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Volumn 135, Issue 3-4, 2011, Pages 174-202

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: Lessons for diagnostic workflow and research

Author keywords

Array CGH; Autism; Diagnostic yield; Mental retardation; Neuropsychiatric disorder; Schizophrenia; SNP array

Indexed keywords

ANEUPLOIDY; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BIPOLAR DISORDER; CHROMOSOME ABERRATION; CLINICAL RESEARCH; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DIAGNOSTIC TEST; EXOME; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; GILLES DE LA TOURETTE SYNDROME; HUMAN; MAJOR DEPRESSION; MENTAL DEFICIENCY; MENTAL DISEASE; PHENOTYPE; PLEIOTROPY; POINT MUTATION; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 83555164890     PISSN: 14248581     EISSN: 14219794     Source Type: Journal    
DOI: 10.1159/000332928     Document Type: Article
Times cited : (96)

References (260)
  • 1
    • 42349095075 scopus 로고    scopus 로고
    • Advances in autism genetics: On the threshold of a new neurobiology
    • DOI 10.1038/nrg2346, PII NRG2346
    • Abrahams BS, Geschwind DH: Advances in autism genetics: on the threshold of a new biology. Nat Rev Genet 9: 341-355 (2008). (Pubitemid 351556064)
    • (2008) Nature Reviews Genetics , vol.9 , Issue.5 , pp. 341-355
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 2
    • 77950899212 scopus 로고    scopus 로고
    • Connecting genes to brain in the autism spectrum disorders
    • Abrahams BS, Geschwind DH: Connecting genes to brain in the autism spectrum disorders. Arch Neurol 67: 395-399 (2010).
    • (2010) Arch Neurol , vol.67 , pp. 395-399
    • Abrahams, B.S.1    Geschwind, D.H.2
  • 3
    • 77950847453 scopus 로고    scopus 로고
    • Validation and implementation of array comparative hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
    • Ahn JW, Mann K, Walsh S, Shehab M, Hoang S, et al: Validation and implementation of array comparative hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Mol Cytogenet 3: 9 (2010).
    • (2010) Mol Cytogenet , vol.3 , pp. 9
    • Ahn, J.W.1    Mann, K.2    Walsh, S.3    Shehab, M.4    Hoang, S.5
  • 4
    • 70349556543 scopus 로고    scopus 로고
    • Personalized copy number and segmental duplication maps using next-generation sequencing
    • Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F: Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41: 1061-1067 (2009).
    • (2009) Nat Genet , vol.41 , pp. 1061-1067
    • Alkan, C.1    Kidd, J.M.2    Marques-Bonet, T.3    Aksay, G.4    Antonacci, F.5
  • 5
    • 79954672317 scopus 로고    scopus 로고
    • Genome structural variation discovery and genotyping
    • Alkan C, Coe BP, Eichler EE: Genome structural variation discovery and genotyping. Nat Rev Genet 12: 363-375 (2011).
    • (2011) Nat Rev Genet , vol.12 , pp. 363-375
    • Alkan, C.1    Coe, B.P.2    Eichler, E.E.3
  • 6
    • 0003652388 scopus 로고    scopus 로고
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. (American Psychiatric Association, Washington DC)
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders: DSM-IV-TR, 4th ed. (American Psychiatric Association, Washington DC 2000).
    • (2000) DSM-IV-TR, 4th Ed
  • 7
    • 34447296432 scopus 로고    scopus 로고
    • Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features
    • DOI 10.1002/ajmg.a.31773
    • Aradhya S, Manning MA, Splendore A, Cherry AM: Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features. Am J Med Genet Part A 143A:1431-1441 (2007). (Pubitemid 47051021)
    • (2007) American Journal of Medical Genetics, Part A , vol.143 , Issue.13 , pp. 1431-1441
    • Aradhya, S.1    Manning, M.A.2    Splendore, A.3    Cherry, A.M.4
  • 9
    • 33846969944 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders - Autism and developmental disabilities monitoring network, 14 sites, United States, 2002
    • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention
    • Autism and Developmental Disabilities Monitoring Network Surveillance Year 2002 Principal Investigators; Centers for Disease Control and Prevention: Prevalence of autism spectrum disorders - autism and developmental disabilities monitoring network, 14 sites, United States, 2002. MMWR Surveill Summ 56: 12-28 (2007).
    • (2007) MMWR Surveill Summ , vol.56 , pp. 12-28
  • 10
    • 0028906338 scopus 로고
    • Autism as a strongly genetic disorder: Evidence from a British twin study
    • Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, et al: Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25: 63-77 (1995).
    • (1995) Psychol Med , vol.25 , pp. 63-77
    • Bailey, A.1    Le Couteur, A.2    Gottesman, I.3    Bolton, P.4    Simonoff, E.5
  • 12
    • 23744487028 scopus 로고    scopus 로고
    • Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
    • DOI 10.1136/jmg.2004.026955
    • Barber JC: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42: 609-629 (2005). (Pubitemid 41129033)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.8 , pp. 609-629
    • Barber, J.C.K.1
  • 13
    • 35848968682 scopus 로고    scopus 로고
    • Diagnostic utility of array-based comparative genomic hybridization in a clinical setting
    • DOI 10.1002/ajmg.a.31988
    • Baris HN, Tan W-H, Kimonis VE, Irons MB: Diagnostic utility of array-based comparative genomic hybridization in a clinical setting. Am J Med genet Part A 143A:2523-2533 (2007). (Pubitemid 350058164)
    • (2007) American Journal of Medical Genetics, Part A , vol.143 , Issue.21 , pp. 2523-2533
    • Baris, H.N.1    Tan, W.-H.2    Kimonis, V.E.3    Irons, M.B.4
  • 14
    • 34247636739 scopus 로고    scopus 로고
    • Catechol-O-methyl Transferase and Expression of Schizophrenia in 73 Adults with 22q11 Deletion Syndrome
    • DOI 10.1016/j.biopsych.2006.07.038, PII S0006322306009814, Multiple Genotypes and Brain Development in Schizophrenia
    • Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EWC: Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry 61: 1135-1140 (2007). (Pubitemid 46669459)
    • (2007) Biological Psychiatry , vol.61 , Issue.10 , pp. 1135-1140
    • Bassett, A.S.1    Caluseriu, O.2    Weksberg, R.3    Young, D.A.4    Chow, E.W.C.5
  • 15
    • 57049132697 scopus 로고    scopus 로고
    • Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    • DOI 10.1093/hmg/ddn307
    • Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW: Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet 17: 4045-4053 (2008). (Pubitemid 352762863)
    • (2008) Human Molecular Genetics , vol.17 , Issue.24 , pp. 4045-4053
    • Bassett, A.S.1    Marshall, C.R.2    Lionel, A.C.3    Chow, E.W.C.4    Scherer, S.W.5
  • 16
    • 77955379566 scopus 로고    scopus 로고
    • Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease
    • Bassett AS, Scherer SW, Brzustowicz LM: Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry 167: 899-914 (2010).
    • (2010) Am J Psychiatry , vol.167 , pp. 899-914
    • Bassett, A.S.1    Scherer, S.W.2    Brzustowicz, L.M.3
  • 17
    • 74449092827 scopus 로고    scopus 로고
    • High-resolution SNP arrays in mental retardation: How much do we gain?
    • Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, et al: High-resolution SNP arrays in mental retardation: how much do we gain? Eur J Hum Genet 18: 178-185 (2009).
    • (2009) Eur J Hum Genet , vol.18 , pp. 178-185
    • Bernardini, L.1    Alesi, V.2    Loddo, S.3    Novelli, A.4    Bottillo, I.5
  • 18
    • 79952313620 scopus 로고    scopus 로고
    • Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
    • Betancur C: Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380: 42-77 (2011).
    • (2011) Brain Res , vol.1380 , pp. 42-77
    • Betancur, C.1
  • 19
    • 67349083547 scopus 로고    scopus 로고
    • Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
    • Bijlsma EK, Gijsbers AC, Schuurs-Hoeijmakers JH, van Haeringen A, Fransen van de Putte DE, et al: Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals. Eur J Med Genet 52: 77-87 (2009).
    • (2009) Eur J Med Genet , vol.52 , pp. 77-87
    • Bijlsma, E.K.1    Gijsbers, A.C.2    Schuurs-Hoeijmakers, J.H.3    Van Haeringen, A.4    Van De Putte, D.E.F.5
  • 20
    • 67651010456 scopus 로고    scopus 로고
    • Genetic advances in autism: Heterogeneity and convergence on shared pathways
    • Bill BR, Geschwind DH: Genetic advances in autism: heterogeneity and convergence on shared pathways. Curr Opin Genet Dev 19: 1-8 (2009).
    • (2009) Curr Opin Genet Dev , vol.19 , pp. 1-8
    • Bill, B.R.1    Geschwind, D.H.2
  • 21
    • 80051727525 scopus 로고    scopus 로고
    • DISC1-binding proteins in neural development, signalling and schizophrenia
    • Bradshaw NJ, Porteous DJ: DISC1-binding proteins in neural development, signalling and schizophrenia. Neuropharmacology (2011).
    • (2011) Neuropharmacology
    • Bradshaw, N.J.1    Porteous, D.J.2
  • 22
    • 79551712779 scopus 로고    scopus 로고
    • Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
    • Bremer A, Giacobini M, Eriksson M, Gustavsson P, Nordin V, et al: Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet Part B 156: 115-124 (2010).
