elucidation of a mechanism of developmental disorder caused genome copy number aberration

• Project/Area Number: 24791090
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: Shimojima Keiko 東京女子医科大学, 医学部, 特任助教 (30578935)
• Project Period (FY): 2012-04-01 – 2017-03-31
• Project Status: Completed (Fiscal Year 2016)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
• Keywords: iPS細胞 / 発達障害 / 神経細胞遊走障害 / ニューロン / シナプス / ｉＰＳ細胞

Outline of Final Research Achievements

In this study, we generated disease-specific induced pluripotent stem cells (iPSCs) from patients with developmental disorder whose genetic causes were identified, and we established neuronal differentiation model. We showed that disease-specific iPSCs showed abnormal neurite extension, loss of density of spine number, reduced neuronal action potential.
Furthermore, we newly identified genomic causes of patients with developmental disorder by next generation sequencing.

Research Products

• [Journal Article] A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects. (2017)
  • Author(s): Shimojima K, Okamoto N, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto). Volume: 印刷中 Issue: 1 Pages: 36-38
  • DOI: 10.1111/cga.12221
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. (2017)
  • Author(s): Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.
  • Journal Title: Am J Med Genet A. Volume: 印刷中 Issue: 5 Pages: 1264-1269
  • DOI: 10.1002/ajmg.a.38168
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment. (2017)
  • Author(s): Shirai K, Higashi Y, Shimojima K, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 173(4) Issue: 4 Pages: 1124-1127
  • DOI: 10.1002/ajmg.a.38134
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities. (2017)
  • Author(s): Seto T, Yamamoto T, Shimojima K, Shintaku H.
  • Journal Title: Hum Genome Var. Volume: Mar 16;4 Issue: 1 Pages: 17007-17007
  • DOI: 10.1038/hgv.2017.7
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism. (2017)
  • Author(s): Sangu N, Shimojima K, Takahashi Y, Ohashi T, Tohyama J, Yamamoto T.
  • Journal Title: Hum Genome Var. Volume: Feb 9;4 Issue: 1 Pages: 17001-17001
  • DOI: 10.1038/hgv.2017.1
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Neurological manifestations of 2q31 microdeletion syndrome. (2017)
  • Author(s): Okamoto N, Kimura S, Shimojima K, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto). Volume: 印刷中 Issue: 6 Pages: 197-200
  • DOI: 10.1111/cga.12212
  • NAID: 130008142300
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease. (2017)
  • Author(s): Lu Y, Shimojima K, Sakuma T, Nakaoka S, Yamamoto T.
  • Journal Title: Hum Genome Var. Volume: Jan 5;4: Issue: 1 Pages: 16044-16044
  • DOI: 10.1038/hgv.2016.44
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan. (2017)
  • Author(s): Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T.
  • Journal Title: Brain Dev. Volume: 39(5) Issue: 5 Pages: 422-425
  • DOI: 10.1016/j.braindev.2016.12.004
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient. (2017)
  • Author(s): Shimojima K, Okamoto N, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto). Volume: 印刷中 Issue: 4 Pages: 109-113
  • DOI: 10.1111/cga.12205
  • NAID: 130008142363
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. (2016)
  • Author(s): Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T.
  • Journal Title: Hum Genome Var. Volume: Oct 13;3 Issue: 1 Pages: 16033-16033
  • DOI: 10.1038/hgv.2016.33
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [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] Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis. (2016)
  • Author(s): Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T.
  • Journal Title: Eur J Med Genet. Volume: 59(11) Issue: 11 Pages: 559-563
  • DOI: 10.1016/j.ejmg.2016.10.006
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel <i>SLC16A2</i> mutations in patients with Allan-Herndon-Dudley syndrome (2016)
  • Author(s): Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T.
