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Volumn 6, Issue 1, 2015, Pages 7-22

Connecting the CNTNAP2 networks with neurodevelopmental disorders

Author keywords

Autism; CNTNAP2; CNV; DNA methylation; Epilepsy; Intellectual delay; Multigenic networks; Neurodevelopmental disorders; Schizophrenia; SNV; Specific language impairment

Indexed keywords

MICRORNA; TRANSCRIPTION FACTOR;

EID: 84924734076     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000371594     Document Type: Review
Times cited : (91)

References (108)
  • 2
    • 38749140677 scopus 로고    scopus 로고
    • Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism susceptibility gene
    • Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, et al: Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism susceptibility gene. Am J Hum Genet 82: 150-159 (2008).
    • (2008) Am J Hum Genet , vol.82 , pp. 150-159
    • Alarcon, M.1    Abrahams, B.S.2    Stone, J.L.3    Duvall, J.A.4    Perederiy, J.V.5
  • 3
    • 34247560106 scopus 로고    scopus 로고
    • Mutations in TCF4 , encoding a class i basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    • Amiel J, Rio M, de Pontual L, Redon R, Malan V, et al: Mutations in TCF4 , encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet 80: 988-993 (2007).
    • (2007) Am J Hum Genet , vol.80 , pp. 988-993
    • Amiel, J.1    Rio, M.2    De Pontual, L.3    Redon, R.4    Malan, V.5
  • 4
    • 84868121906 scopus 로고    scopus 로고
    • Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development
    • Anderson GR, Galfin T, Xu W, Aoto J, Malenka RC, Südhof TC: Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development. Proc Natl Acad Sci USA 109: 18120-18125 (2012).
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 18120-18125
    • Anderson, G.R.1    Galfin, T.2    Xu, W.3    Aoto, J.4    Malenka, R.C.5    Südhof, T.C.6
  • 5
    • 84867829870 scopus 로고    scopus 로고
    • Individual common variants exert weak effects on the risk for autism spectrum disorders
    • Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, et al: Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21: 4781-4792 (2012).
    • (2012) Hum Mol Genet , vol.21 , pp. 4781-4792
    • Anney, R.1    Klei, L.2    Pinto, D.3    Almeida, J.4    Bacchelli, E.5
  • 6
    • 38749096303 scopus 로고    scopus 로고
    • A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
    • Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, et al: A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82: 160-164 (2008).
    • (2008) Am J Hum Genet , vol.82 , pp. 160-164
    • Arking, D.E.1    Cutler, D.J.2    Brune, C.W.3    Teslovich, T.M.4    West, K.5
  • 7
    • 84877585022 scopus 로고    scopus 로고
    • FOXP2 targets show evidence of positive selection in European populations
    • Ayub Q, Yngvadottir B, Chen Y, Xue Y, Hu M, et al: FOXP2 targets show evidence of positive selection in European populations. Am J Hum Genet 92: 696-706 (2013).
    • (2013) Am J Hum Genet , vol.92 , pp. 696-706
    • Ayub, Q.1    Yngvadottir, B.2    Chen, Y.3    Xue, Y.4    Hu, M.5
  • 8
    • 84892156015 scopus 로고    scopus 로고
    • Family relations in the genomic era: Communicating about intergenerational transmission of risk for disability
    • Bailey DB, Lewis MA, Roche M, Powell CM: Family relations in the genomic era: communicating about intergenerational transmission of risk for disability. Fam Rel 63: 85 (2014).
    • (2014) Fam Rel , vol.63 , pp. 85
    • Bailey, D.B.1    Lewis, M.A.2    Roche, M.3    Powell, C.M.4
  • 9
    • 38749099110 scopus 로고    scopus 로고
    • Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
    • Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, et al: Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 82: 165-173 (2008).
    • (2008) Am J Hum Genet , vol.82 , pp. 165-173
    • Bakkaloglu, B.1    Oroak, B.J.2    Louvi, A.3    Gupta, A.R.4    Abelson, J.F.5
  • 10
    • 84856656664 scopus 로고    scopus 로고
    • High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44
    • Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, et al: High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet 131: 145-156 (2012).
    • (2012) Hum Genet , vol.131 , pp. 145-156
    • Ballif, B.C.1    Rosenfeld, J.A.2    Traylor, R.3    Theisen, A.4    Bader, P.I.5
  • 11
    • 34249722774 scopus 로고    scopus 로고
    • Disruption of the CNTNAP2 gene in a t(7; 15) translocation family without symptoms of Gilles de la Tourette syndrome
    • Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, et al: Disruption of the CNTNAP2 gene in a t(7; 15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 15: 711-713 (2007).
    • (2007) Eur J Hum Genet , vol.15 , pp. 711-713
    • Belloso, J.M.1    Bache, I.2    Guitart, M.3    Caballin, M.R.4    Halgren, C.5
  • 12
    • 84908513899 scopus 로고    scopus 로고
    • Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome
    • Bertelsen B, Melchior L, Jensen LR, Groth C, Glenthøj B, et al: Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome. Eur J Hum Genet 22: 1283-1289 (2014).