    • (2010) Am J Med Genet Part B , vol.156 , pp. 115-124
    • Bremer, A.1    Giacobini, M.2    Eriksson, M.3    Gustavsson, P.4    Nordin, V.5
  • 23
    • 77956503087 scopus 로고    scopus 로고
    • Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes
    • Bruining H, de Sonneville L, Swaab H, de Jonge M, Kas M, et al: Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes. PLoS ONE 5:e10887 (2010).
    • (2010) PLoS ONE , vol.5
    • Bruining, H.1    De Sonneville, L.2    Swaab, H.3    De Jonge, M.4    Kas, M.5
  • 24
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, et al: Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40: 1466-1471 (2008).
    • (2008) Nat Genet , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3    Belmont, J.4    Bacino, C.A.5
  • 25
    • 62149085882 scopus 로고    scopus 로고
    • Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
    • Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, et al: Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. J Med Genet 46: 123-131 (2009).
    • (2009) J Med Genet , vol.46 , pp. 123-131
    • Bruno, D.L.1    Ganesamoorthy, D.2    Schoumans, J.3    Bankier, A.4    Coman, D.5
  • 26
    • 67651233780 scopus 로고    scopus 로고
    • Genome-wide analyses of exonic copy number variants in a familybased study point to novel autism susceptibility genes
    • Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, et al: Genome-wide analyses of exonic copy number variants in a familybased study point to novel autism susceptibility genes. PLoS Genetics 5:e1000536 (2009).
    • (2009) PLoS Genetics , vol.5
    • Bucan, M.1    Abrahams, B.S.2    Wang, K.3    Glessner, J.T.4    Herman, E.I.5
  • 27
    • 79959938953 scopus 로고    scopus 로고
    • Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients
    • Genetic Risk and Outcome in Psychosis (GROUP) Consortium
    • Buizer-Voskamp JE, Muntjewerff J-W, Genetic Risk and Outcome in Psychosis (GROUP) Consortium, Strengman E, Sabatti C, et al: Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry (2011a).
    • (2011) Biol Psychiatry
    • Buizer-Voskamp, J.E.1    Muntjewerff, J.-W.2    Strengman, E.3    Sabatti, C.4
  • 28
    • 79958016334 scopus 로고    scopus 로고
    • Paternal age and psychiatric disorders: Findings from a Dutch population registry
    • Buizer-Voskamp JE, Laan W, Staal WG, Hennekam EA, Aukes MF, et al: Paternal age and psychiatric disorders: findings from a Dutch population registry. Schizophr Res 129: 128-132 (2011b).
    • (2011) Schizophr Res , vol.129 , pp. 128-132
    • Buizer-Voskamp, J.E.1    Laan, W.2    Staal, W.G.3    Hennekam, E.A.4    Aukes, M.F.5
  • 29
    • 70350617664 scopus 로고    scopus 로고
    • Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience
    • Buysse K, Delle Chaie B, Van Coster R, Loeys B, De Paepe A, et al: Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet 52: 398-403 (2009).
    • (2009) Eur J Med Genet , vol.52 , pp. 398-403
    • Buysse, K.1    Delle Chaie, B.2    Van Coster, R.3    Loeys, B.4    De Paepe, A.5
  • 31
    • 77952818259 scopus 로고    scopus 로고
    • Genetic overlap between autism, schizophrenia and bipolar disorder
    • Carroll LS, Owen MJ: Genetic overlap between autism, schizophrenia and bipolar disorder. Genome Med 1: 102 (2009).
    • (2009) Genome Med , vol.1 , pp. 102
    • Carroll, L.S.1    Owen, M.J.2
  • 34
    • 44349186162 scopus 로고    scopus 로고
    • Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
    • Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, et al: Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 63: 1111-1117 (2008).
    • (2008) Biol Psychiatry , vol.63 , pp. 1111-1117
    • Christian, S.L.1    Brune, C.W.2    Sudi, J.3    Kumar, R.A.4    Liu, S.5
  • 37
    • 77950461601 scopus 로고    scopus 로고
    • Origins and functional impact of copy number variation in the human genome
    • Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O et al: Origins and functional impact of copy number variation in the human genome. Nature 464: 704-712 (2010).
    • (2010) Nature , vol.464 , pp. 704-712
    • Conrad, D.F.1    Pinto, D.2    Redon, R.3    Feuk, L.4    Gokcumen, O.5
  • 38
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric disorders
    • Cook EH, Scherer SW: Copy-number variations associated with neuropsychiatric disorders. Nature 45: 919-923 (2008).
    • (2008) Nature , vol.45 , pp. 919-923
    • Cook, E.H.1    Scherer, S.W.2
  • 40
    • 69349096044 scopus 로고    scopus 로고
    • L1 retrotransposition in human neuronal progenitor cells
    • Coufal NG, Garcia-Perez JL, Peng GE, Yeo GW, Mu Y, et al: L1 retrotransposition in human neuronal progenitor cells. Nature 460: 1127-1131 (2009).
    • (2009) Nature , vol.460 , pp. 1127-1131
    • Coufal, N.G.1    Garcia-Perez, J.L.2    Peng, G.E.3    Yeo, G.W.4    Mu, Y.5
  • 41
    • 59349084681 scopus 로고    scopus 로고
    • Genetics of bipolar disorder: Successful start to a long journey
    • Craddock N, Sklar P: Genetics of bipolar disorder: successful start to a long journey. Trends Genet 25: 99-105 (2009).
    • (2009) Trends Genet , vol.25 , pp. 99-105
    • Craddock, N.1    Sklar, P.2
  • 42
    • 15044363048 scopus 로고    scopus 로고
    • The genetics of schizophrenia and bipolar disorder: Dissecting psychosis
    • DOI 10.1136/jmg.2005.030718
    • Craddock N, O'Donovan MC, Owen MJ: The genetics of schizophrenia and bipolar disorder: dissecting psychosis. J Med Genet 42: 193-204 (2005). (Pubitemid 40380298)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.3 , pp. 193-204
    • Craddock, N.1    O'Donovan, M.C.2    Owen, M.J.3
  • 43
    • 77950405093 scopus 로고    scopus 로고
    • Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
    • Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, et al: Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature 464: 713-720 (2010).
    • (2010) Nature , vol.464 , pp. 713-720
    • Craddock, N.1    Hurles, M.E.2    Cardin, N.3    Pearson, R.D.4    Plagnol, V.5
  • 44
    • 65449139457 scopus 로고    scopus 로고
    • Autism-specific copy number variants further implicate the phosphatidylinositol signalling pathway and the glutamatergic synapse in the etiology of the disorder
    • Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, et al: Autism-specific copy number variants further implicate the phosphatidylinositol signalling pathway and the glutamatergic synapse in the etiology of the disorder. Hum Mol Genet 18: 1795-1804 (2009).
    • (2009) Hum Mol Genet , vol.18 , pp. 1795-1804
    • Cuscó, I.1    Medrano, A.2    Gener, B.3    Vilardell, M.4    Gallastegui, F.5
  • 45
    • 65449124258 scopus 로고    scopus 로고
    • Cytogenetic microarrays in Manitoba in patients with developmental delay
    • Dawson AJ, Riordan D, Tomiuk M, Konkin D, Anderson T, et al: Cytogenetic microarrays in Manitoba in patients with developmental delay. Clin Genet 75: 498-500 (2009).
    • (2009) Clin Genet , vol.75 , pp. 498-500
    • Dawson, A.J.1    Riordan, D.2    Tomiuk, M.3    Konkin, D.4    Anderson, T.5
  • 46
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, et al: Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133: 23-32 (2010).
    • (2010) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.1    Trucks, H.2    Helbig, I.3    Mefford, H.C.4    Baker, C.5
  • 49
    • 70350774172 scopus 로고    scopus 로고
    • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
    • Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, et al: Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet 18: 3626-3631 (2009).
    • (2009) Hum Mol Genet , vol.18 , pp. 3626-3631
    • Dibbens, L.M.1    Mullen, S.2    Helbig, I.3    Mefford, H.C.4    Bayly, M.A.5
  • 50
    • 77952887857 scopus 로고    scopus 로고
    • Rare structural variants found in attentiondeficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
    • Elia J, Gai X, Xie HM, Perin JC, Geiger E, et al: Rare structural variants found in attentiondeficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15: 637-646 (2010).
    • (2010) Mol Psychiatry , vol.15 , pp. 637-646
    • Elia, J.1    Gai, X.2    Xie, H.M.3    Perin, J.C.4    Geiger, E.5
  • 52
    • 13944269194 scopus 로고    scopus 로고
    • Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene clusters in single neurons
    • Esumi S, Kakazu N, Taguchi Y, Hirayama T, Sasaki A, et al: Monoallelic yet combinatorial expression of variable exons of the protocadherin-alpha gene clusters in single neurons. Nat Genet 37: 171-176 (2005).
