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Volumn 5, Issue 11, 2015, Pages 2453-2461

Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome

Author keywords

22q11 deletion syndrome; ABLIM1; BSN; Connectivity; Copy number variation; DGCR8; DIP2A; EXOC4; FMR1; Genetic architecture; ITM2C; LincRNA; MicroRNA; MYH10; MYH9; Next generation sequencing; Noncoding RNA; PCNT; Polygenic risk score; Postsynaptic density; PTPRG; Schizophrenia; SLITRK2; Synapse; ZDHHC5

Indexed keywords

UNTRANSLATED RNA; DGCR8 PROTEIN, HUMAN; LONG UNTRANSLATED RNA; RNA BINDING PROTEIN;

EID: 84947442427     PISSN: None     EISSN: 21601836     Source Type: Journal    
DOI: 10.1534/g3.115.021345     Document Type: Article
Times cited : (43)

References (76)
  • 1
    • 84883215137 scopus 로고    scopus 로고
    • Hippocampal malrotation is associated with chromosome 22q11.2 microdeletion
    • Andrade, D. M., T. Krings, E. W. Chow, T. R. Kiehl, and A. S. Bassett, 2013 Hippocampal malrotation is associated with chromosome 22q11.2 microdeletion. Can. J. Neurol. Sci. 40: 652-656.
    • (2013) Can. J. Neurol. Sci. , vol.40 , pp. 652-656
    • Andrade, D.M.1    Krings, T.2    Chow, E.W.3    Kiehl, T.R.4    Bassett, A.S.5
  • 2
    • 33751260533 scopus 로고    scopus 로고
    • Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia
    • Arinami, T., 2006 Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia. J. Hum. Genet. 51: 1037-1045.
    • (2006) J. Hum. Genet. , vol.51 , pp. 1037-1045
    • Arinami, T.1
  • 3
    • 84871413198 scopus 로고    scopus 로고
    • FMRP targets distinct mRNA sequence elements to regulate protein expression
    • Ascano, M., Jr, N. Mukherjee, P. Bandaru, J. B. Miller, J. D. Nusbaum et al., 2012 FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature 492: 382-386.
    • (2012) Nature , vol.492 , pp. 382-386
    • Ascano, M.1    Mukherjee, N.2    Bandaru, P.3    Miller, J.B.4    Nusbaum, J.D.5
  • 4
    • 84899717370 scopus 로고    scopus 로고
    • 22q11.2 deletion carriers and schizophrenia-associated novel variants
    • Balan, S., Y. Iwayama, T. Toyota, M. Toyoshima, M. Maekawa et al., 2014 22q11.2 deletion carriers and schizophrenia-associated novel variants. Br. J. Psychiatry 204: 398-399.
    • (2014) Br. J. Psychiatry , vol.204 , pp. 398-399
    • Balan, S.1    Iwayama, Y.2    Toyota, T.3    Toyoshima, M.4    Maekawa, M.5
  • 5
    • 84897108067 scopus 로고    scopus 로고
    • The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing
    • Barry, G., J. A. Briggs, D. P. Vanichkina, E. M. Poth, N. J. Beveridge et al., 2014 The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing. Mol. Psychiatry 19: 486-494.
    • (2014) Mol. Psychiatry , vol.19 , pp. 486-494
    • Barry, G.1    Briggs, J.A.2    Vanichkina, D.P.3    Poth, E.M.4    Beveridge, N.J.5
  • 7
    • 57049132697 scopus 로고    scopus 로고
    • Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    • Bassett, A. S., C. R. Marshall, A. C. Lionel, E. W. Chow, and S. W. Scherer, 2008 Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum. Mol. Genet. 17: 4045-4053.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 4045-4053
    • Bassett, A.S.1    Marshall, C.R.2    Lionel, A.C.3    Chow, E.W.4    Scherer, S.W.5
  • 8
    • 77955379566 scopus 로고    scopus 로고
    • Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease
    • Bassett, A. S., S. W. Scherer, and L. M. Brzustowicz, 2010 Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am. J. Psychiatry 167: 899-914.