    • (2014) Eur J Hum Genet , vol.22 , pp. 1283-1289
    • Bertelsen, B.1    Melchior, L.2    Jensen, L.R.3    Groth, C.4    Glenthøj, B.5
  • 13
    • 34547786100 scopus 로고    scopus 로고
    • Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum
    • Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, et al: Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 81: 292-303 (2007).
    • (2007) Am J Hum Genet , vol.81 , pp. 292-303
    • Boland, E.1    Clayton-Smith, J.2    Woo, V.G.3    McKee, S.4    Manson, F.D.5
  • 14
    • 84891779149 scopus 로고    scopus 로고
    • DECIPHER: Database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
    • Bragin E, Chatzimichali EA, Wright CF, Hurles ME, Firth HV, et al: DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Res 42(Database issue):D993-D1000 (2014).
    • (2014) Nucleic Acids Res , vol.42 , Issue.DATABASE ISSUE , pp. D993-D1000
    • Bragin, E.1    Chatzimichali, E.A.2    Wright, C.F.3    Hurles, M.E.4    Firth, H.V.5
  • 15
    • 34447305469 scopus 로고    scopus 로고
    • Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
    • Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, et al: Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet 16: 1488-1494 (2007).
    • (2007) Hum Mol Genet , vol.16 , pp. 1488-1494
    • Brockschmidt, A.1    Todt, U.2    Ryu, S.3    Hoischen, A.4    Landwehr, C.5
  • 16
    • 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 Genet 5:e1000536 (2009).
    • (2009) PLoS Genet , vol.5 , pp. e1000536
    • Bucan, M.1    Abrahams, B.S.2    Wang, K.3    Glessner, J.T.4    Herman, E.I.5
  • 17
    • 77954387335 scopus 로고    scopus 로고
    • Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene
    • Caliebe A, Kroes HY, van der Smagt JJ, Martin- Subero JI, T'nnies H, et al: Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet 53: 179-185 (2010).
    • (2010) Eur J Med Genet , vol.53 , pp. 179-185
    • Caliebe, A.1    Kroes, H.Y.2    Van Der Smagt, J.J.3    Martin- Subero, J.I.4    Tnnies, H.5
  • 19
    • 84874109945 scopus 로고    scopus 로고
    • To tell or not to tell' A systematic review of ethical reflections on incidental findings arising in genetics contexts
    • Christenhusz GM, Devriendt K, Dierickx K: To tell or not to tell' A systematic review of ethical reflections on incidental findings arising in genetics contexts. Eur J Hum Genet 21: 248-255 (2013).
    • (2013) Eur J Hum Genet , vol.21 , pp. 248-255
    • Christenhusz, G.M.1    Devriendt, K.2    Dierickx, K.3
  • 20
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • NISC Comparative Sequencing Program
    • Cooper GM, Stone EA, Asimenos G, NISC Comparative Sequencing Program, Green ED, et al: Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15: 901-913 (2005).
    • (2005) Genome Res , vol.15 , pp. 901-913
    • Cooper, G.M.1    Stone, E.A.2    Asimenos, G.3    Green, E.D.4
  • 22
    • 84894589405 scopus 로고    scopus 로고
    • Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system
    • Cristino AS, Williams SM, Hawi Z, An JY, Bellgrove MA, et al: Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry 19: 294-301 (2014).
    • (2014) Mol Psychiatry , vol.19 , pp. 294-301
    • Cristino, A.S.1    Williams, S.M.2    Hawi, Z.3    An, J.Y.4    Bellgrove, M.A.5
  • 23
    • 80051564758 scopus 로고    scopus 로고
    • No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder
    • Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, et al: No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 156B:633-639 (2011).
    • (2011) Am J Med Genet B Neuropsychiatr Genet , vol.156 B , pp. 633-639
    • Curran, S.1    Bolton, P.2    Rozsnyai, K.3    Chiocchetti, A.4    Klauck, S.M.5
  • 24
    • 0037266838 scopus 로고    scopus 로고
    • Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres
    • Denisenko-Nehrbass N, Oguievetskaia K, Goutebroze L, Galvez T, Yamakawa H, et al: Protein 4.1B associates with both Caspr/paranodin and Caspr2 at paranodes and juxtaparanodes of myelinated fibres. Eur J Neurosci 17: 411-416 (2003).
    • (2003) Eur J Neurosci , vol.17 , pp. 411-416
    • Denisenko-Nehrbass, N.1    Oguievetskaia, K.2    Goutebroze, L.3    Galvez, T.4    Yamakawa, H.5
  • 25
    • 84893875197 scopus 로고    scopus 로고
    • A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137
    • Devanna P, Vernes SC: A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137. Sci Rep 4: 3994 (2014).
    • (2014) Sci Rep , vol.4 , pp. 3994
    • Devanna, P.1    Vernes, S.C.2
  • 26
    • 84886261029 scopus 로고    scopus 로고
    • Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
    • De Wolf V, Brison N, Devriendt K, Peeters H: Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example. Am J Med Genet A 161A:2846-2854 (2013).