    • (2005) Nat Genet , vol.37 , pp. 171-176
    • Esumi, S.1    Kakazu, N.2    Taguchi, Y.3    Hirayama, T.4    Sasaki, A.5
  • 53
    • 35649021296 scopus 로고    scopus 로고
    • Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
    • DOI 10.1002/humu.20581
    • Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, et al: Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridisation. Hum Mutat 28: 1124-1132 (2007). (Pubitemid 350036917)
    • (2007) Human Mutation , vol.28 , Issue.11 , pp. 1124-1132
    • Fan, Y.-S.1    Jayakar, P.2    Zhu, H.3    Barbouth, D.4    Sacharow, S.5    Morales, A.6    Carver, V.7    Benke, P.8    Mundy, P.9    Elsas, L.J.10
  • 54
    • 64149099583 scopus 로고    scopus 로고
    • DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
    • Firth HV, Richards SM, Bevan PA, Clayton S, Corpas M: DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 84: 524-533 (2009).
    • (2009) Am J Hum Genet , vol.84 , pp. 524-533
    • Firth, H.V.1    Richards, S.M.2    Bevan, P.A.3    Clayton, S.4    Corpas, M.5
  • 55
    • 0035653670 scopus 로고    scopus 로고
    • Genetics of autism: Complex aetiology for a heterogeneous disorder
    • DOI 10.1038/35103559
    • Folstein SE, Rosen-Sheidley B: Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2: 943-955 (2001). (Pubitemid 33691091)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.12 , pp. 943-955
    • Folstein, S.E.1    Rosen-Sheidley, B.2
  • 56
    • 33845797961 scopus 로고    scopus 로고
    • The genetics of autistic disorders and its clinical relevance: A review of the literature
    • DOI 10.1038/sj.mp.4001896, PII 4001896
    • Freitag CM: The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 12: 2-22 (2007). (Pubitemid 44973659)
    • (2007) Molecular Psychiatry , vol.12 , Issue.1 , pp. 2-22
    • Freitag, C.M.1
  • 60
    • 71049129029 scopus 로고    scopus 로고
    • Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    • Friedman JM, Adam S, Arbour L, Armstrong L, Baross A, et al: Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 10: 526 (2009).
    • (2009) BMC Genomics , vol.10 , pp. 526
    • Friedman, J.M.1    Adam, S.2    Arbour, L.3    Armstrong, L.4    Baross, A.5
  • 61
    • 70350371278 scopus 로고    scopus 로고
    • A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities
    • Gijsbers AC, Lew JY, Bosch CA, Schuurs-Hoeijmakers JH, van Haeringen A, et al: A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities. Eur J Hum Genet 17: 1394-1402 (2009).
    • (2009) Eur J Hum Genet , vol.17 , pp. 1394-1402
    • Gijsbers, A.C.1    Lew, J.Y.2    Bosch, C.A.3    Schuurs-Hoeijmakers, J.H.4    Van Haeringen, A.5
  • 62
    • 79958035893 scopus 로고    scopus 로고
    • Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
    • Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D: Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70: 898-907 (2011).
    • (2011) Neuron , vol.70 , pp. 898-907
    • Gilman, S.R.1    Iossifov, I.2    Levy, D.3    Ronemus, M.4    Wigler, M.5    Vitkup, D.6
  • 63
    • 78650808443 scopus 로고    scopus 로고
    • Phenotypic variability and genetic susceptibility to genomic disorders
    • Girirajan S, Eichler EE: Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-R187 (2010).
    • (2010) Hum Mol Genet , vol.19
    • Girirajan, S.1    Eichler, E.E.2
  • 64
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, Wang K, Cai G, Korvatska O, Kim C, et al: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573 (2009).
    • (2009) Nature , vol.459 , pp. 569-573
    • Glessner, J.T.1    Wang, K.2    Cai, G.3    Korvatska, O.4    Kim, C.5
  • 65
    • 77953776675 scopus 로고    scopus 로고
    • Strong synaptic transmission impact by copy number variations in schizophrenia
    • Glessner JT, Reilly MP, Kim CE, Takahashi N, Albano A, et al: Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci USA 107: 10584-10589 (2010a).
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 10584-10589
    • Glessner, J.T.1    Reilly, M.P.2    Kim, C.E.3    Takahashi, N.4    Albano, A.5
  • 66
    • 78649831407 scopus 로고    scopus 로고
    • Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder
    • Glessner JT, Wang K, Sleimann PM, Zhang H, Kim CE, et al: Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder. PLoS ONE 5:e15463 (2010b).
    • (2010) PLoS ONE , vol.5
    • Glessner, J.T.1    Wang, K.2    Sleimann, P.M.3    Zhang, H.4    Kim, C.E.5
  • 68
    • 44149125060 scopus 로고    scopus 로고
    • Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome
    • DOI 10.1002/ddrr.9
    • Gothelf D, Schaer M, Eliez S: Genes, brain development and psychiatric phenotypes in velocardio-facial syndrome. Dev Disabil Res Rev 14: 59-68 (2008). (Pubitemid 351716524)
    • (2008) Developmental Disabilities Research Reviews , vol.14 , Issue.1 , pp. 59-68
    • Gothelf, D.1    Schaer, M.2    Eliez, S.3
  • 69
    • 77950587223 scopus 로고    scopus 로고
    • Rare copy number variants. A point of rarity in genetic risk for bipolar disorder and schizophrenia
    • Grozeva D, Kirov G, Ivanov D, Jones IR, Jones L, et al: Rare copy number variants. A point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry 67: 318-327 (2010).
    • (2010) Arch Gen Psychiatry , vol.67 , pp. 318-327
    • Grozeva, D.1    Kirov, G.2    Ivanov, D.3    Jones, I.R.4    Jones, L.5
  • 70
    • 69949177829 scopus 로고    scopus 로고
    • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biological pathways in schizophrenia, autism and mental retardation
    • Guilmatre A, Dubourg C, Mosca A-L, Legallic S, Goldenberg A, et al: Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biological pathways in schizophrenia, autism and mental retardation. Arch Gen Psychiatry 66: 947-956 (2009).
    • (2009) Arch Gen Psychiatry , vol.66 , pp. 947-956
    • Guilmatre, A.1    Dubourg, C.2    Mosca, A.-L.3    Legallic, S.4    Goldenberg, A.5
  • 71
    • 65949097704 scopus 로고    scopus 로고
    • Recurrent deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    • Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, et al: Recurrent deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 46: 223-232 (2009).
    • (2009) J Med Genet , vol.46 , pp. 223-232
    • Hannes, F.D.1    Sharp, A.J.2    Mefford, H.C.3    De Ravel, T.4    Ruivenkamp, C.A.5
  • 72
    • 77951860836 scopus 로고    scopus 로고
    • The effect of translocation-induced nuclear reorganization on gene expression
    • Harewood L, Schütz F, Boyle S, Perry P, Delorenzi M, et al: The effect of translocation-induced nuclear reorganization on gene expression. Genome Res 20: 554-564 (2010).
    • (2010) Genome Res , vol.20 , pp. 554-564
    • Harewood, L.1    Schütz, F.2    Boyle, S.3    Perry, P.4    Delorenzi, M.5
  • 73
    • 79952120253 scopus 로고    scopus 로고
    • Clinical application of arraybased comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
    • Hayashi S, Imoto I, Aizu Y, Okamoto N, Kurosawa K, et al: Clinical application of arraybased comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet 56: 110-124 (2010).
    • (2010) J Hum Genet , vol.56 , pp. 110-124
    • Hayashi, S.1    Imoto, I.2    Aizu, Y.3    Okamoto, N.4    Kurosawa, K.5
  • 74
    • 34548446814 scopus 로고    scopus 로고
    • Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: A platform comparison based on statistical power analysis
    • Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeets D, Geurts van Kessel A, Veltman JA: Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis. DNA Res 14: 1-11 (2007).
    • (2007) DNA Res , vol.14 , pp. 1-11
    • Hehir-Kwa, J.Y.1    Egmont-Petersen, M.2    Janssen, I.M.3    Smeets, D.4    Geurts Van Kessel, A.5    Veltman, J.A.6
  • 76
    • 77952096810 scopus 로고    scopus 로고
    • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
    • Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, et al: Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86: 707-718 (2010).
    • (2010) Am J Hum Genet , vol.86 , pp. 707-718
    • Heinzen, E.L.1    Radtke, R.A.2    Urban, T.J.3    Cavalleri, G.L.4    Depondt, C.5
  • 77
    • 38949127199 scopus 로고    scopus 로고
    • Navigating the channels and beyond: Unravelling the genetics of the epilepsies
    • DOI 10.1016/S1474-4422(08)70039-5, PII S1474442208700395
    • Helbig I, Scheffer IE, Mulley JC, Berkovic SF: Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 7: 231-245 (2008). (Pubitemid 351215982)
    • (2008) The Lancet Neurology , vol.7 , Issue.3 , pp. 231-245
    • Helbig, I.1    Scheffer, I.E.2    Mulley, J.C.3    Berkovic, S.F.4
  • 78
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, et al: 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41: 160-162 (2009).
    • (2009) Nat Genet , vol.41 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3    Guipponi, M.4    Fichera, M.5
  • 81
    • 67650659089 scopus 로고    scopus 로고
    • Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
    • Hochstenbach R, van Binsbergen E, Engelen J, Nieuwint A, Polsta A, et al: Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. Eur J Med Genet 52: 161-169 (2009).
    • (2009) Eur J Med Genet , vol.52 , pp. 161-169
    • Hochstenbach, R.1    Van Binsbergen, E.2    Engelen, J.3    Nieuwint, A.4    Polsta, A.5
  • 84
    • 78449263023 scopus 로고    scopus 로고
    • Characterizing and predicting haploinsufficiency in the human genome
    • Huang N, Lee I, Marcotte EM, Hurles ME: Characterizing and predicting haploinsufficiency in the human genome. PLoS Genet 6: e1001154 (2010).
