T, Sone H, Sato Y, Tomizawa S, Tsurusaki Y, Shibata H, Saitsu H, Suzuki Y, Matsumoto N, Suyama M, Kono T, Ohbo K, Sasaki H.
  • Journal Title: BMC Genomics. Volume: 16 Issue: 1 Pages: 624-624
  • DOI: 10.1186/s12864-015-1833-5
  • Peer Reviewed / Open Access / Int'l Joint Research
• [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] 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] 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] 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] A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. (2014)
  • Author(s): Takano K, Tsuyusaki Y, Sato M, Takagi M, Anzai R, Okuda M, Iai M, Yamashita S,
  • Journal Title: Brain Dev. Volume: 37(6) Issue: 6 Pages: 638-42
  • DOI: 10.1016/j.braindev.2014.10.002
  • 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 (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] 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] 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] 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] 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.
  • 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] Somatic mutation in Sturge Weber syndrome (2016)
  • Author(s): Naomichi Matsumoto
  • Organizer: The 11th Asian & Oceanian Epilepsy Congress (AOEC)
  • Place of Presentation: Hong Kong Convention & Exhibition Centre, Hong Kong
  • Int'l Joint Research / Invited
• [Presentation] Rare variants in human diseases (2016)
  • Author(s): Naomichi Matsumoto
  • Organizer: International Symposium on Genomic Medicine 2016
  • Place of Presentation: Samsung Medical Center, Seoul, Korea
  • Int'l Joint Research / Invited
• [Presentation] Mendelian Exome in Japan (2016)
  • Author(s): Naomichi Matsumoto
  • Organizer: LMCE2016, Symposium 13
  • Place of Presentation: The-K Hotel, Seoul, Korea
  • Int'l Joint Research / Invited
• [Presentation] Rare variants in human diseases (2016)
  • Author(s): Naomichi Matsumoto
  • Organizer: The 2016 Annual Meeting of The Chinese Society of Medical Genetics (CSMG)
  • Place of Presentation: Hanghzou, China
  • Int'l Joint Research / Invited
• [Presentation] 「最先端テクノロジーによる疾患ゲノム解析」 (2015)
  • Author(s): 松本直通
  • Organizer: 第1回日本産婦人科遺伝診療学会学術講演会・教育講演
  • Place of Presentation: 長崎ブリックホール（長崎県長崎市）
  • Year and Date: 2015-12-18
  • 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
• [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 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] 遺伝性疾患のエクソーム解析 (2012)
  • Author(s): 松本直通
  • Organizer: Advans研究会2012
  • Place of Presentation: ホテルグランドパレス・東京
  • Year and Date: 2012-12-15
  • Invited
• [Presentation] 発達障害におけるゲノム解析:次世代技術を用いて (2012)
  • Author(s): 松本直通
  • Organizer: 第35回日本分子生物学会年会
  • Place of Presentation: 福岡国際会議場・福岡
  • Year and Date: 2012-12-13
  • Invited
• [Presentation] エクソーム解析 (2012)
  • Author(s): 松本直通
  • Organizer: 第152回染色体研究会
  • Place of Presentation: 東京医科大学病院・東京
  • Year and Date: 2012-12-01
  • Invited
• [Presentation] Medelian exome (2012)
  • Author(s): Naomichi Matsumoto
  • Organizer: The 12th annual meeting of East Asian Union of Human Genetics Societies.
  • Place of Presentation: Seoul National University Hospital, Seoul, Korea
  • Year and Date: 2012-11-29
  • Invited
• [Presentation] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (2012)
  • Author(s): Matsumoto N
  • Organizer: American Society of Human Genetics Meeting2012
  • Place of Presentation: Moscone Center, San Francisco, CA, USA
  • Year and Date: 2012-11-08
• [Presentation] 遺伝性疾患の効率的な次世代シーケンス解析 (2012)
  • Author(s): 松本直通
  • Organizer: 人類遺伝学会第57回大会
  • Place of Presentation: 京王プラザホテル・東京
  • Year and Date: 2012-10-25
  • Invited
• [Presentation] Isolation of genes causative for genetic diseases by next generation sequencer (2012)
  • Author(s): Naomichi Matsumoto
  • Organizer: 人類遺伝学会第57回大会
  • Place of Presentation: 京王プラザホテル・東京
  • Year and Date: 2012-10-25
  • Invited
• [Presentation] 遺伝性疾患のエクソーム解析 (2012)
  • Author(s): 松本直通
  • Organizer: 生命医薬情報学連合大会2012
  • Place of Presentation: タワーホール船堀・東京
  • Year and Date: 2012-10-17
  • Invited
• [Presentation] Exome sequencing in mendelian disorders. (2012)
  • Author(s): Naomichi Matsumoto
  • Organizer: Translational Genomics Conference 2012
  • Place of Presentation: Hyatt Reagency Jeju, Jeju, Korea
  • Year and Date: 2012-10-13
  • Invited
• [Presentation] 自閉症スペクトラムとてんかんに着目したゲノム解析 (2012)
  • Author(s): 松本直通
  • Organizer: 第34回日本生物学的精神医学会
  • Place of Presentation: 神戸国際会議場・兵庫
  • Year and Date: 2012-09-28
  • Invited
• [Presentation] Mendelian Exome Analysis
  • Author(s): Naomichi Matsumoto
  • Organizer: The 10th International Workshop on Advanced Genomics
  • Place of Presentation: National Center of Sciences, Tokyo
  • 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
  • Invited
• [Remarks] 新学術領域研究「転写サイクル」ホームページ
  • URL: http://transcriptioncycle.org/
• [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