    • (2013) Am J Med Genet A , vol.161 A , pp. 2846-2854
    • De Wolf, V.1    Brison, N.2    Devriendt, K.3    Peeters, H.4
  • 28
    • 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
  • 29
    • 84867837982 scopus 로고    scopus 로고
    • Inherited genetic variants in autism- related CNTNAP2 show perturbed trafficking and ATF6 activation
    • Falivelli G, De Jaco A, Favaloro FL, Kim H, Wilson J, et al: Inherited genetic variants in autism- related CNTNAP2 show perturbed trafficking and ATF6 activation. Hum Mol Genet 21: 4761-4773 (2012).
    • (2012) Hum Mol Genet , vol.21 , pp. 4761-4773
    • Falivelli, G.1    De Jaco, A.2    Favaloro, F.L.3    Kim, H.4    Wilson, J.5
  • 30
    • 84869096265 scopus 로고    scopus 로고
    • Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome
    • Forrest M, Chapman RM, Doyle AM, Tinsley CL, Waite A, Blake DJ: Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. Hum Mutat 33: 1676- 1686 (2012).
    • (2012) Hum Mutat , vol.33 , pp. 1676-1686
    • Forrest, M.1    Chapman, R.M.2    Doyle, A.M.3    Tinsley, C.L.4    Waite, A.5    Blake, D.J.6
  • 33
    • 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 , pp. R176-R187
    • Girirajan, S.1    Eichler, E.E.2
  • 34
    • 84867172514 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of genomic disorders and rare copy-number variants
    • Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, et al: Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 367: 1321-1331 (2012).
    • (2012) N Engl J Med , vol.367 , pp. 1321-1331
    • Girirajan, S.1    Rosenfeld, J.A.2    Coe, B.P.3    Parikh, S.4    Friedman, N.5
  • 35
    • 0016197604 scopus 로고
    • Amino acid difference formula to help explain protein evolution
    • Grantham R: Amino acid difference formula to help explain protein evolution. Science 185: 862-864 (1974).
    • (1974) Science , vol.185 , pp. 862-864
    • Grantham, R.1
  • 36
    • 79961165354 scopus 로고    scopus 로고
    • Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    • Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, et al: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 . BMC Med Genet 12: 106 (2011).
    • (2011) BMC Med Genet , vol.12 , pp. 106
    • Gregor, A.1    Albrecht, B.2    Bader, I.3    Bijlsma, E.K.4    Ekici, A.B.5
  • 37
    • 79960419009 scopus 로고    scopus 로고
    • Clustering and activity tuning of Kv1 channels in myelinated hippocampal axons
    • Gu C, Gu Y: Clustering and activity tuning of Kv1 channels in myelinated hippocampal axons. J Biol Chem 286: 25835-25847 (2011).
    • (2011) J Biol Chem , vol.286 , pp. 25835-25847
    • Gu, C.1    Gu, Y.2
  • 38
    • 83555164890 scopus 로고    scopus 로고
    • 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
    • Hochstenbach R, Buizer-Voskamp JE, Vorstman JAS, Ophoff RA: 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. Cytogenet Genome Res 135: 174- 202 (2011).
    • (2011) Cytogenet Genome Res , vol.135 , pp. 174-202
    • Hochstenbach, R.1    Buizer-Voskamp, J.E.2    Vorstman, J.A.S.3    Ophoff, R.A.4
  • 39
    • 58149385771 scopus 로고    scopus 로고
    • Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons
    • Horresh I, Poliak S, Grant S, Bredt D, Rasband MN, Peles E: Multiple molecular interactions determine the clustering of Caspr2 and Kv1 channels in myelinated axons. J Neurosci 28: 14213-14222 (2008).
    • (2008) J Neurosci , vol.28 , pp. 14213-14222
    • Horresh, I.1    Poliak, S.2    Grant, S.3    Bredt, D.4    Rasband, M.N.5    Peles, E.6
  • 40
    • 76849089459 scopus 로고    scopus 로고
    • Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B
    • Horresh I, Bar V, Kissil JL, Peles E: Organization of myelinated axons by Caspr and Caspr2 requires the cytoskeletal adapter protein 4.1B. J Neurosci 30: 2480-2489 (2010).
    • (2010) J Neurosci , vol.30 , pp. 2480-2489
    • Horresh, I.1    Bar, V.2    Kissil, J.L.3    Peles, E.4
  • 41
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, et al: De novo gene disruptions in children on the autistic spectrum. Neuron 74: 285-299 (2012).
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1    Ronemus, M.2    Levy, D.3    Wang, Z.4    Hakker, I.5
  • 42
    • 84877648675 scopus 로고    scopus 로고
    • CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population
    • Ji W, Li T, Pan Y, Tao H, Ju K, et al: CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population. Psychiatry Res 207: 225-228 (2013).