    • (2010) PLoS Genet , vol.6
    • Huang, N.1    Lee, I.2    Marcotte, E.M.3    Hurles, M.E.4
  • 87
    • 84947649513 scopus 로고    scopus 로고
    • Copy number variations of chromosome 16p13.1 region associated with schizophrenia
    • Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, et al: Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 16: 17-25 (2011).
    • (2011) Mol Psychiatry , vol.16 , pp. 17-25
    • Ingason, A.1    Rujescu, D.2    Cichon, S.3    Sigurdsson, E.4    Sigmundsson, T.5
  • 88
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium
    • International Schizophrenia Consortium: Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241 (2008).
    • (2008) Nature , vol.455 , pp. 237-241
  • 90
    • 78650033928 scopus 로고    scopus 로고
    • Somatic genome variations in health and disease
    • Iourov IY, Vorsanva SG, Yurov YB: Somatic genome variations in health and disease. Curr Genomics 11: 387-396 (2010).
    • (2010) Curr Genomics , vol.11 , pp. 387-396
    • Iourov, I.Y.1    Vorsanva, S.G.2    Yurov, Y.B.3
  • 91
    • 62649088108 scopus 로고    scopus 로고
    • Population analysis of large copy number variants and hotspots of human genetic disease
    • Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al: Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161 (2009).
    • (2009) Am J Hum Genet , vol.84 , pp. 148-161
    • Itsara, A.1    Cooper, G.M.2    Baker, C.3    Girirajan, S.4    Li, J.5
  • 92
    • 78649264297 scopus 로고    scopus 로고
    • De novo rates and selection of large copy number variation
    • Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, et al: De novo rates and selection of large copy number variation. Genome Res 20: 1469-1481 (2010).
    • (2010) Genome Res , vol.20 , pp. 1469-1481
    • Itsara, A.1    Wu, H.2    Smith, J.D.3    Nickerson, D.A.4    Romieu, I.5
  • 94
    • 77950860862 scopus 로고    scopus 로고
    • Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series
    • Jaillard S, Drunat S, Bendavid C, Abourra A, Etcheverry A, et al: Identification of gene copy number variations in patients with mental retardation using array-CGH: novel syndromes in a large French series. Eur J Med Genet 53: 66-75 (2010).
    • (2010) Eur J Med Genet , vol.53 , pp. 66-75
    • Jaillard, S.1    Drunat, S.2    Bendavid, C.3    Abourra, A.4    Etcheverry, A.5
  • 95
    • 79960812993 scopus 로고    scopus 로고
    • American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
    • Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST: American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 13: 680-685 (2011).
    • (2011) Genet Med , vol.13 , pp. 680-685
    • Kearney, H.M.1    Thorland, E.C.2    Brown, K.K.3    Quintero-Rivera, F.4    South, S.T.5
  • 97
    • 74949088599 scopus 로고    scopus 로고
    • The role of copy number variation in schizophrenia
    • Kirov G: The role of copy number variation in schizophrenia. Expert Rev Neurother 10: 25-32 (2010).
    • (2010) Expert Rev Neurother , vol.10 , pp. 25-32
    • Kirov, G.1
  • 98
    • 64549147485 scopus 로고    scopus 로고
    • Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
    • Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, et al: Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Human Mol Genet 18: 1497-1503 (2009).
    • (2009) Human Mol Genet , vol.18 , pp. 1497-1503
    • Kirov, G.1    Grozeva, D.2    Norton, N.3    Ivanov, D.4    Mantripragada, K.K.5
  • 99
    • 79955416773 scopus 로고    scopus 로고
    • Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
    • Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, et al: Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 20: 1916-1924 (2011).
    • (2011) Hum Mol Genet , vol.20 , pp. 1916-1924
    • Kloosterman, W.P.1    Guryev, V.2    Van Roosmalen, M.3    Duran, K.J.4    De Bruijn, E.5
  • 100
    • 65449119595 scopus 로고    scopus 로고
    • Economic cost of autism in the UK
    • Knapp M, Romeo R, Beecham J: Economic cost of autism in the UK. Autism 13: 317-336 (2009).
    • (2009) Autism , vol.13 , pp. 317-336
    • Knapp, M.1    Romeo, R.2    Beecham, J.3
  • 102
    • 44949159619 scopus 로고    scopus 로고
    • The current excitement about copy-number variation: How it relates to gene duplications and protein families
    • Korbel JO, Kim PM, Chen X, Urban AE, Weissman S, et al: The current excitement about copy-number variation: how it relates to gene duplications and protein families. Curr Opin Struct Biol 18: 366-374 (2008).
    • (2008) Curr Opin Struct Biol , vol.18 , pp. 366-374
    • Korbel, J.O.1    Kim, P.M.2    Chen, X.3    Urban, A.E.4    Weissman, S.5
  • 105
    • 78649886505 scopus 로고    scopus 로고
    • Clinical practice. Tourette's syndrome
    • Kurlan R: Clinical practice. Tourette's syndrome. N Engl J Med 363: 2332-2338 (2010).
    • (2010) N Engl J Med , vol.363 , pp. 2332-2338
    • Kurlan, R.1
  • 107
    • 79955470881 scopus 로고    scopus 로고
    • Genome-wide copy number variation analysis in attention-deficit/ hyperactivity disorder: Association with neuropeptide y gene dosage in an extended pedigree
    • Lesch K-P, Selch S, Renner TJ, Jacob C, Nguyen TT, et al: Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. Mol Psychiatry 16: 491-503 (2011).
    • (2011) Mol Psychiatry , vol.16 , pp. 491-503
    • Lesch, K.-P.1    Selch, S.2    Renner, T.J.3    Jacob, C.4    Nguyen, T.T.5
  • 108
    • 79952710338 scopus 로고    scopus 로고
    • Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
    • Levinson DF, Duan J, Oh S, Wang K, Sanders AR, et al: Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 168: 302-316 (2011).
    • (2011) Am J Psychiatry , vol.168 , pp. 302-316
    • Levinson, D.F.1    Duan, J.2    Oh, S.3    Wang, K.4    Sanders, A.R.5
  • 109
    • 79958032110 scopus 로고    scopus 로고
    • Rare de novo and transmitted copy-number variation in autistic spectrum disorders
    • Levy D, Ronemus M, Yamrom B, Lee Y-H, Leotta A, et al: Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70: 886-897 (2011).
    • (2011) Neuron , vol.70 , pp. 886-897
    • Levy, D.1    Ronemus, M.2    Yamrom, B.3    Lee, Y.-H.4    Leotta, A.5
  • 110
    • 78649906500 scopus 로고    scopus 로고
    • Overview of the genetics of major depressive disorder
    • Lohoff FW: Overview of the genetics of major depressive disorder. Curr Psychiatry Rep 12: 539-546 (2010).
    • (2010) Curr Psychiatry Rep , vol.12 , pp. 539-546
    • Lohoff, F.W.1
  • 111
    • 34249717942 scopus 로고    scopus 로고
    • Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
    • Lu X, Shaw CA, Patel A, Li J, Cooper ML, et al: Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2:e327 (2007).
    • (2007) PLoS ONE , vol.2
    • Lu, X.1    Shaw, C.A.2    Patel, A.3    Li, J.4    Cooper, M.L.5
  • 112
    • 54549122445 scopus 로고    scopus 로고
    • Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development
    • Lybaek H, Meza-Zepeda LA, Kresse SH, Høysaeter T, Steen VM, Houge G: Array-CGH fine mapping of minor and cryptic HR-CGH detected genomic imbalances in 80 out of 590 patients with abnormal development. Eur J Hum Genet 16: 1318-1328 (2008).
    • (2008) Eur J Hum Genet , vol.16 , pp. 1318-1328
    • Lybaek, H.1    Meza-Zepeda, L.A.2    Kresse, S.H.3    Høysaeter, T.4    Steen, V.M.5    Houge, G.6
  • 115
    • 70449397325 scopus 로고    scopus 로고
    • Parental perceived value of a diagnosis for intellectual disability (ID): A qualitative comparison of families with and without a diagnosis for their child's ID
    • Makela NL, Birch PH, Friedman JM, Marra CA: Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID. Am J Med Genet Part A 149A:2393-2402 (2009).
    • (2009) Am J Med Genet Part A , vol.149 A , pp. 2393-2402
    • Makela, N.L.1    Birch, P.H.2    Friedman, J.M.3    Marra, C.A.4
  • 117
    • 79952486888 scopus 로고    scopus 로고
    • A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia
    • Männik K, Parkel S, Palta P, Zilina O, Puusepp H, et al: A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia. Eur J Med Genet 54: 136-143 (2011).
    • (2011) Eur J Med Genet , vol.54 , pp. 136-143
    • Männik, K.1    Parkel, S.2    Palta, P.3    Zilina, O.4    Puusepp, H.5
  • 118
    • 78049522863 scopus 로고    scopus 로고
    • The use of array-CGH in a cohort of Greek children with developmental delay
    • Manolakos E, Vetro A, Kefalas K, Rapti S-M, Louizou E, et al: The use of array-CGH in a cohort of Greek children with developmental delay. Mol Cytogenet 3: 22 (2010).
