메뉴 건너뛰기




Volumn 19, Issue 11, 2016, Pages 1397-1407

The road to precision psychiatry: Translating genetics into disease mechanisms

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE METHYLTRANSFERASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; PSYCHOTROPIC AGENT; TRANSCRIPTOME;

EID: 84994130171     PISSN: 10976256     EISSN: 15461726     Source Type: Journal    
DOI: 10.1038/nn.4409     Document Type: Review
Times cited : (156)

References (149)
  • 1
    • 84933279742 scopus 로고    scopus 로고
    • Meta-analysis of the heritability of human traits based on fifty years of twin studies
    • Polderman, T.J.C. et al. Meta-analysis of the heritability of human traits based on fifty years of twin studies. Nat. Genet. 47, 702-709 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 702-709
    • Polderman, T.J.C.1
  • 2
    • 84863980709 scopus 로고    scopus 로고
    • Genetic architectures of psychiatric disorders: The emerging picture and its implications
    • Sullivan, P.F., Daly, M.J. & O'Donovan, M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat. Rev. Genet. 13, 537-551 (2012).
    • (2012) Nat. Rev. Genet. , vol.13 , pp. 537-551
    • Sullivan, P.F.1    Daly, M.J.2    O'Donovan, M.3
  • 3
    • 84942279459 scopus 로고    scopus 로고
    • Genetics and genomics of psychiatric disease
    • Geschwind, D.H. & Flint, J. Genetics and genomics of psychiatric disease. Science 349, 1489-1494 (2015).
    • (2015) Science , vol.349 , pp. 1489-1494
    • Geschwind, D.H.1    Flint, J.2
  • 4
    • 84901608878 scopus 로고    scopus 로고
    • Large-scale genomics unveils the genetic architecture of psychiatric disorders
    • Gratten, J., Wray, N.R., Keller, M.C. & Visscher, P.M. Large-scale genomics unveils the genetic architecture of psychiatric disorders. Nat. Neurosci. 17, 782-790 (2014).
    • (2014) Nat. Neurosci. , vol.17 , pp. 782-790
    • Gratten, J.1    Wray, N.R.2    Keller, M.C.3    Visscher, P.M.4
  • 5
    • 84901596062 scopus 로고    scopus 로고
    • Genome-scale neurogenetics: Methodology and meaning
    • McCarroll, S.A., Feng, G. & Hyman, S.E. Genome-scale neurogenetics: methodology and meaning. Nat. Neurosci. 17, 756-763 (2014).
    • (2014) Nat. Neurosci. , vol.17 , pp. 756-763
    • McCarroll, S.A.1    Feng, G.2    Hyman, S.E.3
  • 6
    • 84884671572 scopus 로고    scopus 로고
    • What psychiatric genetics has taught us about the nature of psychiatric illness and what is left to learn
    • Kendler, K.S. What psychiatric genetics has taught us about the nature of psychiatric illness and what is left to learn. Mol. Psychiatry 18, 1058-1066 (2013).
    • (2013) Mol. Psychiatry , vol.18 , pp. 1058-1066
    • Kendler, K.S.1
  • 7
    • 84898786106 scopus 로고    scopus 로고
    • Statistical power and significance testing in large-scale genetic studies
    • Sham, P.C. & Purcell, S.M. Statistical power and significance testing in large-scale genetic studies. Nat. Rev. Genet. 15, 335-346 (2014).
    • (2014) Nat. Rev. Genet. , vol.15 , pp. 335-346
    • Sham, P.C.1    Purcell, S.M.2
  • 8
    • 84893438633 scopus 로고    scopus 로고
    • The genetics of major depression
    • Flint, J. & Kendler, K.S. The genetics of major depression. Neuron 81, 484-503 (2014).
    • (2014) Neuron , vol.81 , pp. 484-503
    • Flint, J.1    Kendler, K.S.2
  • 9
    • 84924726491 scopus 로고    scopus 로고
    • The molecular genetic architecture of attention deficit hyperactivity disorder
    • Hawi, Z. et al. The molecular genetic architecture of attention deficit hyperactivity disorder. Mol. Psychiatry 20, 289-297 (2015).
    • (2015) Mol. Psychiatry , vol.20 , pp. 289-297
    • Hawi, Z.1
  • 11
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio, T.A. et al. Finding the missing heritability of complex diseases. Nature 461, 747-753 (2009).
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1
  • 12
    • 84904804929 scopus 로고    scopus 로고
    • Biological insights from 108 schizophrenia-associated genetic loci
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium
    • Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421-427 (2014).