    • (2013) Psychiatry Res , vol.207 , pp. 225-228
    • Ji, W.1    Li, T.2    Pan, Y.3    Tao, H.4    Ju, K.5
  • 43
    • 84896732337 scopus 로고    scopus 로고
    • Assessing behavioural and cognitive domains of autism spectrum disorders in rodents: Current status and future perspectives
    • Kas MJ, Glennon JC, Buitelaar J, Ey E, Biemans B, et al: Assessing behavioural and cognitive domains of autism spectrum disorders in rodents: current status and future perspectives. Psychopharmacology (Berl) 231: 1125-1146 (2014).
    • (2014) Psychopharmacology (Berl , vol.231 , pp. 1125-1146
    • Kas, M.J.1    Glennon, J.C.2    Buitelaar, J.3    Ey, E.4    Biemans, B.5
  • 44
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J: A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46: 310-315 (2014).
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    Oroak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 45
    • 84884189783 scopus 로고    scopus 로고
    • Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder
    • Koshimizu E, Miyatake S, Okamoto N, Nakashima M, Tsurusaki Y, et al: Performance comparison of bench-top next generation sequencers using microdroplet PCR-based enrichment for targeted sequencing in patients with autism spectrum disorder. PLoS One 8:e74167 (2013).
    • (2013) PLoS One , vol.8 , pp. e74167
    • Koshimizu, E.1    Miyatake, S.2    Okamoto, N.3    Nakashima, M.4    Tsurusaki, Y.5
  • 46
    • 84859066832 scopus 로고    scopus 로고
    • Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
    • Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, et al: Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 8:e1002521 (2012).
    • (2012) PLoS Genet , vol.8 , pp. e1002521
    • Leblond, C.S.1    Heinrich, J.2    Delorme, R.3    Proepper, C.4    Betancur, C.5
  • 47
    • 84899977171 scopus 로고    scopus 로고
    • Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
    • Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, et al: Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet 94: 745-754 (2014).
    • (2014) Am J Hum Genet , vol.94 , pp. 745-754
    • Lindstrand, A.1    Davis, E.E.2    Carvalho, C.M.3    Pehlivan, D.4    Willer, J.R.5
  • 48
    • 84896723059 scopus 로고    scopus 로고
    • Posttranscriptional control of the stem cell and neurogenic programs by the nonsense- mediated RNA decay pathway
    • Lou CH, Shao A, Shum EY, Espinoza JL, Huang L, et al: Posttranscriptional control of the stem cell and neurogenic programs by the nonsense- mediated RNA decay pathway. Cell Rep 6: 748-764 (2014).
    • (2014) Cell Rep , vol.6 , pp. 748-764
    • Lou, C.H.1    Shao, A.2    Shum, E.Y.3    Espinoza, J.L.4    Huang, L.5
  • 49
    • 84891783452 scopus 로고    scopus 로고
    • The Database of Genomic Variants: A curated collection of structural variation in the human genome
    • MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW: The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42:D986-D992 (2013).
    • (2013) Nucleic Acids Res , vol.42 , pp. D986-D992
    • Macdonald, J.R.1    Ziman, R.2    Yuen, R.K.3    Feuk, L.4    Scherer, S.W.5
  • 51
    • 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 Genet 6:e1000962 (2010).
    • (2010) PLoS Genet , vol.6 , pp. e1000962
    • Mefford, H.C.1    Muhle, H.2    Ostertag, P.3    Von Spiczak, S.4    Buysse, K.5
  • 52
    • 84965007027 scopus 로고    scopus 로고
    • Contactin 4-5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites
    • Mercati O, Danckaert A, André-Leroux G, Bellinzoni M, Gouder L, et al: Contactin 4, -5 and -6 differentially regulate neuritogenesis while they display identical PTPRG binding sites. Biol Open 2: 324-334 (2013).
    • (2013) Biol Open , vol.2 , pp. 324-334
    • Mercati, O.1    Danckaert, A.2    André-Leroux, G.3    Bellinzoni, M.4    Gouder, L.5
  • 53
    • 80053106248 scopus 로고    scopus 로고
    • Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
    • Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, et al: Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A 155A:2386-2396 (2011).
    • (2011) Am J Med Genet A , vol.155 A , pp. 2386-2396
    • Mikhail, F.M.1    Lose, E.J.2    Robin, N.H.3    Descartes, M.D.4    Rutledge, K.D.5
  • 54
    • 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
  • 55
    • 84890795915 scopus 로고    scopus 로고
    • Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
    • Nava C, Keren B, Mignot C, Rastetter A, Chantot- Bastaraud S, et al: Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Eur J Hum Genet 22: 71-78 (2014).
    • (2014) Eur J Hum Genet , vol.22 , pp. 71-78
    • Nava, C.1    Keren, B.2    Mignot, C.3    Rastetter, A.4    Chantot-Bastaraud, S.5
  • 56
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale BM, Kou Y, Liu L, Maayan A, Samocha KE, et al: Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485: 242-245 (2012).
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1    Kou, Y.2    Liu, L.3    Maayan, A.4    Samocha, K.E.5
  • 57
    • 77957273984 scopus 로고    scopus 로고
    • Animal models of neuropsychiatric disorders
    • Nestler EJ, Hyman SE: Animal models of neuropsychiatric disorders. Nat Neurosci 13: 1161- 1169 (2010).