    • (2010) Am. J. Psychiatry , vol.167 , pp. 899-914
    • Bassett, A.S.1    Scherer, S.W.2    Brzustowicz, L.M.3
  • 9
    • 78650680152 scopus 로고    scopus 로고
    • Characterization of the proteome, diseases and evolution of the human postsynaptic density
    • Bayes, A., L. N. van de Lagemaat, M. O. Collins, M. D. Croning, I. R. Whittle et al., 2011 Characterization of the proteome, diseases and evolution of the human postsynaptic density. Nat. Neurosci. 14: 19-21.
    • (2011) Nat. Neurosci. , vol.14 , pp. 19-21
    • Bayes, A.1    van de Lagemaat, L.N.2    Collins, M.O.3    Croning, M.D.4    Whittle, I.R.5
  • 10
    • 84859500144 scopus 로고    scopus 로고
    • MicroRNA dysregulation in schizophrenia
    • Beveridge, N. J., and M. J. Cairns, 2012 MicroRNA dysregulation in schizophrenia. Neurobiol. Dis. 46: 263-271.
    • (2012) Neurobiol. Dis. , vol.46 , pp. 263-271
    • Beveridge, N.J.1    Cairns, M.J.2
  • 11
    • 84876088727 scopus 로고    scopus 로고
    • miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome
    • Brzustowicz, L. M., and A. S. Bassett, 2012 miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome. Front. Genet. 3: 291.
    • (2012) Front. Genet , vol.3 , pp. 291
    • Brzustowicz, L.M.1    Bassett, A.S.2
  • 12
    • 84867223706 scopus 로고    scopus 로고
    • Functional outcomes of adults with 22q11.2 deletion syndrome
    • Butcher, N. J., E. W. Chow, G. Costain, D. Karas, A. Ho et al., 2012 Functional outcomes of adults with 22q11.2 deletion syndrome. Genet. Med. 14: 836-843.
    • (2012) Genet. Med. , vol.14 , pp. 836-843
    • Butcher, N.J.1    Chow, E.W.2    Costain, G.3    Karas, D.4    Ho, A.5
  • 13
    • 84887258206 scopus 로고    scopus 로고
    • Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications
    • Butcher, N., T. Kiehl, L. Hazrati, E. Chow, E. Rogaeva et al., 2013 Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. JAMA Neurol. 70: 1359-1366.
    • (2013) JAMA Neurol. , vol.70 , pp. 1359-1366
    • Butcher, N.1    Kiehl, T.2    Hazrati, L.3    Chow, E.4    Rogaeva, E.5
  • 14
    • 85018059136 scopus 로고    scopus 로고
    • Motor dysfunction in adults with hemizygous 22q11.2 deletions at high risk of early-onset Parkinson's disease
    • Butcher, N., C. Marras, M. Pondal, L. Christopher, A. Strafella et al., 2014 Motor dysfunction in adults with hemizygous 22q11.2 deletions at high risk of early-onset Parkinson's disease. Mov. Disord. 29(Suppl 1): S122.
    • (2014) Mov. Disord , vol.29 , pp. S122
    • Butcher, N.1    Marras, C.2    Pondal, M.3    Christopher, L.4    Strafella, A.5
  • 15
    • 84932098736 scopus 로고    scopus 로고
    • Response to clozapine in a clinically identifiable subtype of schizophrenia
    • Butcher, N., W. Fung, L. Fitzpatrick, A. Guna, D. Andrade et al., 2015 Response to clozapine in a clinically identifiable subtype of schizophrenia. Br. J. Psychiatry 206: 484-491.
    • (2015) Br. J. Psychiatry , vol.206 , pp. 484-491
    • Butcher, N.1    Fung, W.2    Fitzpatrick, L.3    Guna, A.4    Andrade, D.5
  • 16
    • 80052978224 scopus 로고    scopus 로고
    • Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses
    • Cabili, M. N., C. Trapnell, L. Goff, M. Koziol, B. Tazon-Vega et al., 2011 Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses. Genes Dev. 25: 1915-1927.