  • Journal Title: Intractable & Rare Diseases Research Volume: 5 Issue: 3 Pages: 214-217
  • DOI: 10.5582/irdr.2016.01051
  • NAID: 130005410394
  • ISSN: 2186-361X, 2186-3644
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly. (2016)
  • Author(s): Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.
  • Journal Title: Eur J Med Genet. Volume: 59(10) Issue: 10 Pages: 502-516
  • DOI: 10.1016/j.ejmg.2016.09.008
  • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
• [Journal Article] A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome. (2016)
  • Author(s): Oka M, Shimojima K, Yamamoto T, Hanaoka Y, Sato S, Yasuhara T, Yoshinaga H, Kobayashi K.
  • Journal Title: Clin Genet Volume: 印刷中 Issue: 6 Pages: 739-743
  • DOI: 10.1111/cge.12752
  • Peer Reviewed
• [Journal Article] Detailed analysis of 26 cases of 1q partial duplication/triplication 1 syndrome. (2016)
  • Author(s): Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
  • Journal Title: Am J Med Genet A Volume: 170A Issue: 4 Pages: 908-917
  • DOI: 10.1002/ajmg.a.37496
  • Peer Reviewed
• [Journal Article] Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: identification of a novel de novo mutation of EFNB1. (2016)
  • Author(s): Yamamoto T, Igarashi N, Shimojima K, Sangu N, Sakamoto Y, Shimoji K, Niijima S.
  • Journal Title: Congenit Anom (Kyoto) Volume: 56 Issue: 2 Pages: 91-93
  • DOI: 10.1111/cga.12123
  • NAID: 130008079219
  • Peer Reviewed
• [Journal Article] White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria. (2016)
  • Author(s): Yamamoto T, Yoshioka S, Tsurusaki Y, Shino S, Shimojima K, Shigematsu Y, Takeuchi Y, Matsumoto N.
  • Journal Title: Brain Dev. Volume: 38(1) Issue: 1 Pages: 142-144
  • DOI: 10.1016/j.braindev.2015.04.012
  • Peer Reviewed
• [Journal Article] A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia (2015)
  • Author(s): Shimojima K, Okamoto N, Yamamoto T.
  • Journal Title: Am J Med Genet A Volume: 170A Issue: 4 Pages: 1076-1079
  • DOI: 10.1002/ajmg.a.37545
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. (2015)
  • Author(s): Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K.
  • Journal Title: Brain Dev Volume: 38 Issue: 3 Pages: 280-284
  • DOI: 10.1016/j.braindev.2015.09.004
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. (2015)
  • Author(s): Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K.
  • Journal Title: Human Genome Variation Volume: 2 Issue: 1 Pages: 15048-15048
  • DOI: 10.1038/hgv.2015.48
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations. (2015)
  • Author(s): Sangu N, Shimojima K, Okumura A, Ando T, Yamamoto T.
  • Journal Title: Epilepsy Res Volume: 118 Pages: 10-13
  • DOI: 10.1016/j.eplepsyres.2015.09.010
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A denovomicrodeletioninvolving PAFAH1B (LIS1) relatedtolissencephalyphenotype. (2015)
  • Author(s): Shimojima K, Okumura A, Yamamoto T.
  • Journal Title: Data in Brief Volume: 118 Pages: 488-491
  • DOI: 10.1016/j.dib.2015.07.017
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. (2015)
  • Author(s): Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T.
  • Journal Title: Genomics Volume: 106 Issue: 4 Pages: 196-203
  • DOI: 10.1016/j.ygeno.2015.07.001
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients. (2015)
  • Author(s): Yamamoto T, Shimada S, Shimojima K, Sangu N, Ninomiya S, Kubota M.
  • Journal Title: Eur J Med Genet Volume: 58 Issue: 9 Pages: 492-495
  • DOI: 10.1016/j.ejmg.2015.06.008
  • Peer Reviewed
• [Journal Article] Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy. (2015)
  • Author(s): Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K.