    • (2014) Nature , vol.511 , pp. 421-427
  • 13
    • 84885020424 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies 13 new risk loci for schizophrenia
    • Ripke, S. et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat. Genet. 45, 1150-1159 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 1150-1159
    • Ripke, S.1
  • 14
    • 84942113437 scopus 로고    scopus 로고
    • Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
    • Sanders, S.J. et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87, 1215-1233 (2015).
    • (2015) Neuron , vol.87 , pp. 1215-1233
    • Sanders, S.J.1
  • 15
    • 84912101541 scopus 로고    scopus 로고
    • The contribution of de novo coding mutations to autism spectrum disorder
    • Iossifov, I. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014).
    • (2014) Nature , vol.515 , pp. 216-221
    • Iossifov, I.1
  • 16
    • 80053385384 scopus 로고    scopus 로고
    • Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4
    • Psychiatric GWAS Consortium Bipolar Disorder Working Group
    • Psychiatric GWAS Consortium Bipolar Disorder Working Group. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat. Genet. 43, 977-983 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 977-983
  • 17
    • 84940764107 scopus 로고    scopus 로고
    • Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder
    • Tammimies, K. et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. J. Am. Med. Assoc. 314, 895-903 (2015).
    • (2015) J. Am. Med. Assoc. , vol.314 , pp. 895-903
    • Tammimies, K.1
  • 18
    • 84922394049 scopus 로고    scopus 로고
    • A framework for the interpretation of de novo mutation in human disease
    • Samocha, K.E. et al. A framework for the interpretation of de novo mutation in human disease. Nat. Genet. 46, 944-950 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 944-950
    • Samocha, K.E.1
  • 19
    • 84863116742 scopus 로고    scopus 로고
    • A systematic survey of loss-of-function variants in human protein-coding genes
    • MacArthur, D.G. et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 335, 823-828 (2012).
    • (2012) Science , vol.335 , pp. 823-828
    • MacArthur, D.G.1
  • 20
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur, D.G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469-476 (2014).
    • (2014) Nature , vol.508 , pp. 469-476
    • MacArthur, D.G.1
  • 21
    • 80052964856 scopus 로고    scopus 로고
    • Understanding the contribution of synonymous mutations to human disease
    • Sauna, Z.E. & Kimchi-Sarfaty, C. Understanding the contribution of synonymous mutations to human disease. Nat. Rev. Genet. 12, 683-691 (2011).
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 683-691
    • Sauna, Z.E.1    Kimchi-Sarfaty, C.2
  • 22
    • 80051968181 scopus 로고    scopus 로고
    • Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
    • Cooper, G.M. & Shendure, J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12, 628-640 (2011).
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 628-640
    • Cooper, G.M.1    Shendure, J.2
  • 23
    • 84982253941 scopus 로고    scopus 로고
    • Analysis of protein-coding genetic variation in 60,706 humans
    • Lek, M. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536, 285-291 (2016).
    • (2016) Nature , vol.536 , pp. 285-291
    • Lek, M.1
  • 24
    • 84961392741 scopus 로고    scopus 로고
    • Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
    • Robinson, E.B. et al. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population. Nat. Genet. 48, 552-555 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 552-555
    • Robinson, E.B.1
  • 25
    • 84948741313 scopus 로고    scopus 로고
    • The PsychENCODE project
    • Akbarian, S. et al. The PsychENCODE project. Nat. Neurosci. 18, 1707-1712 (2015).
    • (2015) Nat. Neurosci. , vol.18 , pp. 1707-1712
    • Akbarian, S.1
  • 26
    • 82455173871 scopus 로고    scopus 로고
    • Evaluating methods for combining rare variant data in pathway-based tests of genetic association
    • Petersen, A. et al. Evaluating methods for combining rare variant data in pathway-based tests of genetic association. BMC Proc. 5 (Suppl. 9), S48 (2011).
    • (2011) BMC Proc. , vol.5 , pp. S48
    • Petersen, A.1
  • 28
    • 84858434210 scopus 로고    scopus 로고
    • CNVs: Harbingers of a rare variant revolution in psychiatric genetics
    • Malhotra, D. & Sebat, J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 148, 1223-1241 (2012).
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 29
    • 84962890386 scopus 로고    scopus 로고
    • Advancing the understanding of autism disease mechanisms through genetics
    • de la Torre-Ubieta, L., Won, H., Stein, J.L. & Geschwind, D.H. Advancing the understanding of autism disease mechanisms through genetics. Nat. Med. 22, 345-361 (2016).