    • (2011) Genes Dev. , vol.25 , pp. 1915-1927
    • Cabili, M.N.1    Trapnell, C.2    Goff, L.3    Koziol, M.4    Tazon-Vega, B.5
  • 17
    • 84859319800 scopus 로고    scopus 로고
    • Computational techniques for human genome resequencing using mated gapped reads
    • Carnevali, P., J. Baccash, A. L. Halpern, I. Nazarenko, G. B. Nilsen et al., 2012 Computational techniques for human genome resequencing using mated gapped reads. J. Comput. Biol. 19: 279-292.
    • (2012) J. Comput. Biol. , vol.19 , pp. 279-292
    • Carnevali, P.1    Baccash, J.2    Halpern, A.L.3    Nazarenko, I.4    Nilsen, G.B.5
  • 18
  • 19
    • 84864403782 scopus 로고    scopus 로고
    • Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era
    • Costain, G., and A. S. Bassett, 2012 Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. Appl. Clin. Genet. 5: 1-18.
    • (2012) Appl. Clin. Genet. , vol.5 , pp. 1-18
    • Costain, G.1    Bassett, A.S.2
  • 20
    • 84887006110 scopus 로고    scopus 로고
    • Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays
    • Costain, G., A. C. Lionel, D. Merico, P. Forsythe, K. Russell et al., 2013 Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. Hum. Mol. Genet. 22: 4485-4501.
    • (2013) Hum. Mol. Genet. , vol.22 , pp. 4485-4501
    • Costain, G.1    Lionel, A.C.2    Merico, D.3    Forsythe, P.4    Russell, K.5
  • 21
    • 79960779323 scopus 로고    scopus 로고
    • FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
    • Darnell, J. C., S. J. Van Driesche, C. Zhang, K. Y. Hung, A. Mele et al., 2011 FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 146: 247-261.
    • (2011) Cell , vol.146 , pp. 247-261
    • Darnell, J.C.1    Van Driesche, S.J.2    Zhang, C.3    Hung, K.Y.4    Mele, A.5
  • 22
    • 84865727393 scopus 로고    scopus 로고
    • The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression
    • Derrien, T., R. Johnson, G. Bussotti, A. Tanzer, S. Djebali et al., 2012 The GENCODE v7 catalog of human long noncoding RNAs: analysis of their gene structure, evolution, and expression. Genome Res. 22: 1775-1789.
    • (2012) Genome Res. , vol.22 , pp. 1775-1789
    • Derrien, T.1    Johnson, R.2    Bussotti, G.3    Tanzer, A.4    Djebali, S.5
  • 23
    • 74949138753 scopus 로고    scopus 로고
    • Human genome sequencing using unchained base reads on selfassembling DNA nanoarrays
    • Drmanac, R., A. B. Sparks, M. J. Callow, A. L. Halpern, N. L. Burns et al., 2010 Human genome sequencing using unchained base reads on selfassembling DNA nanoarrays. Science 327: 78-81.
    • (2010) Science , vol.327 , pp. 78-81
    • Drmanac, R.1    Sparks, A.B.2    Callow, M.J.3    Halpern, A.L.4    Burns, N.L.5
  • 24
    • 84890053248 scopus 로고    scopus 로고
    • MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review
    • Forstner, A. J., F. Degenhardt, G. Schratt, and M. M. Nothen, 2013 MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Front. Mol. Neurosci. 6: 47.
    • (2013) Front. Mol. Neurosci. , vol.6 , pp. 47
    • Forstner, A.J.1    Degenhardt, F.2    Schratt, G.3    Nothen, M.M.4
  • 25
  • 26
    • 84872143942 scopus 로고    scopus 로고
    • Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
    • Fu, W., T. D. O'Connor, G. Jun, H. M. Kang, G. Abecasis et al., 2013 Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature 493: 216-220.
    • (2013) Nature , vol.493 , pp. 216-220
    • Fu, W.1    O'Connor, T.D.2    Jun, G.3    Kang, H.M.4    Abecasis, G.5
  • 27
    • 77955401776 scopus 로고    scopus 로고
    • Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome
    • Fung, W. L., R. McEvilly, J. Fong, C. Silversides, E. Chow et al., 2010 Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. Am. J. Psychiatry 167: 998.