    • (2010) Nat Neurosci , vol.13 , pp. 1161-1169
    • Nestler, E.J.1    Hyman, S.E.2
  • 58
    • 77957904400 scopus 로고    scopus 로고
    • Genetic advances in the study of speech and language disorders
    • Newbury DF, Monaco AP: Genetic advances in the study of speech and language disorders. Neuron 68: 309-320 (2010).
    • (2010) Neuron , vol.68 , pp. 309-320
    • Newbury, D.F.1    Monaco, A.P.2
  • 59
    • 77951174989 scopus 로고    scopus 로고
    • Recent advances in the genetics of language impairment
    • Newbury DF, Fisher SE, Monaco AP: Recent advances in the genetics of language impairment. Genome Med 2: 6 (2010).
    • (2010) Genome Med , vol.2 , pp. 6
    • Newbury, D.F.1    Fisher, S.E.2    Monaco, A.P.3
  • 60
    • 79952443636 scopus 로고    scopus 로고
    • Investigation of dyslexia and SLI risk variants in reading- and languageimpaired subjects
    • Newbury DF, Paracchini S, Scerri TS, Winchester L, Addis L, et al: Investigation of dyslexia and SLI risk variants in reading- and languageimpaired subjects. Behav Genet 41: 90-104 (2011).
    • (2011) Behav Genet , vol.41 , pp. 90-104
    • Newbury, D.F.1    Paracchini, S.2    Scerri, T.S.3    Winchester, L.4    Addis, L.5
  • 61
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, Cox NJ: Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet 6:e1000888 (2010).
    • (2010) PLoS Genet , vol.6 , pp. e1000888
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5    Cox, N.J.6
  • 62
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak BJ, Deriziotis P, Lee C, Vives 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
    • Oroak, B.J.1    Deriziotis, P.2    Lee, C.3    Vives, L.4    Schwartz, J.J.5
  • 63
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, et al: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485: 246-250 (2012).
    • (2012) Nature , vol.485 , pp. 246-250
    • Oroak, B.J.1    Vives, L.2    Girirajan, S.3    Karakoc, E.4    Krumm, N.5
  • 64
    • 77952158569 scopus 로고    scopus 로고
    • Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds
    • Panaitof SC, Abrahams BS, Dong H, Geschwind DH, White SA: Language-related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds. J Comp Neurol 518: 1995- 2018 (2010).
    • (2010) J Comp Neurol , vol.518 , pp. 1995-2018
    • Panaitof, S.C.1    Abrahams, B.S.2    Dong, H.3    Geschwind, D.H.4    White, S.A.5
  • 65
  • 66
    • 84858077787 scopus 로고    scopus 로고
    • What does CNTNAP2 reveal about autism spectrum disorder?
    • Peñagarikano O, Geschwind DH: What does CNTNAP2 reveal about autism spectrum disorder? Trends Mol Med 18: 156-163 (2012).
    • (2012) Trends Mol Med , vol.18 , pp. 156-163
    • Peñagarikano, O.1    Geschwind, D.H.2
  • 67
    • 80053540965 scopus 로고    scopus 로고
    • Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
    • Peñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, et al: Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147: 235-246 (2011).
    • (2011) Cell , vol.147 , pp. 235-246
    • Peñagarikano, O.1    Abrahams, B.S.2    Herman, E.I.3    Winden, K.D.4    Gdalyahu, A.5
  • 68
    • 79952706051 scopus 로고    scopus 로고
    • Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample
    • Peter B, Raskind WH, Matsushita M, Lisowski M, Vu T, et al: Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. J Neurodev Disord 3: 39-49 (2011).
    • (2011) J Neurodev Disord , vol.3 , pp. 39-49
    • Peter, B.1    Raskind, W.H.2    Matsushita, M.3    Lisowski, M.4    Vu, T.5
  • 69
    • 78649665537 scopus 로고    scopus 로고
    • Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
    • Petrin AL, Giacheti CM, Maximino LP, Abramides DV, Zanchetta S, et al: Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case. Am J Med Genet A 152A:3164-3172 (2010).
    • (2010) Am J Med Genet A , vol.152 A , pp. 3164-3172
    • Petrin, A.L.1    Giacheti, C.M.2    Maximino, L.P.3    Abramides, D.V.4    Zanchetta, S.5
  • 70
    • 84884592445 scopus 로고    scopus 로고
    • Genic intolerance to functional variation and the interpretation of personal genomes
    • Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB: Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 9:e1003709 (2013).
    • (2013) PLoS Genet , vol.9 , pp. e1003709
    • Petrovski, S.1    Wang, Q.2    Heinzen, E.L.3    Allen, A.S.4    Goldstein, D.B.5
  • 71
    • 0033396331 scopus 로고    scopus 로고
    • Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels
    • Poliak S, Gollan L, Martinez R, Custer A, Einheber S, et al: Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron 24: 1037-1047 (1999).