    • (2016) Nat. Med. , vol.22 , pp. 345-361
    • De La Torre-Ubieta, L.1    Won, H.2    Stein, J.L.3    Geschwind, D.H.4
  • 30
    • 84953839767 scopus 로고    scopus 로고
    • Mice with Shank3 mutations associated with ASD and schizophrenia display both shared and distinct defects
    • Zhou, Y. et al. Mice with Shank3 mutations associated with ASD and schizophrenia display both shared and distinct defects. Neuron 89, 147-162 (2016).
    • (2016) Neuron , vol.89 , pp. 147-162
    • Zhou, Y.1
  • 31
    • 84903649108 scopus 로고    scopus 로고
    • Copy number variation in schizophrenia in Sweden
    • Szatkiewicz, J.P. et al. Copy number variation in schizophrenia in Sweden. Mol. Psychiatry 19, 762-773 (2014).
    • (2014) Mol. Psychiatry , vol.19 , pp. 762-773
    • Szatkiewicz, J.P.1
  • 32
    • 84888293604 scopus 로고    scopus 로고
    • Copy number variation at 22q11.2: From rare variants to common mechanisms of developmental neuropsychiatric disorders
    • Hiroi, N. et al. Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. Mol. Psychiatry 18, 1153-1165 (2013).
    • (2013) Mol. Psychiatry , vol.18 , pp. 1153-1165
    • Hiroi, N.1
  • 33
    • 16944364326 scopus 로고    scopus 로고
    • Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
    • Cook, E.H. Jr. et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am. J. Hum. Genet. 60, 928-934 (1997).
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 928-934
    • Cook, E.H.1
  • 34
    • 84941931766 scopus 로고    scopus 로고
    • Common alleles contribute to schizophrenia in CNV carriers
    • Tansey, K.E. et al. Common alleles contribute to schizophrenia in CNV carriers. Mol. Psychiatry 21, 1085-1089 (2016).
    • (2016) Mol. Psychiatry , vol.21 , pp. 1085-1089
    • Tansey, K.E.1
  • 35
    • 84904635209 scopus 로고    scopus 로고
    • Disruptive CHD8 mutations define a subtype of autism early in development
    • Bernier, R. et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158, 263-276 (2014).
    • (2014) Cell , vol.158 , pp. 263-276
    • Bernier, R.1
  • 36
    • 84892620880 scopus 로고    scopus 로고
    • CNVs conferring risk of autism or schizophrenia affect cognition in controls
    • Stefansson, H. et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 505, 361-366 (2014).
    • (2014) Nature , vol.505 , pp. 361-366
    • Stefansson, H.1
  • 37
    • 84961348340 scopus 로고    scopus 로고
    • The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
    • Maillard, A.M. et al. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Mol. Psychiatry 20, 140-147 (2015).
    • (2015) Mol. Psychiatry , vol.20 , pp. 140-147
    • Maillard, A.M.1
  • 38
    • 80051684615 scopus 로고    scopus 로고
    • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
    • Sawcer, S. et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 476, 214-219 (2011).
    • (2011) Nature , vol.476 , pp. 214-219
    • Sawcer, S.1
  • 39
    • 84876296688 scopus 로고    scopus 로고
    • Identification of risk loci with shared effects on five major psychiatric disorders: A genome-wide analysis
    • Cross-Disorder Group of the Psychiatric Genomics Consortium
    • Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381, 1371-1379 (2013).
    • (2013) Lancet , vol.381 , pp. 1371-1379
  • 40
    • 84958074030 scopus 로고    scopus 로고
    • Schizophrenia risk from complex variation of complement component 4
    • Sekar, A. et al. Schizophrenia risk from complex variation of complement component 4. Nature 530, 177-183 (2016).
    • (2016) Nature , vol.530 , pp. 177-183
    • Sekar, A.1
  • 41
    • 70249088327 scopus 로고    scopus 로고
    • Genomic views of distant-acting enhancers
    • Visel, A., Rubin, E.M. & Pennacchio, L.A. Genomic views of distant-acting enhancers. Nature 461, 199-205 (2009).
    • (2009) Nature , vol.461 , pp. 199-205
    • Visel, A.1    Rubin, E.M.2    Pennacchio, L.A.3
  • 42
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-associated variation in regulatory DNA
    • Maurano, M.T. et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190-1195 (2012).
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1
  • 43
    • 84865777825 scopus 로고    scopus 로고
    • Linking disease associations with regulatory information in the human genome
    • Schaub, M.A., Boyle, A.P., Kundaje, A., Batzoglou, S. & Snyder, M. Linking disease associations with regulatory information in the human genome. Genome Res. 22, 1748-1759 (2012).