    • (2010) Am. J. Psychiatry , vol.167 , pp. 998
    • Fung, W.L.1    McEvilly, R.2    Fong, J.3    Silversides, C.4    Chow, E.5
  • 28
    • 84931360375 scopus 로고    scopus 로고
    • Practical guidelines for managing adults with 22q11.2 deletion syndrome
    • Fung, W. L., N. J. Butcher, G. Costain, D. M. Andrade, E. Boot et al., 2015 Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet. Med. 17: 599-609.
    • (2015) Genet. Med. , vol.17 , pp. 599-609
    • Fung, W.L.1    Butcher, N.J.2    Costain, G.3    Andrade, D.M.4    Boot, E.5
  • 29
    • 84937637283 scopus 로고    scopus 로고
    • MicroRNA and posttranscriptional dysregulation in psychiatry
    • Geaghan, M., and M. J. Cairns, 2014 MicroRNA and posttranscriptional dysregulation in psychiatry. Biol. Psychiatry 78: 231-239.
    • (2014) Biol. Psychiatry , vol.78 , pp. 231-239
    • Geaghan, M.1    Cairns, M.J.2
  • 30
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1,092 human genomes
    • 1000 Genomes Project Consortium, Abecasis, G. R., A. Auton, L. D. Brooks, M. A. DePristo, R. M. Durbin et al., 2012 An integrated map of genetic variation from 1,092 human genomes. Nature 491: 56-65.
    • (2012) Nature , vol.491 , pp. 56-65
    • Abecasis, G.R.1    Auton, A.2    Brooks, L.D.3    DePristo, M.A.4    Durbin, R.M.5
  • 31
    • 80052269336 scopus 로고    scopus 로고
    • Increased exonic de novo mutation rate in individuals with schizophrenia
    • Girard, S. L., J. Gauthier, A. Noreau, L. Xiong, S. Zhou et al., 2011 Increased exonic de novo mutation rate in individuals with schizophrenia. Nat. Genet. 43: 860-863.
    • (2011) Nat. Genet. , vol.43 , pp. 860-863
    • Girard, S.L.1    Gauthier, J.2    Noreau, A.3    Xiong, L.4    Zhou, S.5
  • 32
    • 84867172514 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of genomic disorders and rare copynumber variants
    • Girirajan, S., J. A. Rosenfeld, B. P. Coe, S. Parikh, N. Friedman et al., 2012 Phenotypic heterogeneity of genomic disorders and rare copynumber variants. N. Engl. J. Med. 367: 1321-1331.
    • (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
  • 34
    • 84912544206 scopus 로고    scopus 로고
    • Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes
    • Guipponi, M., F. A. Santoni, V. Setola, C. Gehrig, M. Rotharmel et al., 2014 Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. PLoS One 9: e112745.
    • (2014) PLoS One , vol.9
    • Guipponi, M.1    Santoni, F.A.2    Setola, V.3    Gehrig, C.4    Rotharmel, M.5
  • 35
    • 84881193129 scopus 로고    scopus 로고
    • Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
    • Gulsuner, S., T. Walsh, A. C. Watts, M. K. Lee, A. M. Thornton et al., 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell 154: 518-529.
    • (2013) Cell , vol.154 , pp. 518-529
    • Gulsuner, S.1    Walsh, T.2    Watts, A.C.3    Lee, M.K.4    Thornton, A.M.5
  • 36
    • 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., J. E. Buizer-Voskamp, J. A. Vorstman, and R. A. Ophoff, 2011 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) Cytogenet. Genome Res. , vol.135 , pp. 174-202
    • Hochstenbach, R.1    Buizer-Voskamp, J.E.2    Vorstman, J.A.3    Ophoff, R.A.4
  • 37
    • 0001038967 scopus 로고
    • The generalization of Student's ratio
    • Hotelling, H., 1931 The generalization of Student's ratio. Ann. Math. Stat. 2: 360-378.