  • Journal Title: Human Genome Variation Volume: 2 Issue: 1 Pages: 15042-15042
  • DOI: 10.1038/hgv.2015.42
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Characteristics of 2p15-p16.1 microdeletion syndrome; review and description of two additional patients. (2015)
  • Author(s): Shimojima K, Okamoto N, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto) Volume: 55 Issue: 3 Pages: 125-132
  • DOI: 10.1111/cga.12112
  • Peer Reviewed
• [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] Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. (2015)
  • Author(s): Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.
  • Journal Title: Brain Dev. Volume: 37(10) Issue: 10 Pages: 960-966
  • DOI: 10.1016/j.braindev.2015.03.003
  • Peer Reviewed
• [Journal Article] A novel MED12 mutation associated with non-specific X-linked intellectual disability. (2015)
  • Author(s): Yamamoto T, Shimojima K.
  • Journal Title: Human Genome Variation Volume: 2 Issue: 1 Pages: 15018-15018
  • DOI: 10.1038/hgv.2015.18
  • Peer Reviewed / Open Access
• [Journal Article] Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34. (2015)
  • Author(s): Mimaki M, Shiihara T, Watanabe M, Hirakata K, Sakazume S, Ishiguro A, Shimojima K, Yamamoto T, Oka A, Mizuguchi M.
  • Journal Title: Brain Dev Volume: 37 Issue: 7 Pages: 714-718
  • DOI: 10.1016/j.braindev.2014.10.009
  • Peer Reviewed
• [Journal Article] A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease. (2015)
  • Author(s): Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T.
  • Journal Title: Brain and Development Volume: 37 Issue: 3 Pages: 281-285
  • DOI: 10.1016/j.braindev.2014.05.004
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. (2015)
  • Author(s): Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Hiraki Y, Minami K, Watanabe K, Miura K, Chiyonobu T, Imai K, Maegaki Y, Nagata S, Kosaki K, Yamamoto T, et al.
  • Journal Title: Brain Dev Volume: 37 Issue: 5 Pages: 515-526
  • DOI: 10.1016/j.braindev.2014.08.002
  • Peer Reviewed
• [Journal Article] Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures. (2015)
  • Author(s): Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
  • Journal Title: PLoS ONE Volume: 10(3) Issue: 3 Pages: e0118946-e0118946
  • DOI: 10.1371/journal.pone.0118946
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation. (2015)
  • Author(s): Shimojima K, Okamoto N, Tamasaki A, Sangu N, Shimada S, Yamamoto T.
  • Journal Title: Am J Med Genet A Volume: 167A Issue: 4 Pages: 724-730
  • DOI: 10.1002/ajmg.a.36959
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia. (2014)
  • Author(s): Ogura K, Takeshita K, Arakawa C, Shimojima K, Yamamoto T.
  • Journal Title: Am J Med Genet B Neuropsychiatr Genet. Volume: 165B(8) Issue: 8 Pages: 684-690
  • DOI: 10.1002/ajmg.b.32274
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 3p interstitial deletion including PRICKLE2 in identical twins with autistic features. (2014)
  • Author(s): Okumura A, Yamamoto T, Miyajima M, Shimojima K, Kondo S, Abe S, Ikeno M, Shimizu T.
  • Journal Title: Pediatr Neurol. Volume: 51(5) Issue: 5 Pages: 730-733
  • DOI: 10.1016/j.pediatrneurol.2014.07.025
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation. (2014)
  • Author(s): Kobayashi S, Onuma A, Inui T, Wakusawa K, Tanaka S, Shimojima K, Yamamoto T, Haginoya K.
  • Journal Title: Pediatr Neurol. Volume: 51(3) Issue: 3 Pages: 414-416
  • DOI: 10.1016/j.pediatrneurol.2014.05.004
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. (2014)
  • Author(s): Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.