    • (2012) Genome Res. , vol.22 , pp. 1748-1759
    • Schaub, M.A.1    Boyle, A.P.2    Kundaje, A.3    Batzoglou, S.4    Snyder, M.5
  • 44
    • 84920733366 scopus 로고    scopus 로고
    • Genomic perspectives of transcriptional regulation in forebrain development
    • Nord, A.S., Pattabiraman, K., Visel, A. & Rubenstein, J.L.R. Genomic perspectives of transcriptional regulation in forebrain development. Neuron 85, 27-47 (2015).
    • (2015) Neuron , vol.85 , pp. 27-47
    • Nord, A.S.1    Pattabiraman, K.2    Visel, A.3    Rubenstein, J.L.R.4
  • 45
    • 79955583542 scopus 로고    scopus 로고
    • Mapping and analysis of chromatin state dynamics in nine human cell types
    • Ernst, J. et al. Mapping and analysis of chromatin state dynamics in nine human cell types. Nature 473, 43-49 (2011).
    • (2011) Nature , vol.473 , pp. 43-49
    • Ernst, J.1
  • 46
    • 84923362619 scopus 로고    scopus 로고
    • Integrative analysis of 111 reference human epigenomes
    • Kundaje, A. et al. Integrative analysis of 111 reference human epigenomes. Nature 518, 317-330 (2015).
    • (2015) Nature , vol.518 , pp. 317-330
    • Kundaje, A.1
  • 47
    • 84929001104 scopus 로고    scopus 로고
    • The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
    • GTEx Consortium. Human genomics
    • GTEx Consortium. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 348, 648-660 (2015).
    • (2015) Science , vol.348 , pp. 648-660
  • 48
    • 84865800494 scopus 로고    scopus 로고
    • The long-range interaction landscape of gene promoters
    • Sanyal, A., Lajoie, B.R., Jain, G. & Dekker, J. The long-range interaction landscape of gene promoters. Nature 489, 109-113 (2012).
    • (2012) Nature , vol.489 , pp. 109-113
    • Sanyal, A.1    Lajoie, B.R.2    Jain, G.3    Dekker, J.4
  • 49
    • 84963601453 scopus 로고    scopus 로고
    • Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin
    • Whalen, S., Truty, R.M. & Pollard, K.S. Enhancer-promoter interactions are encoded by complex genomic signatures on looping chromatin. Nat. Genet. 48, 488-496 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 488-496
    • Whalen, S.1    Truty, R.M.2    Pollard, K.S.3
  • 50
    • 70349873824 scopus 로고    scopus 로고
    • Comprehensive mapping of long-range interactions reveals folding principles of the human genome
    • Lieberman-Aiden, E. et al. Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science 326, 289-293 (2009).
    • (2009) Science , vol.326 , pp. 289-293
    • Lieberman-Aiden, E.1
  • 51
    • 84890432056 scopus 로고    scopus 로고
    • Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations
    • Zhang, Y. et al. Chromatin connectivity maps reveal dynamic promoter-enhancer long-range associations. Nature 504, 306-310 (2013).
    • (2013) Nature , vol.504 , pp. 306-310
    • Zhang, Y.1
  • 52
    • 65549147665 scopus 로고    scopus 로고
    • Neural mechanisms of a genome-wide supported psychosis variant
    • Esslinger, C. et al. Neural mechanisms of a genome-wide supported psychosis variant. Science 324, 605 (2009).
    • (2009) Science , vol.324 , pp. 605
    • Esslinger, C.1
  • 53
    • 84951969846 scopus 로고    scopus 로고
    • Progress and promise in understanding the genetic basis of common diseases
    • Price, A.L., Spencer, C.C.A. & Donnelly, P. Progress and promise in understanding the genetic basis of common diseases. Proc. Biol. Sci. 282, 20151684 (2015).
    • (2015) Proc. Biol. Sci. , vol.282 , pp. 20151684
    • Price, A.L.1    Spencer, C.C.A.2    Donnelly, P.3
  • 54
    • 52949091164 scopus 로고    scopus 로고
    • Prediction of individual genetic risk of complex disease
    • Wray, N.R., Goddard, M.E. & Visscher, P.M. Prediction of individual genetic risk of complex disease. Curr. Opin. Genet. Dev. 18, 257-263 (2008).
    • (2008) Curr. Opin. Genet. Dev. , vol.18 , pp. 257-263
    • Wray, N.R.1    Goddard, M.E.2    Visscher, P.M.3
  • 55
    • 84938294188 scopus 로고    scopus 로고
    • Smoking and schizophrenia in population cohorts of Swedish women and men: A prospective co-relative control study
    • Kendler, K.S., Lönn, S.L., Sundquist, J. & Sundquist, K. Smoking and schizophrenia in population cohorts of Swedish women and men: a prospective co-relative control study. Am. J. Psychiatry 172, 1092-1100 (2015).