    • (1931) Ann. Math. Stat. , vol.2 , pp. 360-378
    • Hotelling, H.1
  • 38
    • 71049141822 scopus 로고    scopus 로고
    • Using the ratio of means as the effect size measure in combining results of microarray experiments
    • Hu, P., C. M. Greenwood, and J. Beyene, 2009 Using the ratio of means as the effect size measure in combining results of microarray experiments. BMC Syst. Biol. 3: 106.
    • (2009) BMC Syst. Biol. , vol.3 , pp. 106
    • Hu, P.1    Greenwood, C.M.2    Beyene, J.3
  • 39
    • 68449086236 scopus 로고    scopus 로고
    • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    • International Schizophrenia ConsortiumPurcell, S. M., N. R. Wray, J. L. Stone, P. M. Visscher, M. C. O'Donovan et al., 2009 Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460: 748-752.
    • (2009) Nature , vol.460 , pp. 748-752
    • Purcell, S.M.1    Wray, N.R.2    Stone, J.L.3    Visscher, P.M.4    O'Donovan, M.C.5
  • 40
    • 77952738956 scopus 로고    scopus 로고
    • 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
    • Karayiorgou, M., T. J. Simon, and J. A. Gogos, 2010 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat. Rev. Neurosci. 11: 402-416.
    • (2010) Nat. Rev. Neurosci , vol.11 , pp. 402-416
    • Karayiorgou, M.1    Simon, T.J.2    Gogos, J.A.3
  • 42
    • 84856225986 scopus 로고    scopus 로고
    • De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
    • Kirov, G., A. J. Pocklington, P. Holmans, D. Ivanov, M. Ikeda et al., 2012 De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol. Psychiatry 17: 142-153.
    • (2012) Mol. Psychiatry , vol.17 , pp. 142-153
    • Kirov, G.1    Pocklington, A.J.2    Holmans, P.3    Ivanov, D.4    Ikeda, M.5
  • 43
    • 84961382143 scopus 로고    scopus 로고
    • Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
    • Lowther, C., G. Costain, D. J. Stavropoulos, R. Melvin, C. K. Silversides et al., 2015 Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genet. Med. 17: 149-157.
    • (2015) Genet. Med. , vol.17 , pp. 149-157
    • Lowther, C.1    Costain, G.2    Stavropoulos, D.J.3    Melvin, R.4    Silversides, C.K.5
  • 44
    • 84901246368 scopus 로고    scopus 로고
    • De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
    • McCarthy, S. E., J. Gillis, M. Kramer, J. Lihm, S. Yoon et al., 2014 De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Mol. Psychiatry 19: 652-658.
    • (2014) Mol. Psychiatry , vol.19 , pp. 652-658
    • McCarthy, S.E.1    Gillis, J.2    Kramer, M.3    Lihm, J.4    Yoon, S.5
  • 45
    • 84873056524 scopus 로고    scopus 로고
    • Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
    • McDonald-McGinn, D. M., S. Fahiminiya, T. Revil, B. A. Nowakowska, J. Suhl et al., 2013 Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J. Med. Genet. 50: 80-90.
    • (2013) J. Med. Genet. , vol.50 , pp. 80-90
    • McDonald-McGinn, D.M.1    Fahiminiya, S.2    Revil, T.3    Nowakowska, B.A.4    Suhl, J.5
  • 46
    • 84911364655 scopus 로고    scopus 로고
    • MicroRNA dysregulation, gene networks and risk for schizophrenia in 22q11.2 deletion syndrome
    • Merico, D., G. Costain, N. J. Butcher, W. Warnica, L. Ogura et al., 2014 MicroRNA dysregulation, gene networks and risk for schizophrenia in 22q11.2 deletion syndrome. Front. Neurol. 5: 238.