  • Journal Title: BMC Res Notes. Volume: 7 Issue: 1 Pages: 465-465
  • DOI: 10.1186/1756-0500-7-465
  • NAID: 120007163711
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Growth patterns of patients with 1p36 deletion syndrome. (2014)
  • Author(s): Sangu N, Shimojima K, Shimada S, Ando T, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto). Volume: 54(2) Issue: 2 Pages: 82-86
  • DOI: 10.1111/cga.12029
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities. (2014)
  • Author(s): Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M.
  • Journal Title: J Hum Genet. Volume: in press Issue: 6 Pages: 300-306
  • DOI: 10.1038/jhg.2014.21
  • Peer Reviewed
• [Journal Article] Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. (2014)
  • Author(s): Yamamoto T, Mencarelli MA, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F.
  • Journal Title: Eur J Med Genet. Volume: in press Issue: 4 Pages: 163-168
  • DOI: 10.1016/j.ejmg.2014.02.001
  • Peer Reviewed
• [Journal Article] Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4. (2014)
  • Author(s): Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N.
  • Journal Title: Am J Med Genet A. Volume: 164A(3) Issue: 3 Pages: 634-638
  • DOI: 10.1002/ajmg.a.36325
  • Peer Reviewed
• [Journal Article] Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism. (2013)
  • Author(s): Sangu N, Shimosato T, Inoda H, Shimada S, Shimojima K, Ando T, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto) Volume: 53(4) Issue: 4 Pages: 163-169
  • DOI: 10.1111/cga.12013
  • Peer Reviewed
• [Journal Article] Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1. (2013)
  • Author(s): Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T.
  • Journal Title: Congenit Anom (Kyoto) Volume: 53(4) Issue: 4 Pages: 155-159
  • DOI: 10.1111/j.1741-4520.2012.00384.x
  • Peer Reviewed
• [Journal Article] Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement. (2013)
  • Author(s): Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 161A(12) Issue: 12 Pages: 3049-3056
  • DOI: 10.1002/ajmg.a.36156
  • Peer Reviewed
• [Journal Article] Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism. (2013)
  • Author(s): Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 161A(8) Issue: 8 Pages: 2078-2083
  • DOI: 10.1002/ajmg.a.36027
  • Peer Reviewed
• [Journal Article] Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients. (2013)
  • Author(s): Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 161A(7) Issue: 7 Pages: 1779-1785
  • DOI: 10.1002/ajmg.a.35975
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. (2013)
  • Author(s): Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T.
  • Journal Title: J Neurol Sci. Volume: 330(1-2) Issue: 1-2 Pages: 123-126
  • DOI: 10.1016/j.jns.2013.04.017
  • Peer Reviewed
• [Journal Article] Establishment of iPS cells from patients with CNS diseases. (2013)
  • Author(s): Shimojima K, Yamamoto T.
  • Journal Title: No To Hattatsu. Volume: 45(2) Pages: 137-142
  • NAID: 10031156276
• [Journal Article] 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome. (2013)
  • Author(s): Okamoto N, Ohmachi K, Shimada S, Shimojima K, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 161A(6) Issue: 6 Pages: 1465-1469
  • DOI: 10.1002/ajmg.a.35910
  • Peer Reviewed
• [Journal Article] De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features (2013)
  • Author(s): Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K.
  • Journal Title: Mol Cytogenet. Volume: 6(1) Issue: 1 Pages: 15-15
  • DOI: 10.1186/1755-8166-6-15
  • NAID: 120007163712
  • Peer Reviewed
• [Journal Article] A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity. (2013)
  • Author(s): Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 161(A) Issue: 4 Pages: 850-855
  • DOI: 10.1002/ajmg.a.35768
  • Peer Reviewed
• [Journal Article] Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior. (2013)
  • Author(s): Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T.