    • (2010) Mol Cytogenet , vol.3 , pp. 22
    • Manolakos, E.1    Vetro, A.2    Kefalas, K.3    Rapti, S.-M.4    Louizou, E.5
  • 122
    • 78149439424 scopus 로고    scopus 로고
    • Detection of microchromosomal aberrations in refractory epilepsy: A pilot study
    • McMahon JM, Scheffer IE, Nicholl JK, Waters W, Eyre H, et al: Detection of microchromosomal aberrations in refractory epilepsy: a pilot study. Epileptic Disorders 12: 192-198 (2010).
    • (2010) Epileptic Disorders , vol.12 , pp. 192-198
    • McMahon, J.M.1    Scheffer, I.E.2    Nicholl, J.K.3    Waters, W.4    Eyre, H.5
  • 123
    • 67649667022 scopus 로고    scopus 로고
    • Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study
    • McMullan DJ, Bonin M, Hehir-Kwa JY, de Vries BB, Dufke A, et al: Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat 30: 1082-1092 (2009).
    • (2009) Hum Mutat , vol.30 , pp. 1082-1092
    • McMullan, D.J.1    Bonin, M.2    Hehir-Kwa, J.Y.3    De Vries, B.B.4    Dufke, A.5
  • 124
    • 79955766457 scopus 로고    scopus 로고
    • Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample
    • McQuillin A, Bass N, Anjorin A, Lawrence J, Kandaswamy R, et al: Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample. Eur J Hum Genet 19: 588-592 (2011).
    • (2011) Eur J Hum Genet , vol.19 , pp. 588-592
    • McQuillin, A.1    Bass, N.2    Anjorin, A.3    Lawrence, J.4    Kandaswamy, R.5
  • 125
    • 70449704529 scopus 로고    scopus 로고
    • Computational methods for discovering structural variation with next-generation sequencing
    • Medvedev P, Stanciu M, Brudno M: Computational methods for discovering structural variation with next-generation sequencing. Nat Methods 6:S13-S20 (2009).
    • (2009) Nat Methods , vol.6
    • Medvedev, P.1    Stanciu, M.2    Brudno, M.3
  • 126
    • 54049094444 scopus 로고    scopus 로고
    • Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
    • Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, et al: Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359: 1685-1699 (2008).
    • (2008) N Engl J Med , vol.359 , pp. 1685-1699
    • Mefford, H.C.1    Sharp, A.J.2    Baker, C.3    Itsara, A.4    Jiang, Z.5
  • 127
    • 69749104320 scopus 로고    scopus 로고
    • A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
    • Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, et al: A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 19: 1579-1585 (2009).
    • (2009) Genome Res , vol.19 , pp. 1579-1585
    • Mefford, H.C.1    Cooper, G.M.2    Zerr, T.3    Smith, J.D.4    Baker, C.5
  • 128
    • 77956628767 scopus 로고    scopus 로고
    • Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
    • Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, et al: Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genetics 6:e1000962 (2010).
    • (2010) PLoS Genetics , vol.6
    • Mefford, H.C.1    Muhle, H.2    Ostertag, P.3    Von Spiczak, S.4    Buysse, K.5
  • 130
    • 79955030459 scopus 로고    scopus 로고
    • Autism spectrum disorders - A genetics review
    • Miles JH: Autism spectrum disorders - a genetics review. Genet Med 13: 278-294 (2011).
    • (2011) Genet Med , vol.13 , pp. 278-294
    • Miles, J.H.1
  • 132
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86: 749-764 (2010).
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3    Biesecker, L.G.4    Brothman, A.R.5
  • 136
    • 77949725632 scopus 로고    scopus 로고
    • Early embryonic chromosome instability results in stable mosaic pattern in human tissues
    • Mkrtchyan H, Gross M, Hinreier S, Polytiko A, Manvelyan M, et al: Early embryonic chromosome instability results in stable mosaic pattern in human tissues. PLos One 5:e9591 (2010).
    • (2010) PLos One , vol.5
    • Mkrtchyan, H.1    Gross, M.2    Hinreier, S.3    Polytiko, A.4    Manvelyan, M.5
  • 137
    • 78249281977 scopus 로고    scopus 로고
    • Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
    • SGENE Consortium, Simons Simplex Collection Genetics Consortium
    • Moreno-De-Luca D, SGENE Consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, et al: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Human Genet 87: 618-630 (2010).
    • (2010) Am J Human Genet , vol.87 , pp. 618-630
    • Moreno-De-Luca Mulle, D.J.G.1    Kaminsky, E.B.2
  • 139
    • 79952575575 scopus 로고    scopus 로고
    • Epilepsy and the new cytogenetics
    • Mulley JC, Mefford HC: Epilepsy and the new cytogenetics. Epilepsia 52: 423-432 (2011).
    • (2011) Epilepsia , vol.52 , pp. 423-432
    • Mulley, J.C.1    Mefford, H.C.2
  • 140
    • 20544466648 scopus 로고    scopus 로고
    • Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
    • DOI 10.1038/nature03663
    • Muotri AR, Chu VT, Marchetto MC, Deng W, Moran JV, Gage FH: Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition. Nature 435: 903-910 (2005). (Pubitemid 40896309)
    • (2005) Nature , vol.435 , Issue.7044 , pp. 903-910
    • Muotri, A.R.1    Chu, V.T.2    Marchetto, M.C.N.3    Deng, W.4    Moran, J.V.5    Gage, F.H.6
  • 141
    • 70349448571 scopus 로고    scopus 로고
    • Environmental influence on L1 retrotransposons in the adult hippocampus
    • Muotri AR, Zhao C, Marchetto MC, Cage FH: Environmental influence on L1 retrotransposons in the adult hippocampus. Hippocampus 19: 1002-1007 (2009).
    • (2009) Hippocampus , vol.19 , pp. 1002-1007
    • Muotri, A.R.1    Zhao, C.2    Marchetto, M.C.3    Cage, F.H.4
  • 142
  • 143
    • 76549102821 scopus 로고    scopus 로고
    • Transgenerational genetic effects on phenotypic variation and disease risk
    • Nadeau JH: Transgenerational genetic effects on phenotypic variation and disease risk. Hum Mol Genet 18:R202-R210 (2009).
    • (2009) Hum Mol Genet , vol.18
    • Nadeau, J.H.1
  • 144
    • 79951810239 scopus 로고    scopus 로고
    • Phenotypic manifestations of copy number variation in chromosome 16p13.11
    • Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, et al: Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet 19: 280-286 (2011).
    • (2011) Eur J Hum Genet , vol.19 , pp. 280-286
    • Nagamani, S.C.1    Erez, A.2    Bader, P.3    Lalani, S.R.4    Scott, D.A.5
  • 145
    • 61449229353 scopus 로고    scopus 로고
    • A genome-wide investigation of SNPs and CNVs in schizophrenia
    • Need AC, Ge D, Weale ME, Maia J, Feng S, et al: A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genetics 5:e1000373 (2009).
    • (2009) PLoS Genetics , vol.5
    • Need, A.C.1    Ge, D.2    Weale, M.E.3    Maia, J.4    Feng, S.5
  • 146
    • 33847321093 scopus 로고    scopus 로고
    • Array comparative genomic hybridization for diagnosis of developmental delay - An exploratory cost-consequences analysis
    • DOI 10.1111/j.1399-0004.2007.00756.x
    • Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, et al: Array comparative genomic hybridization for diagnosis of developmental delay - an exploratory cost-consequences analysis. Clin Genet 71: 254-259 (2007). (Pubitemid 46322664)
    • (2007) Clinical Genetics , vol.71 , Issue.3 , pp. 254-259
    • Newman, W.G.1    Hamilton, S.2    Ayres, J.3    Sanghera, N.4    Smith, A.5    Gaunt, L.6    Davies, L.M.7    Clayton-Smith, J.8
  • 147
    • 73649115644 scopus 로고    scopus 로고
    • Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
    • Nishiyama T, Notohara M, Sumi S, Takami S, Kishino H: Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families. J Hum Genet 54: 721-726 (2009).
    • (2009) J Hum Genet , vol.54 , pp. 721-726
    • Nishiyama, T.1    Notohara, M.2    Sumi, S.3    Takami, S.4    Kishino, H.5
  • 148
    • 51449121623 scopus 로고    scopus 로고
    • Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
    • Nowakowska B, Stankiewicz P, Obersztyn E, Ou Z, Chinault AC, et al: Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features. Am J Med Genet Part A 146A:2361-2369 (2008).
    • (2008) Am J Med Genet Part A , vol.146 A , pp. 2361-2369
    • Nowakowska, B.1    Stankiewicz, P.2    Obersztyn, E.3    Ou, Z.4    Chinault, A.C.5
  • 149
    • 78549252909 scopus 로고    scopus 로고
    • Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
    • O'Dushlaine C, Kenny E, Heron E, Donohoe G, Gill M et al: Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. Mol Psychiatry 16: 286-292 (2011).
    • (2011) Mol Psychiatry , vol.16 , pp. 286-292
    • O'dushlaine, C.1    Kenny, E.2    Heron, E.3    Donohoe, G.4    Gill, M.5
  • 150
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak BJ, Deriziotis P, Lee C, Vries L, Schwartz JJ, et al: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43: 585-589 (2011).