    • (2015) Am. J. Psychiatry , vol.172 , pp. 1092-1100
    • Kendler, K.S.1    Lönn, S.L.2    Sundquist, J.3    Sundquist, K.4
  • 56
    • 84943531741 scopus 로고    scopus 로고
    • Early cannabis use, polygenic risk score for schizophrenia and brain maturation in adolescence
    • French, L. et al. Early cannabis use, polygenic risk score for schizophrenia and brain maturation in adolescence. JAMA Psychiatry 72, 1002-1011 (2015).
    • (2015) JAMA Psychiatry , vol.72 , pp. 1002-1011
    • French, L.1
  • 57
    • 84923946495 scopus 로고    scopus 로고
    • LD score regression distinguishes confounding from polygenicity in genome-wide association studies
    • Bulik-Sullivan, B.K. et al. LD score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291-295 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 291-295
    • Bulik-Sullivan, B.K.1
  • 58
    • 85000692305 scopus 로고    scopus 로고
    • An atlas of genetic correlations across human diseases and traits
    • Bulik-Sullivan, B. et al. An atlas of genetic correlations across human diseases and traits. Nat. Genet. 47, 1236-1241 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 1236-1241
    • Bulik-Sullivan, B.1
  • 59
    • 84919666255 scopus 로고    scopus 로고
    • Assessing the utility of intermediate phenotypes for genetic mapping of psychiatric disease
    • Flint, J., Timpson, N. & Munafò, M. Assessing the utility of intermediate phenotypes for genetic mapping of psychiatric disease. Trends Neurosci. 37, 733-741 (2014).
    • (2014) Trends Neurosci. , vol.37 , pp. 733-741
    • Flint, J.1    Timpson, N.2    Munafò, M.3
  • 60
    • 85000443086 scopus 로고    scopus 로고
    • Partitioning heritability by functional annotation using genome-wide association summary statistics
    • Finucane, H.K. et al. Partitioning heritability by functional annotation using genome-wide association summary statistics. Nat. Genet. 47, 1228-1235 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 1228-1235
    • Finucane, H.K.1
  • 61
  • 63
    • 84959158225 scopus 로고    scopus 로고
    • Genetic influences on schizophrenia and subcortical brain volumes: Large-scale proof of concept
    • Franke, B. et al. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nat. Neurosci. 19, 420-431 (2016).
    • (2016) Nat. Neurosci. , vol.19 , pp. 420-431
    • Franke, B.1
  • 64
    • 85005846735 scopus 로고    scopus 로고
    • An examination of polygenic score risk prediction in individuals with first episode psychosis
    • Vassos, E. et al. An examination of polygenic score risk prediction in individuals with first episode psychosis. Biol. Psychiatry http://dx.doi.org/10.1016/j.biopsych.2016.06.028 (2016).
    • (2016) Biol. Psychiatry
    • Vassos, E.1
  • 65
    • 84928650714 scopus 로고    scopus 로고
    • Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia
    • Ruderfer, D.M. et al. Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. Mol. Psychiatry 19, 1017-1024 (2014).
    • (2014) Mol. Psychiatry , vol.19 , pp. 1017-1024
    • Ruderfer, D.M.1
  • 66
    • 84954077730 scopus 로고    scopus 로고
    • Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: A genetic association study
    • Cleynen, I. et al. Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study. Lancet 387, 156-167 (2016).
    • (2016) Lancet , vol.387 , pp. 156-167
    • Cleynen, I.1
  • 67
    • 15744390996 scopus 로고    scopus 로고
    • Intergenerational transmission of subthreshold autistic traits in the general population
    • Constantino, J.N. & Todd, R.D. Intergenerational transmission of subthreshold autistic traits in the general population. Biol. Psychiatry 57, 655-660 (2005).
    • (2005) Biol. Psychiatry , vol.57 , pp. 655-660
    • Constantino, J.N.1    Todd, R.D.2
  • 68
    • 84937520584 scopus 로고    scopus 로고
    • Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
    • Parikshak, N.N., Gandal, M.J. & Geschwind, D.H. Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat. Rev. Genet. 16, 441-458 (2015).