  • Journal Title: Am J Med Genet A. Volume: 161A(5) Issue: 5 Pages: 1078-1084
  • DOI: 10.1002/ajmg.a.35679
  • Peer Reviewed
• [Journal Article] Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia. (2013)
  • Author(s): Okumura A, Hayashi M, Shimojima K, Ikeno M, Uchida T, Takanashi J, Okamoto N, Hisata K, Shoji H, Saito A, Furukawa T, Kishida T, Shimizu T, Yamamoto T.
  • Journal Title: Neuropathology. Volume: 33(5) Issue: 5 Pages: 553-560
  • DOI: 10.1111/neup.12007
  • Peer Reviewed
• [Journal Article] PRRT2 mutation in Japanese children with benign infantile epilepsy. (2013)
  • Author(s): Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T.
  • Journal Title: Brain Dev. Volume: 35(7) Issue: 7 Pages: 641-646
  • DOI: 10.1016/j.braindev.2012.09.015
  • Peer Reviewed
• [Journal Article] MECP2 duplication syndrome in both genders. (2013)
  • Author(s): Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
  • Journal Title: Brain Dev Volume: 35(5) Issue: 5 Pages: 411-419
  • DOI: 10.1016/j.braindev.2012.07.010
  • Peer Reviewed
• [Journal Article] A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease (2013)
  • Author(s): Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T
  • Journal Title: J Neurol Sci Volume: in press
  • Peer Reviewed
• [Journal Article] Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients (2013)
  • Author(s): Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
  • Journal Title: Am J Med Genet A Volume: in press
  • Peer Reviewed
• [Journal Article] A novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism (2013)
  • Author(s): Sangu N, Shimosato T, Inoda H, Shimada S, Shimojima K, Ando T, Yamamoto T
  • Journal Title: Congenit Anom (Kyoto) Volume: in press
  • Peer Reviewed
• [Journal Article] Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1 (2013)
  • Author(s): Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T
  • Journal Title: Congenit Anom (Kyoto) Volume: in press
  • Peer Reviewed
• [Journal Article] Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication (2012)
  • Author(s): Keiko Shimojima
  • Journal Title: Journal of Human Genetics Volume: 57 Issue: 9 Pages: 580-586
  • DOI: 10.1038/jhg.2012.71
  • Peer Reviewed
• [Presentation] 多彩な合併症を示したMED13Lハプロ不全症候群の3例 (2016)
  • Author(s): 下島圭子、山本俊至、島川修、岡本伸彦
  • Organizer: 第39回日本小児遺伝学会学術集会
  • Place of Presentation: 慶應義塾大学三田キャンパス（東京都港区）
  • Year and Date: 2016-12-09
• [Presentation] ラムダ縫合早期癒合を示したMAP2K2領域の微細欠失によるRASopathies患者. (2016)
  • Author(s): 下島圭子, 恩藤由美子, 松藤まゆみ, 佐野のぞみ, 水流尚志, 山本俊至.
  • Organizer: 第56回日本先天異常学会学術集会
  • Place of Presentation: 姫路商工会議所（兵庫県姫路市）
  • Year and Date: 2016-07-29
• [Presentation] 次世代シーケンスによるSNVスクリーニングだけではCNVが見逃される. (2016)
  • Author(s): 山本俊至, 下島圭子, 恩藤由美子, 岡本伸彦.
  • Organizer: 第56回日本先天異常学会学術集会
  • Place of Presentation: 姫路商工会議所（兵庫県姫路市）
  • Year and Date: 2016-07-29
• [Presentation] Megalencephalic leukoencephalopathy with subcortical cystsの日本人8名におけるMLC1遺伝子解析. (2016)
  • Author(s): 島田姿野, 山本俊至, 下島圭子, 永田智.
  • Organizer: 第58回日本小児神経学会学術集会
  • Place of Presentation: 京王プラザホテル（東京都新宿区）
  • Year and Date: 2016-06-03
• [Presentation] 非対称性大脳皮質異形成症症例に認められた新規TUBB3変異. (2016)
  • Author(s): 下島圭子, 岡本伸彦, 山本俊至.