    • (2011) Nat Genet , vol.43 , pp. 585-589
    • O'roak, B.J.1    Deriziotis, P.2    Lee, C.3    Vries, L.4    Schwartz, J.J.5
  • 152
    • 0842327784 scopus 로고    scopus 로고
    • Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
    • DOI 10.1136/adc.2003.026880
    • Oskarsdóttir S, Vujic M, Fasth A: Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89: 148-151 (2004). (Pubitemid 38168974)
    • (2004) Archives of Disease in Childhood , vol.89 , Issue.2 , pp. 148-151
    • Oskarsdottir, S.1    Vujic, M.2    Fasth, A.3
  • 154
    • 77957939733 scopus 로고    scopus 로고
    • Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome
    • Pani AM, Hobart HH, Morris CA, Mervis CA, Bray-Ward P, et al: Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PLoS ONE 5:e12349 (2010).
    • (2010) PLoS ONE , vol.5
    • Pani, A.M.1    Hobart, H.H.2    Morris, C.A.3    Mervis, C.A.4    Bray-Ward, P.5
  • 155
    • 33646733029 scopus 로고    scopus 로고
    • Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
    • Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, et al: Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci USA 103: 7729-7734 (2006).
    • (2006) Proc Natl Acad Sci USA , vol.103 , pp. 7729-7734
    • Paylor, R.1    Glaser, B.2    Mupo, A.3    Ataliotis, P.4    Spencer, C.5
  • 156
    • 42149173227 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations
    • DOI 10.1097/GIM.0b013e31816b64ad, PII 0012581720080400000005
    • Pickering DL, Eudy JD, Olney AH, Dave BJ, Golden D, et al: Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations. Genet Med 10: 262-266 (2008). (Pubitemid 351544128)
    • (2008) Genetics in Medicine , vol.10 , Issue.4 , pp. 262-266
    • Pickering, D.L.1    Eudy, J.D.2    Olney, A.H.3    Dave, B.J.4    Golden, D.5    Stevens, J.6    Sanger, W.G.7
  • 158
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372 (2010).
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3    Anney, R.4    Merico, D.5
  • 159
    • 51549095601 scopus 로고    scopus 로고
    • Somatic mosaicism for copy number variation in differentiated human tissues
    • Piotrowski A, Bruder CE, Andersson R, de Stahl TD, Menzel U, et al: Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 29: 1118-1124 (2008).
    • (2008) Hum Mutat , vol.29 , pp. 1118-1124
    • Piotrowski, A.1    Bruder, C.E.2    Andersson, R.3    De Stahl, T.D.4    Menzel, U.5
  • 160
    • 77955659232 scopus 로고    scopus 로고
    • A three-step workflow procedure for the interpretation of arraybased comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
    • Poot M, Hochstenbach R: A three-step workflow procedure for the interpretation of arraybased comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. Genet Med 12: 478-485 (2010).
    • (2010) Genet Med , vol.12 , pp. 478-485
    • Poot, M.1    Hochstenbach, R.2
  • 161
    • 79955749678 scopus 로고    scopus 로고
    • Identifying human disease genes through crossspecies gene mapping of evolutionary conserved processes
    • Poot M, Badea A, Williams RW, Kas MJ: Identifying human disease genes through crossspecies gene mapping of evolutionary conserved processes. PLoS ONE 6:e18612 (2011).
    • (2011) PLoS ONE , vol.6
    • Poot, M.1    Badea, A.2    Williams, R.W.3    Kas, M.J.4
  • 162
    • 44149113011 scopus 로고    scopus 로고
    • Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
    • DOI 10.1002/ddrr.5
    • Prasad SE, Howley S, Murphy KC: Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev Disabil Res Rev 14: 26-34 (2008). (Pubitemid 351716520)
    • (2008) Developmental Disabilities Research Reviews , vol.14 , Issue.1 , pp. 26-34
    • Prasad, S.E.1    Howley, S.2    Murphy, K.C.3
  • 163
    • 70349662036 scopus 로고    scopus 로고
    • Phenomic determinants of genomic variation in autism spectrum disorders
    • Qiao Y, Riendeau N, Koochek M, Liu X, Harvard C, et al: Phenomic determinants of genomic variation in autism spectrum disorders. J Med Genet 46: 680-688 (2009).
    • (2009) J Med Genet , vol.46 , pp. 680-688
    • Qiao, Y.1    Riendeau, N.2    Koochek, M.3    Liu, X.4    Harvard, C.5
  • 164
    • 77955289878 scopus 로고    scopus 로고
    • Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics
    • Qiao Y, Harvard C, Tyson C, Liu X, Fawcett C, et al: Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics. Hum Genet 128: 179-194 (2010).
    • (2010) Hum Genet , vol.128 , pp. 179-194
    • Qiao, Y.1    Harvard, C.2    Tyson, C.3    Liu, X.4    Fawcett, C.5
  • 165
    • 79960804293 scopus 로고    scopus 로고
    • 16p13.33 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders
    • Ramalingam A, Zhou X-G, Fiedler SD, Brawner SJ, Joyce JM, et al: 16p13.33 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet 56:541-544 (2011).
    • (2011) J Hum Genet , vol.56 , pp. 541-544
    • Ramalingam, A.1    Zhou, X.-G.2    Fiedler, S.D.3    Brawner, S.J.4    Joyce, J.M.5
  • 167
    • 77951977961 scopus 로고    scopus 로고
    • Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability
    • Regier DA, Friedman JM, Marra CA: Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability. Am J Hum Genet 86: 765-772 (2010).
    • (2010) Am J Hum Genet , vol.86 , pp. 765-772
    • Regier, D.A.1    Friedman, J.M.2    Marra, C.A.3
  • 169
    • 62849120806 scopus 로고    scopus 로고
    • Network analysis of positional candidate genes of schizophrenia highlights myelin-related pathways
    • Rietkerk T, Boks MP, Sommer IE, de Jong S, Kahn RS, Ophoff RA: Network analysis of positional candidate genes of schizophrenia highlights myelin-related pathways. Mol Psychiatry 14: 353-355 (2009).
    • (2009) Mol Psychiatry , vol.14 , pp. 353-355
    • Rietkerk, T.1    Boks, M.P.2    Sommer, I.E.3    De Jong, S.4    Kahn, R.S.5    Ophoff, R.A.6
  • 171
    • 77955066602 scopus 로고    scopus 로고
    • Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome
    • Rodríguez-Santiago B, Malats N, Rothman N, Armengol L, Garcia-Closas M, et al: Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. Am J Hum Genet 87: 129-138 (2010a).
    • (2010) Am J Hum Genet , vol.87 , pp. 129-138
    • Rodríguez-Santiago, B.1    Malats, N.2    Rothman, N.3    Armengol, L.4    Garcia-Closas, M.5
  • 172
    • 77957158699 scopus 로고    scopus 로고
    • Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia
    • Rodríguez-Santiago B, Brunet A, Sobrino B, Serra-Juhé C, Flores R et al: Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry 15: 1023-1033 (2010b).
    • (2010) Mol Psychiatry , vol.15 , pp. 1023-1033
    • Rodríguez-Santiago, B.1    Brunet, A.2    Sobrino, B.3    Serra-Juhé, C.4    Flores, R.5
  • 173
    • 79251470131 scopus 로고    scopus 로고
    • Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation
    • Rooms L, Vandeweyer G, Reyniers E, van Mol K, de Cranck I, et al: Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation. Am J Med Genet Part A 155A:343-348 (2011).
    • (2011) Am J Med Genet Part A , vol.155 A , pp. 343-348
    • Rooms, L.1    Vandeweyer, G.2    Reyniers, E.3    Van Mol, K.4    De Cranck, I.5
  • 174
    • 77957968873 scopus 로고    scopus 로고
    • Genetics of early onset cognitive impairment
    • Ropers HH: Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet 11: 161-187 (2010).
    • (2010) Annu Rev Genomics Hum Genet , vol.11 , pp. 161-187
    • Ropers, H.H.1
  • 177
    • 40949108044 scopus 로고    scopus 로고
    • How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay
    • DOI 10.1097/GIM.0b013e3181634eca, PII 0012581720080300000004
    • Saam J, Gudgeon J, Aston E, Brothman AR: How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay. Genet Med 10: 181-186 (2008). (Pubitemid 351416814)
    • (2008) Genetics in Medicine , vol.10 , Issue.3 , pp. 181-186
    • Saam, J.1    Gudgeon, J.2    Aston, E.3    Brothman, A.R.4
  • 178
    • 63449115513 scopus 로고    scopus 로고
    • Array CGH in patients with learning disability (mental retardation) and congenital anomalies: Updated systematic review and meta-analysis of 19 studies and 13,926 subjects
    • Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JP, Burton H: Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med 11: 139-146 (2009).
    • (2009) Genet Med , vol.11 , pp. 139-146
    • Sagoo, G.S.1    Butterworth, A.S.2    Sanderson, S.3    Shaw-Smith, C.4    Higgins, J.P.5    Burton, H.6
  • 179
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, et al: Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70: 863-885 (2011).
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3    Luo, R.4    Murtha, M.T.5
  • 180
    • 78650222317 scopus 로고    scopus 로고
    • Array comparative genomic hybridization findings in a cohort referred for an autism evaluation
    • Schaefer GB, Starr L, Pickering D, Skar G, De-Haai K, Sanger WG: Array comparative genomic hybridization findings in a cohort referred for an autism evaluation. J Child Neurol 25: 1498-1503 (2010).