    • (1999) Neuron , vol.24 , pp. 1037-1047
    • Poliak, S.1    Gollan, L.2    Martinez, R.3    Custer, A.4    Einheber, S.5
  • 72
    • 0141433266 scopus 로고    scopus 로고
    • Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1
    • Poliak S, Salomon D, Elhanany H, Sabanay H, Kiernan B, et al: Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1. J Cell Biol 162: 1149-1160 (2003).
    • (2003) J Cell Biol , vol.162 , pp. 1149-1160
    • Poliak, S.1    Salomon, D.2    Elhanany, H.3    Sabanay, H.4    Kiernan, B.5
  • 73
    • 84880003036 scopus 로고    scopus 로고
    • Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders
    • Poot M: Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. Mol Syndromol 4: 213-226 (2013).
    • (2013) Mol Syndromol , vol.4 , pp. 213-226
    • Poot, M.1
  • 74
    • 84906874671 scopus 로고    scopus 로고
    • A candidate gene association study further corroborates involvement of contactin genes in autism
    • Poot M: A candidate gene association study further corroborates involvement of contactin genes in autism. Mol Syndromol 5: 229-235 (2014).
    • (2014) Mol Syndromol , vol.5 , pp. 229-235
    • Poot, M.1
  • 75
    • 84875510076 scopus 로고    scopus 로고
    • Antisense may make sense of 1q44 deletions, seizures, and HNRNPU
    • Poot M, Kas MJ: Antisense may make sense of 1q44 deletions, seizures, and HNRNPU . Am J Med Genet A 161A:910-912 (2013).
    • (2013) Am J Med Genet A , vol.161 A , pp. 910-912
    • Poot, M.1    Kas, M.J.2
  • 76
    • 76549104658 scopus 로고    scopus 로고
    • Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
    • Poot M, Beyer V, Schwaab I, Damatova N, Van't Slot R, et al: Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 11: 81-89 (2010).
    • (2010) Neurogenetics , vol.11 , pp. 81-89
    • Poot, M.1    Beyer, V.2    Schwaab, I.3    Damatova, N.4    Vant Slot, R.5
  • 77
    • 83555168191 scopus 로고    scopus 로고
    • Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
    • Poot M, van der Smagt JJ, Brilstra EH, Bourgeron T: Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. Cytogenet Genome Res 135: 228-240 (2011).
    • (2011) Cytogenet Genome Res , vol.135 , pp. 228-240
    • Poot, M.1    Van Der Smagt, J.J.2    Brilstra, E.H.3    Bourgeron, T.4
  • 78
    • 84905632330 scopus 로고    scopus 로고
    • The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families
    • Prandini P, Pasquali A, Malerba G, Marostica A, Zusi C, et al: The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. Psychiatr Genet 22: 177-181 (2012).
    • (2012) Psychiatr Genet , vol.22 , pp. 177-181
    • Prandini, P.1    Pasquali, A.2    Malerba, G.3    Marostica, A.4    Zusi, C.5
  • 79
    • 84892805805 scopus 로고    scopus 로고
    • Shining a light on CNTNAP2 : Complex functions to complex disorders
    • Rodenas-Cuadrado P, Ho J, Vernes SC: Shining a light on CNTNAP2 : complex functions to complex disorders. Eur J Hum Genet 22: 171- 178 (2014).
    • (2014) Eur J Hum Genet , vol.22 , pp. 171-178
    • Rodenas-Cuadrado, P.1    Ho, J.2    Vernes, S.C.3
  • 80
    • 78649634946 scopus 로고    scopus 로고
    • Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
    • Rosenfeld JA, Ballif BC, Torchia BS, Sahoo T, Ravnan JB, et al: Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet Med 12: 694-702 (2010).
    • (2010) Genet Med , vol.12 , pp. 694-702
    • Rosenfeld, J.A.1    Ballif, B.C.2    Torchia, B.S.3    Sahoo, T.4    Ravnan, J.B.5
  • 81
    • 84904004407 scopus 로고    scopus 로고
    • Autism-associated neuroligin- 3 mutations commonly impair striatal circuits to boost repetitive behaviors
    • Rothwell PE, Fuccillo MV, Maxeiner S, Hayton SJ, Gokce O, et al: Autism-associated neuroligin- 3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell 158: 198-212 (2014).
    • (2014) Cell , vol.158 , pp. 198-212
    • Rothwell, P.E.1    Fuccillo, M.V.2    Maxeiner, S.3    Hayton, S.J.4    Gokce, O.5
  • 82
    • 80053892695 scopus 로고    scopus 로고
    • Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk
    • Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, et al: Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One 6:e26049 (2011).
    • (2011) PLoS One , vol.6 , pp. e26049
    • Salyakina, D.1    Cukier, H.N.2    Lee, J.M.3    Sacharow, S.4    Nations, L.D.5
  • 83
    • 84885750845 scopus 로고    scopus 로고
    • Defining the contribution of CNTNAP2 to autism susceptibility
    • Sampath S, Bhat S, Gupta S, O'Connor A, West AB, et al: Defining the contribution of CNTNAP2 to autism susceptibility. PLoS One 8:e77906 (2013).