  • Organizer: 第58回日本小児神経学会学術集会
  • Place of Presentation: 京王プラザホテル（東京都新宿区）
  • Year and Date: 2016-06-03
• [Presentation] CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly. (2016)
  • Author(s): Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Single nucleotide variation in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures. (2016)
  • Author(s): Yamamoto T, Shimojima K, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy. (2016)
  • Author(s): Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Mutation in the gene encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease. (2016)
  • Author(s): Shimada S, Shimojima K, Yamamoto T, Nagata S.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. (2016)
  • Author(s): Ueda K, Okamoto N, Toribe Y, Shimojima K, Yamamoto T.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Novel mutation in the COL1A1 gene causes severe scoliosis and valvular heart disease in a Japanese family with osteogenesis imperfecta. (2016)
  • Author(s): Seto T, Yamamoto T, Shimojima K, Shintaku H.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] Two cases of monosomy of 3q with cerebral MRI findings. (2016)
  • Author(s): Dowa Y, Sameshima K, Ichinomiya K, Shiihara T, Shimojima K, Yamamoto T.
  • Organizer: The 13th International Congress of Human Genetics
  • Place of Presentation: 国立京都国際会館（京都府左京区）
  • Year and Date: 2016-04-03
  • Int'l Joint Research
• [Presentation] エクソーム解析によって明らかになったCLCN6変異はてんかん関連である. (2015)
  • Author(s): 山本俊至, 下島圭子, 奥村彰久, 石井敦士, 広瀬伸一.
  • 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（東京都新宿区）
  • Year and Date: 2015-10-14
• [Presentation] トリオ解析の結果良性バリアントと考えられたlarge CNVの検討. (2015)
  • Author(s): 下島圭子, 山本俊至.
  • 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（東京都新宿区）
  • Year and Date: 2015-10-14
• [Presentation] 7q31.33-q32.1微細欠失と知的障害・発達障害. (2015)
  • Author(s): 三宮範子, 下島圭子, 高橋勇弥, 大橋伯, 遠山潤, 山本俊至.
  • 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（東京都新宿区）
  • Year and Date: 2015-10-14
• [Presentation] 次世代シーケンサー・パネル解析結果を用いた隠れマルコフモデルによるゲノムコピー数解析の試み. (2015)
  • Author(s): 山本俊至, 下島圭子, 斎藤聡.
  • 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（東京都新宿区）
  • Year and Date: 2015-10-14
• [Presentation] Megalencephalic leukoencephalopathy with subcortical cystsの日本人患者におけるMLC1遺伝子変異解析. (2015)
  • Author(s): 島田姿野, 山本俊至, 下島圭子, 永田智.
  • 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（東京都新宿区）
  • Year and Date: 2015-10-14
• [Presentation] 次世代シーケンサーによる網羅的遺伝子解析でEFNB1変異が認められたcraniofacial syndromeの女児例. (2015)
  • Author(s): 三宮範子, 五十嵐成, 坂本優子, 下地一彰, 新島新一, 安藤智博, 下島圭子, 山本俊至.
  • Organizer: 第55回日本先天異常学会学術集会
  • Place of Presentation: パシフィコ横浜会議センター(神奈川県横浜市)
  • Year and Date: 2015-07-25
• [Presentation] 2p15-p16.1微細欠失の２例-既報告例18例との比較-. (2015)
  • Author(s): 下島圭子, 岡本伸彦, 三宮範子, 山本俊至.
  • Organizer: 第55回日本先天異常学会学術集会
  • Place of Presentation: パシフィコ横浜会議センター(神奈川県横浜市)
  • Year and Date: 2015-07-25
• [Presentation] 次世代シーケンサーによる網羅的遺伝子解析でMED12変異が認められた非特異的知的障害の男児例. (2015)
  • Author(s): 山本俊至, 下島圭子.