    • (2010) J Child Neurol , vol.25 , pp. 1498-1503
    • Schaefer, G.B.1    Starr, L.2    Pickering, D.3    Skar, G.4    De-Haai, K.5    Sanger, W.G.6
  • 183
    • 24944478689 scopus 로고    scopus 로고
    • Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
    • DOI 10.1136/jmg.2004.029637
    • Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid B-M, Nordenskjöld M: Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 42: 699-705, (2005) (Pubitemid 41306060)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.9 , pp. 699-705
    • Schoumans, J.1    Ruivenkamp, C.2    Holmberg, E.3    Kyllerman, M.4    Anderlid, B.-M.5    Nordenskjold, M.6
  • 187
    • 0036177862 scopus 로고    scopus 로고
    • Transcription factor haploinsufficiency: When half a loaf is not enough
    • DOI 10.1172/JCI200215043
    • Seidman JG, Seidman C: Transcription factor insufficiency: when half a loaf is not enough. J Clin Invest 109: 451-455 (2002). (Pubitemid 34171775)
    • (2002) Journal of Clinical Investigation , vol.109 , Issue.4 , pp. 451-455
    • Seidman, J.G.1    Seidman, C.2
  • 188
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, et al: Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149: 98-102 (2006).
    • (2006) J Pediatr , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5
  • 190
    • 69749121852 scopus 로고    scopus 로고
    • High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
    • Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, et al: High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 19: 1682-1690 (2009).
    • (2009) Genome Res , vol.19 , pp. 1682-1690
    • Shaikh, T.H.1    Gai, X.2    Perin, J.C.3    Glessner, J.T.4    Xie, H.5
  • 195
    • 34548436564 scopus 로고    scopus 로고
    • The postsynaptic architecture of excitatory synapses: A more quantitative view
    • Sheng M, Hoogenraad CC: The postsynaptic architecture of excitatory synapses: a more quantitative view. Annu Rev Biochem 76: 823-847 (2007).
    • (2007) Annu Rev Biochem , vol.76 , pp. 823-847
    • Sheng, M.1    Hoogenraad, C.C.2
  • 197
    • 68449096727 scopus 로고    scopus 로고
    • Common variants on chromosome 6p22.1 are associated with schizophrenia
    • Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, et al: Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 460: 753-757 (2009).
    • (2009) Nature , vol.460 , pp. 753-757
    • Shi, J.1    Levinson, D.F.2    Duan, J.3    Sanders, A.R.4    Zheng, Y.5
  • 198
    • 51949088773 scopus 로고    scopus 로고
    • A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population
    • Shi YY, He G, Zhang Z, Tang W, Zhang J, et al: A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population. Mol Psychiatry 13: 911-913 (2008).
    • (2008) Mol Psychiatry , vol.13 , pp. 911-913
    • Shi, Y.Y.1    He, G.2    Zhang, Z.3    Tang, W.4    Zhang, J.5
  • 199
    • 70649089208 scopus 로고    scopus 로고
    • A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
    • Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, et al: A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet 41: 1269-1271 (2009).
    • (2009) Nat Genet , vol.41 , pp. 1269-1271
    • Shinawi, M.1    Schaaf, C.P.2    Bhatt, S.S.3    Xia, Z.4    Patel, A.5
  • 200
    • 44149115417 scopus 로고    scopus 로고
    • Velo-cardio-facial syndrome: 30 years of study
    • Shprintzen SJ: Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14: 3-10 (2008).
    • (2008) Dev Disabil Res Rev , vol.14 , pp. 3-10
    • Shprintzen, S.J.1
  • 201
    • 77952753086 scopus 로고    scopus 로고
    • Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients
    • Siggberg L, Ala-Mello S, Jaakkola E, Kuusinen E, Schuit R, et al: Array CGH in molecular diagnosis of mental retardation - a study of 150 Finnish patients. Am J Med Genet Part A 152A:1398-1410 (2010).
    • (2010) Am J Med Genet Part A , vol.152 A , pp. 1398-1410
    • Siggberg, L.1    Ala-Mello, S.2    Jaakkola, E.3    Kuusinen, E.4    Schuit, R.5
  • 205
    • 0025277392 scopus 로고
    • Association within a family of a balanced autosomal translocation with major mental illness
    • DOI 10.1016/0140-6736(90)91520-K
    • St Clair D, Blackwood D, Muir W, Carothers A, Walker M, et al: Association within a family of a balanced autosomal translocation with major mental illness. Lancet 336: 13-16 (1990). (Pubitemid 20207869)
    • (1990) Lancet , vol.336 , Issue.8706 , pp. 13-16
    • St Clair, D.1    Blackwood, D.2    Muir, W.3    Carothers, A.4    Walker, M.5    Spowart, G.6    Gosden, C.7    Evans, H.J.8
  • 208
    • 77952503974 scopus 로고    scopus 로고
    • Tourette syndrome is associated with recurrent exonic copy number variants
    • Sundaram SK, Huq AM, Wilson BJ, Chugani HT: Tourette syndrome is associated with recurrent exonic copy number variants. Neurology 74: 1583-1590 (2010).
    • (2010) Neurology , vol.74 , pp. 1583-1590
    • Sundaram, S.K.1    Huq, A.M.2    Wilson, B.J.3    Chugani, H.T.4
  • 209
    • 79960676105 scopus 로고    scopus 로고
    • New recommendations on autism spectrum disorder
    • Szatmari P: New recommendations on autism spectrum disorder. BMJ 342:d2456 (2011).
    • (2011) BMJ , vol.342
    • Szatmari, P.1
  • 211
    • 66749148353 scopus 로고    scopus 로고
    • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
    • Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, et al: A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 41: 535-543 (2009).
    • (2009) Nat Genet , vol.41 , pp. 535-543
    • Tarpey, P.S.1    Smith, R.2    Pleasance, E.3    Whibley, A.4    Edkins, S.5
  • 214
    • 77955093058 scopus 로고    scopus 로고
    • Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
    • Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, et al: Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 26: 363-372 (2010).
    • (2010) Trends Genet , vol.26 , pp. 363-372
    • Toro, R.1    Konyukh, M.2    Delorme, R.3    Leblond, C.4    Chaste, P.5
  • 215
    • 79953115975 scopus 로고    scopus 로고
    • Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
    • Tucker T, Montpetit A, Chai D, Chan S, Chénier S, et al: Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Medical Genomics 4: 25 (2011).
    • (2011) BMC Medical Genomics , vol.4 , pp. 25
    • Tucker, T.1    Montpetit, A.2    Chai, D.3    Chan, S.4    Chénier, S.5
  • 219
    • 79953057217 scopus 로고    scopus 로고
    • Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
    • Vacic V, McCarthy S, Malhotra D, Murray F, Chou H-H, et al: Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature 471: 499-503 (2011).
    • (2011) Nature , vol.471 , pp. 499-503
    • Vacic, V.1    McCarthy, S.2    Malhotra, D.3    Murray, F.4    Chou, H.-H.5
  • 220
    • 68049129849 scopus 로고    scopus 로고
    • Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
    • van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, et al: Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 46: 511-523 (2009).
    • (2009) J Med Genet , vol.46 , pp. 511-523
    • Van Bon, B.W.1    Mefford, H.C.2    Menten, B.3    Koolen, D.A.4    Sharp, A.J.5
  • 221
    • 66449126564 scopus 로고    scopus 로고
    • Gene-network analysis identifies susceptibility genes related to glycobiology in autism
    • van der Zwaag B, Franke L, Poot M, Hochstenbach R, Spierenburg HA, et al: Gene-network analysis identifies susceptibility genes related to glycobiology in autism. PLoS ONE 4:e5324 (2009a).
    • (2009) PLoS ONE , vol.4
    • Van Der Zwaag, B.1    Franke, L.2    Poot, M.3    Hochstenbach, R.4    Spierenburg, H.A.5
  • 222
    • 77952686118 scopus 로고    scopus 로고
    • A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder
    • van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, et al: A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder. Am J Med Genet Part B 153B:960-966 (2009b).
    • (2009) Am J Med Genet Part B , vol.153 B , pp. 960-966
    • Van Der Zwaag, B.1    Staal, W.G.2    Hochstenbach, R.3    Poot, M.4    Spierenburg, H.A.5
  • 223
    • 12744278217 scopus 로고    scopus 로고
    • Diagnostic investigation in individuals with mental retardation: A systematic literature review of their usefulness
    • van Karnebeek CD, Jansweijer MC, Leenders AG, Offinga M, Hennekam RC: Diagnostic investigation in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13: 6-25 (2005).
    • (2005) Eur J Hum Genet , vol.13 , pp. 6-25
    • Van Karnebeek, C.D.1    Jansweijer, M.C.2    Leenders, A.G.3    Offinga, M.4    Hennekam, R.C.5
  • 224
    • 77954891060 scopus 로고    scopus 로고
    • Synapse pathology in psychiatric and neurologic disease
    • van Spronsen M, Hoogenraad CC: Synapse pathology in psychiatric and neurologic disease. Curr Neurol Neurosci Rep 10: 207-214 (2010).
    • (2010) Curr Neurol Neurosci Rep , vol.10 , pp. 207-214
    • Van Spronsen, M.1    Hoogenraad, C.C.2
  • 225
    • 77955364508 scopus 로고    scopus 로고
    • Penetrance for copy number variants associated with schizophrenia
    • Vassos E, Collier DA, Holden S, Patch C, Rujescu D, et al: Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 19: 3477-3481 (2010).