    • (2013) PLoS One , vol.8 , pp. e77906
    • Sampath, S.1    Bhat, S.2    Gupta, S.3    Oconnor, A.4    West, A.B.5
  • 84
    • 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
  • 85
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, et al: De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485: 237-241 (2012).
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3    Murdoch, J.D.4    Raubeson, M.J.5
  • 86
    • 78751689926 scopus 로고    scopus 로고
    • Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines
    • Sarachana T, Zhou R, Chen G, Manji HK, Hu VW: Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med 2: 23 (2010).
    • (2010) Genome Med , vol.2 , pp. 23
    • Sarachana, T.1    Zhou, R.2    Chen, G.3    Manji, H.K.4    Hu, V.W.5
  • 87
    • 84858075191 scopus 로고    scopus 로고
    • A high density of human communication-associated genes in chromosome 7q31-q36: Differential expression in human and non-human primate cortices
    • Schneider E, Jensen LR, Farcas R, Kondova I, Bontrop RE, et al: A high density of human communication-associated genes in chromosome 7q31-q36: differential expression in human and non-human primate cortices. Cytogenet Genome Res 136: 97-106 (2012).
    • (2012) Cytogenet Genome Res , vol.136 , pp. 97-106
    • Schneider, E.1    Jensen, L.R.2    Farcas, R.3    Kondova, I.4    Bontrop, R.E.5
  • 88
    • 84899153582 scopus 로고    scopus 로고
    • Widespread differences in cortex DNA methylation of the 'language gene' CNTNAP2 between humans and chimpanzees
    • Schneider E, El Hajj N, Richter S, Roche-Santiago J, Nanda I, et al: Widespread differences in cortex DNA methylation of the 'language gene' CNTNAP2 between humans and chimpanzees. Epigenetics 9: 533-545 (2014).
    • (2014) Epigenetics , vol.9 , pp. 533-545
    • Schneider, E.1    El Hajj, N.2    Richter, S.3    Roche-Santiago, J.4    Nanda, I.5
  • 90
    • 84862648080 scopus 로고    scopus 로고
    • Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
    • Thierry G, Beneteau C, Pichon O, Flori E, Isidor B, et al: Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet Part A 158A:1633- 1640 (2012).
    • (2012) Am J Med Genet Part A , vol.158 A , pp. 1633-1640
    • Thierry, G.1    Beneteau, C.2    Pichon, O.3    Flori, E.4    Isidor, B.5
  • 91
    • 84874946486 scopus 로고    scopus 로고
    • Analysis of two language-related genes in autism: A case-control association study of FOXP2 and CNTNAP2
    • Toma C, Herv's A, Torrico B, Balmaña N, Salgado M, et al: Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2 . Psychiatr Genet 23: 82-85 (2013).
    • (2013) Psychiatr Genet , vol.23 , pp. 82-85
    • Toma, C.1    Hervs, A.2    Torrico, B.3    Balmaña, N.4    Salgado, M.5
  • 92
    • 0037092443 scopus 로고    scopus 로고
    • The neuronal adhesion protein TAG-1 is expressed by Schwann cells and oligodendrocytes and is localized to the juxtaparanodal region in myelinated fibers
    • Traka M, Dupree JL, Popko B, Karagogeos D: The neuronal adhesion protein TAG-1 is expressed by Schwann cells and oligodendrocytes and is localized to the juxtaparanodal region in myelinated fibers. J Neurosci 22: 3016-3024 (2002).
    • (2002) J Neurosci , vol.22 , pp. 3016-3024
    • Traka, M.1    Dupree, J.L.2    Popko, B.3    Karagogeos, D.4
  • 93
    • 0141544999 scopus 로고    scopus 로고
    • Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers
    • Traka M, Goutebroze L, Denisenko N, Bessa M, Nifli A, et al: Association of TAG-1 with Caspr2 is essential for the molecular organization of juxtaparanodal regions of myelinated fibers. J Cell Biol 162: 1161-1172 (2003).
    • (2003) J Cell Biol , vol.162 , pp. 1161-1172
    • Traka, M.1    Goutebroze, L.2    Denisenko, N.3    Bessa, M.4    Nifli, A.5
  • 94
    • 34249742515 scopus 로고    scopus 로고
    • Structure-function analysis of protein complexes involved in the molecular architecture of juxtaparanodal regions of myelinated fibers
    • Tzimourakas A, Giasemi S, Mouratidou M, Karagogeos D: Structure-function analysis of protein complexes involved in the molecular architecture of juxtaparanodal regions of myelinated fibers. Biotechnol J 2: 577-583 (2007).
    • (2007) Biotechnol J , vol.2 , pp. 577-583
    • Tzimourakas, A.1    Giasemi, S.2    Mouratidou, M.3    Karagogeos, D.4
  • 95
    • 84874547578 scopus 로고    scopus 로고
    • Insights on the functional impact of microRNAs present in autism-associated copy number variants
    • Vaishnavi V, Manikandan M, Tiwary BK, Munirajan AK: Insights on the functional impact of microRNAs present in autism-associated copy number variants. PLoS One 8:e56781 (2013).