  • Organizer: 第55回日本先天異常学会学術集会
  • Place of Presentation: パシフィコ横浜会議センター(神奈川県横浜市)
  • Year and Date: 2015-07-25
• [Presentation] SLC16A2変異によるAllan&#8211;Herndon&#8211;Dudley症候群の3例. (2015)
  • Author(s): 下島圭子, 梅村綾子, 植松貢, 中山東城, 丸山幸一, 井上健, 山本俊至.
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 三井ガーデンホテル千葉(千葉県千葉市）
  • Year and Date: 2015-06-25
• [Presentation] 進行性大脳白質障害の実態調査と遺伝子診断. (2015)
  • Author(s): 三宮範子, 島田姿野, 下島圭子, 山本俊至.
  • Organizer: 第39回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 三井ガーデンホテル千葉(千葉県千葉市）
  • Year and Date: 2015-06-25
• [Presentation] ゲノム構造異常によって発症した自閉症・発達障害の疾患特異的iPS細胞を用いた病態解明と治療法開発. (2015)
  • Author(s): 山本俊至, 下島圭子, 金子博之, 岡本伸彦, 斎藤潤, 北畠康司, 永田浩一, 矢田俊彦, 小坂仁, 山形崇倫.
  • Organizer: 第57回日本小児神経学会学術集会
  • Place of Presentation: 帝国ホテル大阪(大阪府大阪市）
  • Year and Date: 2015-05-28
• [Presentation] 3p interstitial deletion including PRICKLE2 in identical twins with autistic features. (2015)
  • Author(s): Okumura A, Yamamoto T, Miyajima M, Shimojima K, Kondo S, Abe S, Ikeno M, Kurahashi H, Takasu M, Shimizu T.
  • Organizer: 第57回日本小児神経学会学術集会
  • Place of Presentation: 帝国ホテル大阪(大阪府大阪市）
  • Year and Date: 2015-05-28
• [Presentation] 7p22.1微細欠失を認め低身長を呈する男児；ACTBハプロ不全との関わり. (2014)
  • Author(s): 下島圭子, 奈良井哲, 山本俊至.
  • Organizer: 日本人類遺伝学会第59回大会/日本遺伝子診療学会第21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] PRRT2変異による乳児良性部分てんかん患者の遺伝学的特徴. (2014)
  • Author(s): 三宮範子, 下島圭子, 奥村彰久, 山本俊至.
  • Organizer: 日本人類遺伝学会第59回大会/日本遺伝子診療学会第21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] PLP1を含むXq22の微細欠失は女児における重度精神運動発達遅滞と行動異常の原因となる. (2014)
  • Author(s): 山本俊至, 下島圭子, 荒川千賀子.
  • Organizer: 日本人類遺伝学会第59回大会/日本遺伝子診療学会第21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] [シンポジウム疾患iPS細胞]小児難病研究における疾患iPS細胞利用. (2014)
  • Author(s): 山本俊至, 下島圭子.
  • Organizer: 第87回日本生化学会大会
  • Place of Presentation: 京都国際会議場（京都府京都市）
  • Year and Date: 2014-10-15 – 2014-10-18
• [Presentation] エクソーム解析によりTUBB4Aに点突然変異を認めたPelizaeus-Merzbahcer病類似の先天性白質脳症. (2014)
  • Author(s): 下島圭子, 奥村彰久, 池野充, 才津浩智, 松本直通, 山本俊至.
  • Organizer: 第54回日本先天異常学会学術集会
  • Place of Presentation: 麻布大学（神奈川県相模原市）
  • Year and Date: 2014-07-26 – 2014-07-27
• [Presentation] 精神運動発達遅滞、難聴、耳介変形などCHARGE症候群類似の症状を示した10q26微細欠失の1例. (2014)
  • Author(s): 三宮範子, 下島圭子, 酒井規夫, 岡本伸彦, 安藤智博, 山本俊至.