    • (2014) Front. Neurol. , vol.5 , pp. 238
    • Merico, D.1    Costain, G.2    Butcher, N.J.3    Warnica, W.4    Ogura, L.5
  • 47
    • 84864927713 scopus 로고    scopus 로고
    • Emerging functional and mechanistic paradigms of mammalian long non-coding RNAs
    • Moran, V. A., R. J. Perera, and A. M. Khalil, 2012 Emerging functional and mechanistic paradigms of mammalian long non-coding RNAs. Nucleic Acids Res. 40: 6391-6400.
    • (2012) Nucleic Acids Res. , vol.40 , pp. 6391-6400
    • Moran, V.A.1    Perera, R.J.2    Khalil, A.M.3
  • 48
    • 78650446774 scopus 로고    scopus 로고
    • Altered microRNA expression profiles in postmortem brain samples from individuals with schizophrenia and bipolar disorder
    • Moreau, M. P., S. E. Bruse, R. David-Rus, S. Buyske, and L. M. Brzustowicz, 2011 Altered microRNA expression profiles in postmortem brain samples from individuals with schizophrenia and bipolar disorder. Biol. Psychiatry 69: 188-193.
    • (2011) Biol. Psychiatry , vol.69 , pp. 188-193
    • Moreau, M.P.1    Bruse, S.E.2    David-Rus, R.3    Buyske, S.4    Brzustowicz, L.M.5
  • 49
    • 84918561548 scopus 로고    scopus 로고
    • MicroRNAs in copy number variants in schizophrenia: misregulation of genome-wide gene expression programs
    • Morrow, E. M., 2015 MicroRNAs in copy number variants in schizophrenia: misregulation of genome-wide gene expression programs. Biol. Psychiatry 77: 93-94.
    • (2015) Biol. Psychiatry , vol.77 , pp. 93-94
    • Morrow, E.M.1
  • 50
    • 84864911042 scopus 로고    scopus 로고
    • Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
    • Need, A. C., J. P. McEvoy, M. Gennarelli, E. L. Heinzen, D. Ge et al., 2012 Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. Am. J. Hum. Genet. 91: 303-312.
    • (2012) Am. J. Hum. Genet. , vol.91 , pp. 303-312
    • Need, A.C.1    McEvoy, J.P.2    Gennarelli, M.3    Heinzen, E.L.4    Ge, D.5
  • 51
    • 84923077204 scopus 로고    scopus 로고
    • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
    • Pathway Analysis Subgroup of Psychiatric Genomics Consortium Network, 2015 Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat. Neurosci. 18: 199-209.
    • (2015) Nat. Neurosci. , vol.18 , pp. 199-209
  • 52
    • 79958190497 scopus 로고    scopus 로고
    • Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome
    • Philip, N., and A. Bassett, 2011 Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav. Genet. 41: 403-412.
    • (2011) Behav. Genet. , vol.41 , pp. 403-412
    • Philip, N.1    Bassett, A.2
  • 53
    • 84899918742 scopus 로고    scopus 로고
    • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
    • Pinto, D., E. Delaby, D. Merico, M. Barbosa, A. Merikangas et al., 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am. J. Hum. Genet. 94: 677-694.
    • (2014) Am. J. Hum. Genet. , vol.94 , pp. 677-694
    • Pinto, D.1    Delaby, E.2    Merico, D.3    Barbosa, M.4    Merikangas, A.5
  • 54
    • 79960837617 scopus 로고    scopus 로고
    • Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
    • Piton, A., J. Gauthier, F. F. Hamdan, R. G. Lafreniere, Y. Yang et al., 2011 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol. Psychiatry 16: 867-880.
    • (2011) Mol. Psychiatry , vol.16 , pp. 867-880
    • Piton, A.1    Gauthier, J.2    Hamdan, F.F.3    Lafreniere, R.G.4    Yang, Y.5
  • 55
    • 44149113011 scopus 로고    scopus 로고
    • Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
    • Prasad, S. E., S. Howley, and K. C. Murphy, 2008 Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Dev. Disabil. Res. Rev. 14: 26-34.