    • (2013) PLoS One , vol.8 , pp. e56781
    • Vaishnavi, V.1    Manikandan, M.2    Tiwary, B.K.3    Munirajan, A.K.4
  • 97
    • 45249089227 scopus 로고    scopus 로고
    • Clinical and molecular characteristics of 1qter microdeletion syndrome: Delineating a critical region for corpus callosum agenesis/hypogenesis
    • van Bon BW, Koolen DA, Borgatti R, Magee A, Garcia-Minaur S, et al: Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis. J Med Genet 45: 346-354 (2008).
    • (2008) J Med Genet , vol.45 , pp. 346-354
    • Van Bon, B.W.1    Koolen, D.A.2    Borgatti, R.3    Magee, A.4    Garcia-Minaur, S.5
  • 98
    • 84855277684 scopus 로고    scopus 로고
    • Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
    • van Daalen, E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, et al: Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics 12: 315-323 (2011).
    • (2011) Neurogenetics , vol.12 , pp. 315-323
    • Van Daalen, E.1    Kemner, C.2    Verbeek, N.E.3    Van Der Zwaag, B.4    Dijkhuizen, T.5
  • 99
    • 0038278610 scopus 로고    scopus 로고
    • CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder
    • Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, et al: CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82: 1-9 (2003).
    • (2003) Genomics , vol.82 , pp. 1-9
    • Verkerk, A.J.1    Mathews, C.A.2    Joosse, M.3    Eussen, B.H.4    Heutink, P.5
  • 100
    • 57149090343 scopus 로고    scopus 로고
    • A functional genetic link between distinct developmental language disorders
    • Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, et al: A functional genetic link between distinct developmental language disorders. N Engl J Med 359: 2337-2345 (2008).
    • (2008) N Engl J Med , vol.359 , pp. 2337-2345
    • Vernes, S.C.1    Newbury, D.F.2    Abrahams, B.S.3    Winchester, L.4    Nicod, J.5
  • 101
    • 79956307286 scopus 로고    scopus 로고
    • Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population
    • Villanueva P, Newbury DF, Jara L, De Barbieri Z, Mirza G, et al: Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population. Eur J Hum Genet 19: 687-695 (2011).
    • (2011) Eur J Hum Genet , vol.19 , pp. 687-695
    • Villanueva, P.1    Newbury, D.F.2    Jara, L.3    De Barbieri, Z.4    Mirza, G.5
  • 102
    • 84900800634 scopus 로고    scopus 로고
    • Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
    • Wang X, Xu Q, Bey AL, Lee Y, Jiang Y: Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice. Mol Autism 5: 30 (2014).
    • (2014) Mol Autism , vol.5 , pp. 30
    • Wang, X.1    Xu, Q.2    Bey, A.L.3    Lee, Y.4    Jiang, Y.5
  • 103
    • 84857686531 scopus 로고    scopus 로고
    • Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
    • Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, et al: Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat 33: 64-72 (2012).
    • (2012) Hum Mutat , vol.33 , pp. 64-72
    • Whalen, S.1    Héron, D.2    Gaillon, T.3    Moldovan, O.4    Rossi, M.5
  • 105
    • 84890245861 scopus 로고    scopus 로고
    • Efficient strategy for detecting gene gene joint action and its application in schizophrenia
    • Won S, Kwon MS, Mattheisen M, Park S, Park C, et al: Efficient strategy for detecting gene gene joint action and its application in schizophrenia. Genet Epidemiol 38: 60-71 (2014).
    • (2014) Genet Epidemiol , vol.38 , pp. 60-71
    • Won, S.1    Kwon, M.S.2    Mattheisen, M.3    Park, S.4    Park, C.5
  • 106
    • 84898625089 scopus 로고    scopus 로고
    • Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech
    • Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, et al: Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord 5: 29 (2013).
    • (2013) J Neurodev Disord , vol.5 , pp. 29
    • Worthey, E.A.1    Raca, G.2    Laffin, J.J.3    Wilk, B.M.4    Harris, J.M.5
  • 107
    • 34247641061 scopus 로고    scopus 로고
    • Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
    • Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, et al: Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80: 994-1001 (2007).
    • (2007) Am J Hum Genet , vol.80 , pp. 994-1001
    • Zweier, C.1    Peippo, M.M.2    Hoyer, J.3    Sousa, S.4    Bottani, A.5
  • 108
    • 72149095158 scopus 로고    scopus 로고
    • CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkinslike mental retardation and determine the level of a common synaptic protein in Drosophila
    • Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, et al: CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkinslike mental retardation and determine the level of a common synaptic protein in Drosophila . Am J Hum Genet 85: 655-666 (2009).
    • (2009) Am J Hum Genet , vol.85 , pp. 655-666
    • Zweier, C.1    De Jong, E.K.2    Zweier, M.3    Orrico, A.4    Ousager, L.B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.