  • Organizer: 第54回日本先天異常学会学術集会
  • Place of Presentation: 麻布大学（神奈川県相模原市）
  • Year and Date: 2014-07-26 – 2014-07-27
• [Presentation] 乳児良性部分てんかんの遺伝子診断の有用性と課題. (2014)
  • Author(s): 三宮範子, 下島圭子, 奥村彰久, 山本俊至.
  • Organizer: 第38回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 近畿大学（大阪府東大阪市）
  • Year and Date: 2014-06-26 – 2014-06-29
• [Presentation] 非医療系学部学生への遺伝学教育とボランティア体験の重要性～出張講義の感想から見えてきたこと～. (2014)
  • Author(s): 下島圭子, 三宮範子, 島田姿野, 影山優子, 沼部博直, 山本俊至.
  • Organizer: 第38回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 近畿大学（大阪府東大阪市）
  • Year and Date: 2014-06-26 – 2014-06-29
• [Presentation] PHEPACAMを含む11q23.3-24.2の微細欠失により発症したMegalencephalic leukoencephalopathy with subcortical cyst (MLC). (2014)
  • Author(s): 島田姿野, 久保田雅也, 下島圭子, 山本俊至, 永田 智.
  • Organizer: 第56回日本小児神経学会学術集会
  • Place of Presentation: アクトシティ浜松（静岡県浜松市）
  • Year and Date: 2014-05-28 – 2014-05-31
• [Presentation] 16q12.2-21微細欠失により精神運動発達遅滞・焦点性てんかん・特徴的所見を示した１男児例. (2014)
  • Author(s): 山崎佐和子, 池野観寿, 遠山潤, 下島圭子, 山本俊至.
  • Organizer: 第56回日本小児神経学会学術集会
  • Place of Presentation: アクトシティ浜松（静岡県浜松市）
  • Year and Date: 2014-05-28 – 2014-05-31
• [Presentation] 9番染色体p13.2の微細欠失を示す3女児例. (2014)
  • Author(s): 下島圭子, 岡本伸彦, 玉崎章子, 山本俊至.
  • Organizer: 第37回日本小児遺伝学会学術集会
  • Place of Presentation: 名古屋市立大学（愛知県名古屋市）
  • Year and Date: 2014-04-10
• [Presentation] Pelizaeus-Merzbacher-like disease患者に認められたGJC2ホモ変異は母親性ダイ ソミーによるLOHによって生じた (2013)
  • Author(s): 下島圭子、田中 竜太、島田 姿野、三宮 範子、中山 純子、岩崎 信明、山本俊至
  • Organizer: 日本人類遺伝学会学術集会
  • Place of Presentation: 仙台
• [Presentation] PS細胞における二次的な染色体再構成についての検討 (2012)
  • Author(s): 下島圭子, 菅原みどり, 島田姿野, 三宮範子, 山本俊至
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京
• [Presentation] MEF2Cを含まない5q14.3微細欠失 (2012)
  • Author(s): 下島圭子, 奥村彰久, 森墾, 安部信平, 池野充, 清水俊明, 山本俊至
  • Organizer: 第52回日本先天異常学会学術集会
  • Place of Presentation: 東京
• [Presentation] 疾患患者由来iPS細胞の樹立と病態解析：中枢神経障害への応用 (2012)
  • Author(s): 下島圭子, 山本俊至
  • Organizer: 第54回日本小児神経学会総会
  • Place of Presentation: 札幌
  • Invited
• [Book] これならわかる！小児科診療に活かせる遺伝学的検査・診断・遺伝カウンセリングの上手な進めかた (2016)
  • Author(s): 奥山虎之・山本俊至（編集）
  • Total Pages: 217
  • Publisher: 診断と治療社
• [Book] iPS細胞の安全・高品質な作成技術 (2016)
  • Author(s): 下島圭子・山本俊至
  • Total Pages: 494
  • Publisher: 技術情報協会