    • (2008) Dev. Disabil. Res. Rev. , vol.14 , pp. 26-34
    • Prasad, S.E.1    Howley, S.2    Murphy, K.C.3
  • 56
    • 84893904007 scopus 로고    scopus 로고
    • A polygenic burden of rare disruptive mutations in schizophrenia
    • Purcell, S. M., J. L. Moran, M. Fromer, D. Ruderfer, N. Solovieff et al., 2014 A polygenic burden of rare disruptive mutations in schizophrenia. Nature 506: 185-190.
    • (2014) Nature , vol.506 , pp. 185-190
    • Purcell, S.M.1    Moran, J.L.2    Fromer, M.3    Ruderfer, D.4    Solovieff, N.5
  • 57
    • 84946013175 scopus 로고    scopus 로고
    • lncRNAdb v2.0: expanding the reference database for functional long noncoding RNAs
    • Quek, X. C., D. W. Thomson, J. L. Maag, N. Bartonicek, B. Signal et al., 2015 lncRNAdb v2.0: expanding the reference database for functional long noncoding RNAs. Nucleic Acids Res. 43: D168-D173.
    • (2015) Nucleic Acids Res , vol.43 , pp. D168-D173
    • Quek, X.C.1    Thomson, D.W.2    Maag, J.L.3    Bartonicek, N.4    Signal, B.5
  • 58
  • 59
    • 84904804929 scopus 로고    scopus 로고
    • Biological insights from 108 schizophrenia-associated genetic loci
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium, 2014 Biological insights from 108 schizophrenia-associated genetic loci. Nature 511: 421-427.
    • (2014) Nature , vol.511 , pp. 421-427
  • 60
    • 84901937317 scopus 로고    scopus 로고
    • Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
    • Schneider, M., M. Debbane, A. S. Bassett, E. W. Chow, W. L. Fung et al., 2014 Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am. J. Psychiatry 171: 627-639.
    • (2014) Am. J. Psychiatry , vol.171 , pp. 627-639
    • Schneider, M.1    Debbane, M.2    Bassett, A.S.3    Chow, E.W.4    Fung, W.L.5
  • 61
    • 79953278448 scopus 로고    scopus 로고
    • Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex
    • Schofield, C. M., R. Hsu, A. J. Barker, C. C. Gertz, R. Blelloch et al., 2011 Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex. Neural Dev. 6: 11.
    • (2011) Neural Dev. , vol.6 , pp. 11
    • Schofield, C.M.1    Hsu, R.2    Barker, A.J.3    Gertz, C.C.4    Blelloch, R.5
  • 62
    • 84866162425 scopus 로고    scopus 로고
    • Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways
    • Silversides, C. K., A. C. Lionel, G. Costain, D. Merico, O. Migita et al., 2012 Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet. 8: e1002843.
    • (2012) PLoS Genet. , vol.8
    • Silversides, C.K.1    Lionel, A.C.2    Costain, G.3    Merico, D.4    Migita, O.5
  • 63
    • 77949831756 scopus 로고    scopus 로고
    • Structural variation in the human genome and its role in disease
    • Stankiewicz, P., and J. R. Lupski, 2010 Structural variation in the human genome and its role in disease. Annu. Rev. Med. 61: 437-455.
    • (2010) Annu. Rev. Med. , vol.61 , pp. 437-455
    • Stankiewicz, P.1    Lupski, J.R.2
  • 64
    • 43949124669 scopus 로고    scopus 로고
    • Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
    • Stark, K. L., B. Xu, A. Bagchi, W. S. Lai, H. Liu et al., 2008 Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat. Genet. 40: 751-760.
    • (2008) Nat. Genet. , vol.40 , pp. 751-760
    • Stark, K.L.1    Xu, B.2    Bagchi, A.3    Lai, W.S.4    Liu, H.5
  • 65
    • 84908391826 scopus 로고    scopus 로고
    • Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences
    • Suhl, J. A., P. Chopra, B. R. Anderson, G. J. Bassell, and S. T. Warren, 2014 Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences. Hum. Mol. Genet. 23: 5479-5491.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 5479-5491
    • Suhl, J.A.1    Chopra, P.2    Anderson, B.R.3    Bassell, G.J.4    Warren, S.T.5
  • 66
    • 78951482163 scopus 로고    scopus 로고
    • Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome
    • Swaby, J. A., C. K. Silversides, S. C. Bekeschus, S. Piran, E. N. Oechslin et al., 2011 Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. Am. J. Cardiol. 107: 466-471.