    • (2015) Nat. Rev. Genet. , vol.16 , pp. 441-458
    • Parikshak, N.N.1    Gandal, M.J.2    Geschwind, D.H.3
  • 69
    • 80054993342 scopus 로고    scopus 로고
    • Spatio-temporal transcriptome of the human brain
    • Kang, H.J. et al. Spatio-temporal transcriptome of the human brain. Nature 478, 483-489 (2011).
    • (2011) Nature , vol.478 , pp. 483-489
    • Kang, H.J.1
  • 70
    • 84953762043 scopus 로고    scopus 로고
    • Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex
    • Jaffe, A.E. et al. Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex. Nat. Neurosci. 19, 40-47 (2016).
    • (2016) Nat. Neurosci. , vol.19 , pp. 40-47
    • Jaffe, A.E.1
  • 71
    • 84889561601 scopus 로고    scopus 로고
    • Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
    • Parikshak, N.N. et al. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 155, 1008-1021 (2013).
    • (2013) Cell , vol.155 , pp. 1008-1021
    • Parikshak, N.N.1
  • 72
    • 80055015161 scopus 로고    scopus 로고
    • Temporal dynamics and genetic control of transcription in the human prefrontal cortex
    • Colantuoni, C. et al. Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature 478, 519-523 (2011).
    • (2011) Nature , vol.478 , pp. 519-523
    • Colantuoni, C.1
  • 73
    • 84866518216 scopus 로고    scopus 로고
    • An anatomically comprehensive atlas of the adult human brain transcriptome
    • Hawrylycz, M.J. et al. An anatomically comprehensive atlas of the adult human brain transcriptome. Nature 489, 391-399 (2012).
    • (2012) Nature , vol.489 , pp. 391-399
    • Hawrylycz, M.J.1
  • 74
    • 84900303453 scopus 로고    scopus 로고
    • Transcriptional landscape of the prenatal human brain
    • Miller, J.A. et al. Transcriptional landscape of the prenatal human brain. Nature 508, 199-206 (2014).
    • (2014) Nature , vol.508 , pp. 199-206
    • Miller, J.A.1
  • 75
    • 84978173600 scopus 로고    scopus 로고
    • A comprehensive transcriptional map of primate brain development
    • Bakken, T.E. et al. A comprehensive transcriptional map of primate brain development. Nature 535, 367-375 (2016).
    • (2016) Nature , vol.535 , pp. 367-375
    • Bakken, T.E.1
  • 76
    • 84863338226 scopus 로고    scopus 로고
    • Transcriptional architecture of the primate neocortex
    • Bernard, A. et al. Transcriptional architecture of the primate neocortex. Neuron 73, 1083-1099 (2012).
    • (2012) Neuron , vol.73 , pp. 1083-1099
    • Bernard, A.1
  • 77
    • 84906901689 scopus 로고    scopus 로고
    • An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex
    • Zhang, Y. et al. An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex. J. Neurosci. 34, 11929-11947 (2014).
    • (2014) J. Neurosci. , vol.34 , pp. 11929-11947
    • Zhang, Y.1
  • 78
    • 84931274624 scopus 로고    scopus 로고
    • A survey of human brain transcriptome diversity at the single cell level
    • Darmanis, S. et al. A survey of human brain transcriptome diversity at the single cell level. Proc. Natl. Acad. Sci. USA 112, 7285-7290 (2015).
    • (2015) Proc. Natl. Acad. Sci. USA , vol.112 , pp. 7285-7290
    • Darmanis, S.1
  • 79
    • 84892720695 scopus 로고    scopus 로고
    • Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders
    • Xu, X., Wells, A.B., O'Brien, D.R., Nehorai, A. & Dougherty, J.D. Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders. J. Neurosci. 34, 1420-1431 (2014).
    • (2014) J. Neurosci. , vol.34 , pp. 1420-1431
    • Xu, X.1    Wells, A.B.2    O'Brien, D.R.3    Nehorai, A.4    Dougherty, J.D.5
  • 80
    • 84923077204 scopus 로고    scopus 로고
    • Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
    • O'Dushlaine, C. et al. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nat. Neurosci. 18, 199-209 (2015).
    • (2015) Nat. Neurosci. , vol.18 , pp. 199-209
    • O'Dushlaine, C.1
  • 81
    • 84881193129 scopus 로고    scopus 로고
    • Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
    • Gulsuner, S. et al. Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. Cell 154, 518-529 (2013).
    • (2013) Cell , vol.154 , pp. 518-529
    • Gulsuner, S.1
  • 82
    • 84870529525 scopus 로고    scopus 로고
    • Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
    • Gilman, S.R. et al. Diverse types of genetic variation converge on functional gene networks involved in schizophrenia. Nat. Neurosci. 15, 1723-1728 (2012).