    • (2010) Hum Mol Genet , vol.19 , pp. 3477-3481
    • Vassos, E.1    Collier, D.A.2    Holden, S.3    Patch, C.4    Rujescu, D.5
  • 226
    • 73949089947 scopus 로고    scopus 로고
    • Dominance and gene dosage balance in health and disease: Why levels matter!
    • Veitia RA, Birchler JA: Dominance and gene dosage balance in health and disease: why levels matter! J Pathol 220: 174-185 (2010).
    • (2010) J Pathol , vol.220 , pp. 174-185
    • Veitia, R.A.1    Birchler, J.A.2
  • 227
    • 48949115115 scopus 로고    scopus 로고
    • Cellular reactions to gene dosage imbalance: Genomic, transcriptomic and proteomic effects
    • Veitia RA, Bottani S, Birchler JA: Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects. Trends Genet 24: 390-397 (2008).
    • (2008) Trends Genet , vol.24 , pp. 390-397
    • Veitia, R.A.1    Bottani, S.2    Birchler, J.A.3
  • 229
    • 84860132110 scopus 로고    scopus 로고
    • Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses
    • Visscher PM, Goddard ME, Derks EM, Wray NR: Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses. Mol Psychiatry (2011).
    • (2011) Mol Psychiatry
    • Visscher, P.M.1    Goddard, M.E.2    Derks, E.M.3    Wray, N.R.4
  • 232
    • 79959262465 scopus 로고    scopus 로고
    • Transcriptomic analysis of autistic brain reveals convergent molecular pathology
    • Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, et al: Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474: 380-384 (2011).
    • (2011) Nature , vol.474 , pp. 380-384
    • Voineagu, I.1    Wang, X.2    Johnston, P.3    Lowe, J.K.4    Tian, Y.5
  • 233
    • 32844460507 scopus 로고    scopus 로고
    • Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
    • DOI 10.1038/sj.mp.4001757, PII 4001757
    • Vorstman JA, Staal WG, van Daalen E, van Engeland H, Hochstenbach PF, Franke L: Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 11: 18-28 (2006). (Pubitemid 43251084)
    • (2006) Molecular Psychiatry , vol.11 , Issue.1 , pp. 18-28
    • Vorstman, J.A.S.1    Staal, W.G.2    Van Daalen, E.3    Van Engeland, H.4    Hochstenbach, P.F.R.5    Franke, L.6
  • 236
    • 53049109352 scopus 로고    scopus 로고
    • Recurrent CNVs disrupt three candidate genes in schizophrenia patients
    • Genetic Risk and Outcome in Psychosis (GROUP) Consortium
    • Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Genetic Risk and Outcome in Psychosis (GROUP) Consortium, et al: Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet 83: 504-510 (2008).
    • (2008) Am J Hum Genet , vol.83 , pp. 504-510
    • Vrijenhoek, T.1    Buizer-Voskamp, J.E.2    Van Der Stelt, I.3    Strengman, E.4
  • 239
    • 78149477553 scopus 로고    scopus 로고
    • Dual DNA methylation patterns in the CNS reveal developmentally poised chromatin and monoallelic expression of critical genes
    • Wang J, Valo Z, Bowers CW, Smith DD, Liu Z, Singer-Sam J: Dual DNA methylation patterns in the CNS reveal developmentally poised chromatin and monoallelic expression of critical genes. PLoS ONE 5:e13843 (2010).
    • (2010) PLoS ONE , vol.5
    • Wang, J.1    Valo, Z.2    Bowers, C.W.3    Smith, D.D.4    Liu, Z.5    Singer-Sam, J.6
  • 240
    • 77956661477 scopus 로고    scopus 로고
    • Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
    • Wang L-S, Hranilovic D, Wang K, Lindquist IE, Yurcaba L, et al: Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. BMC Medical Genetics 11: 134 (2010).
    • (2010) BMC Medical Genetics , vol.11 , pp. 134
    • Wang, L.-S.1    Hranilovic, D.2    Wang, K.3    Lindquist, I.E.4    Yurcaba, L.5
  • 243
    • 77955569706 scopus 로고    scopus 로고
    • Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
    • Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, et al: Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am J Hum Genet 87: 173-188 (2010).
    • (2010) Am J Hum Genet , vol.87 , pp. 173-188
    • Whibley, A.C.1    Plagnol, V.2    Tarpey, P.S.3    Abidi, F.4    Fullston, T.5
  • 244
    • 78049303903 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis
    • Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, et al: Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 376: 1401-1408 (2010).
    • (2010) Lancet , vol.376 , pp. 1401-1408
    • Williams, N.M.1    Zaharieva, I.2    Martin, A.3    Langley, K.4    Mantripragada, K.5
  • 245
    • 33144482985 scopus 로고    scopus 로고
    • DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling
    • DOI 10.1093/hmg/ddi489
    • Wilson GM, Flibotte S, Chopra V, Melnyk BL, Honer WG, Holt RA: DNA copy number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signalling. Hum Mol Genet 15: 743-749 (2006). (Pubitemid 43264699)
    • (2006) Human Molecular Genetics , vol.15 , Issue.5 , pp. 743-749
    • Wilson, G.M.1    Flibotte, S.2    Chopra, V.3    Melnyk, B.L.4    Honer, W.G.5    Holt, R.A.6
  • 246
    • 78650895100 scopus 로고    scopus 로고
    • High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
    • Wincent J, Anderlid B-M, Lagerberg M, Nordenskjöld M, Schoumans J: High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. Clin Genet 79: 147-157 (2011).
    • (2011) Clin Genet , vol.79 , pp. 147-157
    • Wincent, J.1    Anderlid, B.-M.2    Lagerberg, M.3    Nordenskjöld, M.4    Schoumans, J.5
  • 248
    • 49649099543 scopus 로고    scopus 로고
    • Analytical and clinical validity of wholegenome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay
    • Xiang B, Li A, Valentin D, Nowak NJ, Zhao H, Li P: Analytical and clinical validity of wholegenome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay. Am J Med Genet 146A:1942-1954 (2008).
    • (2008) Am J Med Genet , vol.146 A , pp. 1942-1954
    • Xiang, B.1    Li, A.2    Valentin, D.3    Nowak, N.J.4    Zhao, H.5    Li, P.6
  • 249
    • 77649121644 scopus 로고    scopus 로고
    • Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation
    • Xiang B, Zhu H, Shen Y, Miller DT, Lu K, et al: Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation. J Mol Diagnostics 12: 204-212 (2010).
    • (2010) J Mol Diagnostics , vol.12 , pp. 204-212
    • Xiang, B.1    Zhu, H.2    Shen, Y.3    Miller, D.T.4    Lu, K.5
  • 250
    • 64849083125 scopus 로고    scopus 로고
    • CNV-seq, a new method to detect copy number variation using highthroughput sequencing
    • Xie C, Tammi MT: CNV-seq, a new method to detect copy number variation using highthroughput sequencing. BMC Bioinformatics 10: 80 (2009).
    • (2009) BMC Bioinformatics , vol.10 , pp. 80
    • Xie, C.1    Tammi, M.T.2
  • 251
    • 46249093584 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with sporadic schizophrenia
    • DOI 10.1038/ng.162, PII NG162
    • Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorou M: Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 40: 880-885 (2008). (Pubitemid 351913650)
    • (2008) Nature Genetics , vol.40 , Issue.7 , pp. 880-885
    • Xu, B.1    Roos, J.L.2    Levy, S.3    Van Rensburg, E.J.4    Gogos, J.A.5    Karayiorgou, M.6
  • 252
    • 70349756961 scopus 로고    scopus 로고
    • Elucidating the genetic architecture of familial schizophrenia using rare copy number variants and linkage scans
    • Xu B, Woodroffe A, Rodriguez-Murillo L, Roos JL, van Rensburg EJ, et al: Elucidating the genetic architecture of familial schizophrenia using rare copy number variants and linkage scans. Proc Natl Acad Sci USA 106: 16746-16751 (2009).
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 16746-16751
    • Xu, B.1    Woodroffe, A.2    Rodriguez-Murillo, L.3    Roos, J.L.4    Van Rensburg, E.J.5
  • 253
  • 256
    • 62849092230 scopus 로고    scopus 로고
    • Singleton deletions throughout the genome increase risk of bipolar disorder
    • Zhang D, Cheng L, Qian Y, Alley-Rodriquez N, Kelsoe JR, et al: Singleton deletions throughout the genome increase risk of bipolar disorder. Mol Psychiatry 14: 376-380 (2009).
    • (2009) Mol Psychiatry , vol.14 , pp. 376-380
    • Zhang, D.1    Cheng, L.2    Qian, Y.3    Alley-Rodriquez, N.4    Kelsoe, J.R.5
  • 260
    • 0242300623 scopus 로고    scopus 로고
    • Postnatal Neurodevelopmental Disorders: Meeting at the Synapse?
    • DOI 10.1126/science.1089071
    • Zoghbi HY: Postnatal developmental disorders: meeting at the synapse? Science 302: 826-830 (2003). (Pubitemid 37339616)
    • (2003) Science , vol.302 , Issue.5646 , pp. 826-830
    • Zoghbi, H.Y.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.