    • (2011) Am. J. Cardiol. , vol.107 , pp. 466-471
    • Swaby, J.A.1    Silversides, C.K.2    Bekeschus, S.C.3    Piran, S.4    Oechslin, E.N.5
  • 67
    • 84878647965 scopus 로고    scopus 로고
    • Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families
    • Timms, A. E., M. O. Dorschner, J. Wechsler, K. Y. Choi, R. Kirkwood et al., 2013 Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. JAMA Psychiatry 70: 582-590.
    • (2013) JAMA Psychiatry , vol.70 , pp. 582-590
    • Timms, A.E.1    Dorschner, M.O.2    Wechsler, J.3    Choi, K.Y.4    Kirkwood, R.5
  • 68
    • 84871935489 scopus 로고    scopus 로고
    • Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion
    • Vorstman, J. A., E. J. Breetvelt, K. I. Thode, E. W. Chow, and A. S. Bassett, 2013 Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr. Res. 143: 55-59.
    • (2013) Schizophr. Res. , vol.143 , pp. 55-59
    • Vorstman, J.A.1    Breetvelt, E.J.2    Thode, K.I.3    Chow, E.W.4    Bassett, A.S.5
  • 69
    • 77956534324 scopus 로고    scopus 로고
    • ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
    • Wang, K., M. Li, and H. Hakonarson, 2010 ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38: e164.
    • (2010) Nucleic Acids Res. , vol.38
    • Wang, K.1    Li, M.2    Hakonarson, H.3
  • 70
    • 84918558417 scopus 로고    scopus 로고
    • Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets
    • Warnica, W., D. Merico, G. Costain, S. E. Alfred, J. Wei et al., 2015 Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. Biol. Psychiatry 77: 158-166.
    • (2015) Biol. Psychiatry , vol.77 , pp. 158-166
    • Warnica, W.1    Merico, D.2    Costain, G.3    Alfred, S.E.4    Wei, J.5
  • 72
    • 84923276179 scopus 로고    scopus 로고
    • RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
    • Xiong, H. Y., B. Alipanahi, L. J. Lee, H. Bretschneider, D. Merico et al., 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science 347: 1254806.
    • (2015) Science , vol.347 , pp. 1254806
    • Xiong, H.Y.1    Alipanahi, B.2    Lee, L.J.3    Bretschneider, H.4    Merico, D.5
  • 73
    • 77952583640 scopus 로고    scopus 로고
    • MicroRNAs in psychiatric and neurodevelopmental disorders
    • Xu, B., M. Karayiorgou, and J. A. Gogos, 2010 MicroRNAs in psychiatric and neurodevelopmental disorders. Brain Res. 1338: 78-88.
    • (2010) Brain Res. , vol.1338 , pp. 78-88
    • Xu, B.1    Karayiorgou, M.2    Gogos, J.A.3
  • 74
    • 84870489243 scopus 로고    scopus 로고
    • De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
    • Xu, B., I. Ionita-Laza, J. L. Roos, B. Boone, S. Woodrick et al., 2012 De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. Nat. Genet. 44: 1365-1369.
    • (2012) Nat. Genet. , vol.44 , pp. 1365-1369
    • Xu, B.1    Ionita-Laza, I.2    Roos, J.L.3    Boone, B.4    Woodrick, S.5
  • 75
    • 84922628604 scopus 로고    scopus 로고
    • Whole-genome sequencing of quartet families with autism spectrum disorder
    • Yuen, R. K., B. Thiruvahindrapuram, D. Merico, S. Walker, K. Tammimies et al., 2015 Whole-genome sequencing of quartet families with autism spectrum disorder. Nat. Med. 21: 185-191.
    • (2015) Nat. Med. , vol.21 , pp. 185-191
    • Yuen, R.K.1    Thiruvahindrapuram, B.2    Merico, D.3    Walker, S.4    Tammimies, K.5


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