    • (2012) Nat. Neurosci. , vol.15 , pp. 1723-1728
    • Gilman, S.R.1
  • 83
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak, B.J. 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
    • O'Roak, B.J.1
  • 84
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale, B.M. 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
  • 85
    • 84988735848 scopus 로고    scopus 로고
    • Identification of human neuronal protein complexes reveals biochemical activities and convergent mechanisms of action in autism spectrum disorders
    • Li, J. et al. Identification of human neuronal protein complexes reveals biochemical activities and convergent mechanisms of action in autism spectrum disorders. Cell Syst. 1, 361-374 (2015).
    • (2015) Cell Syst. , vol.1 , pp. 361-374
    • Li, J.1
  • 86
    • 69949176863 scopus 로고    scopus 로고
    • Common regulatory variation impacts gene expression in a cell type-dependent manner
    • Dimas, A.S. et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325, 1246-1250 (2009).
    • (2009) Science , vol.325 , pp. 1246-1250
    • Dimas, A.S.1
  • 87
    • 84921750431 scopus 로고    scopus 로고
    • Genetic variability in the regulation of gene expression in ten regions of the human brain
    • Ramasamy, A. et al. Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat. Neurosci. 17, 1418-1428 (2014).
    • (2014) Nat. Neurosci. , vol.17 , pp. 1418-1428
    • Ramasamy, A.1
  • 89
    • 84959547986 scopus 로고    scopus 로고
    • Integrative approaches for large-scale transcriptome-wide association studies
    • Gusev, A. et al. Integrative approaches for large-scale transcriptome-wide association studies. Nat. Genet. 48, 245-252 (2016).
    • (2016) Nat. Genet. , vol.48 , pp. 245-252
    • Gusev, A.1
  • 90
    • 84940780615 scopus 로고    scopus 로고
    • A gene-based association method for mapping traits using reference transcriptome data
    • Gamazon, E.R. et al. A gene-based association method for mapping traits using reference transcriptome data. Nat. Genet. 47, 1091-1098 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 1091-1098
    • Gamazon, E.R.1
  • 91
    • 67651108806 scopus 로고    scopus 로고
    • The genetics of quantitative traits: Challenges and prospects
    • Mackay, T.F.C., Stone, E.A. & Ayroles, J.F. The genetics of quantitative traits: challenges and prospects. Nat. Rev. Genet. 10, 565-577 (2009).
    • (2009) Nat. Rev. Genet. , vol.10 , pp. 565-577
    • Mackay, T.F.C.1    Stone, E.A.2    Ayroles, J.F.3
  • 92
    • 84962233946 scopus 로고    scopus 로고
    • Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
    • Singh, T. et al. Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nat. Neurosci. 19, 571-577 (2016).
    • (2016) Nat. Neurosci. , vol.19 , pp. 571-577
    • Singh, T.1
  • 93
    • 84953729873 scopus 로고    scopus 로고
    • Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci
    • Hannon, E. et al. Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci. Nat. Neurosci. 19, 48-54 (2016).
    • (2016) Nat. Neurosci. , vol.19 , pp. 48-54
    • Hannon, E.1
  • 94
    • 84928924946 scopus 로고    scopus 로고
    • Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms
    • del Rosario, R.C.-H. et al. Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms. Nat. Methods 12, 458-464 (2015).
    • (2015) Nat. Methods , vol.12 , pp. 458-464
    • Del Rosario, R.C.-H.1
  • 95
    • 84912125156 scopus 로고    scopus 로고
    • A role for noncoding variation in schizophrenia
    • Roussos, P. et al. A role for noncoding variation in schizophrenia. Cell Reports 9, 1417-1429 (2014).
    • (2014) Cell Reports , vol.9 , pp. 1417-1429
    • Roussos, P.1
  • 96
    • 84934442315 scopus 로고    scopus 로고
    • Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture
    • Pasca, A.M. et al. Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture. Nat. Methods 12, 671-678 (2015).
    • (2015) Nat. Methods , vol.12 , pp. 671-678
    • Pasca, A.M.1
  • 97
    • 79958260092 scopus 로고    scopus 로고
    • The human brain in a dish: The promise of iPSC-derived neurons
    • Dolmetsch, R. & Geschwind, D.H. The human brain in a dish: the promise of iPSC-derived neurons. Cell 145, 831-834 (2011).
    • (2011) Cell , vol.145 , pp. 831-834
    • Dolmetsch, R.1    Geschwind, D.H.2
  • 98
    • 77955454185 scopus 로고    scopus 로고
    • Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways
    • Miller, J.A., Horvath, S. & Geschwind, D.H. Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways. Proc. Natl. Acad. Sci. USA 107, 12698-12703 (2010).
    • (2010) Proc. Natl. Acad. Sci. USA , vol.107 , pp. 12698-12703
    • Miller, J.A.1    Horvath, S.2    Geschwind, D.H.3
  • 99
    • 84874457770 scopus 로고    scopus 로고
    • Genomic responses in mouse models poorly mimic human inflammatory diseases
    • Seok, J. et al. Genomic responses in mouse models poorly mimic human inflammatory diseases. Proc. Natl. Acad. Sci. USA 110, 3507-3512 (2013).
    • (2013) Proc. Natl. Acad. Sci. USA , vol.110 , pp. 3507-3512
    • Seok, J.1
  • 100
    • 84865374280 scopus 로고    scopus 로고
    • Human-specific transcriptional networks in the brain
    • Konopka, G. et al. Human-specific transcriptional networks in the brain. Neuron 75, 601-617 (2012).
    • (2012) Neuron , vol.75 , pp. 601-617
    • Konopka, G.1
  • 101
    • 84859293639 scopus 로고    scopus 로고
    • Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex
    • Kwan, K.Y. et al. Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex. Cell 149, 899-911 (2012).
    • (2012) Cell , vol.149 , pp. 899-911
    • Kwan, K.Y.1
  • 102
    • 84886996828 scopus 로고    scopus 로고
    • Cortical evolution: Judge the brain by its cover
    • Geschwind, D.H. & Rakic, P. Cortical evolution: judge the brain by its cover. Neuron 80, 633-647 (2013).
    • (2013) Neuron , vol.80 , pp. 633-647
    • Geschwind, D.H.1    Rakic, P.2
  • 103
    • 84917671055 scopus 로고    scopus 로고
    • Fmr1 and Nlgn3 knockout rats: Novel tools for investigating autism spectrum disorders
    • Hamilton, S.M. et al. Fmr1 and Nlgn3 knockout rats: novel tools for investigating autism spectrum disorders. Behav. Neurosci. 128, 103-109 (2014).
    • (2014) Behav. Neurosci. , vol.128 , pp. 103-109
    • Hamilton, S.M.1
  • 104
    • 84957536784 scopus 로고    scopus 로고
    • Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2
    • Liu, Z. et al. Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature 530, 98-102 (2016).
    • (2016) Nature , vol.530 , pp. 98-102
    • Liu, Z.1
  • 105
    • 84940983037 scopus 로고    scopus 로고
    • Modeling psychiatric disorders for developing effective treatments
    • Kaiser, T. & Feng, G. Modeling psychiatric disorders for developing effective treatments. Nat. Med. 21, 979-988 (2015).
    • (2015) Nat. Med. , vol.21 , pp. 979-988
    • Kaiser, T.1    Feng, G.2
  • 106
    • 84954289332 scopus 로고    scopus 로고
    • Clinical trials for neurodevelopmental disorders: At a therapeutic frontier
    • Jeste, S.S. & Geschwind, D.H. Clinical trials for neurodevelopmental disorders: at a therapeutic frontier. Sci. Transl. Med. 8, 321fs1 (2016).
    • (2016) Sci. Transl. Med. , vol.8 , pp. 321fs1
    • Jeste, S.S.1    Geschwind, D.H.2
  • 107
    • 0037071905 scopus 로고    scopus 로고
    • Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest
    • Dockendorff, T.C. et al. Drosophila lacking dfmr1 activity show defects in circadian output and fail to maintain courtship interest. Neuron 34, 973-984 (2002).
    • (2002) Neuron , vol.34 , pp. 973-984
    • Dockendorff, T.C.1
  • 108
    • 84958212452 scopus 로고    scopus 로고
    • Estrogens suppress a behavioral phenotype in zebrafish mutants of the autism risk gene, CNTNAP2
    • Hoffman, E.J. et al. Estrogens suppress a behavioral phenotype in zebrafish mutants of the autism risk gene, CNTNAP2. Neuron 89, 725-733 (2016).
    • (2016) Neuron , vol.89 , pp. 725-733
    • Hoffman, E.J.1
  • 109
    • 84901286741 scopus 로고    scopus 로고
    • Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome
    • Portmann, T. et al. Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. Cell Reports 7, 1077-1092 (2014).
    • (2014) Cell Reports , vol.7 , pp. 1077-1092
    • Portmann, T.1
  • 110
    • 84861075586 scopus 로고    scopus 로고
    • KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
    • Golzio, C. et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485, 363-367 (2012).
    • (2012) Nature , vol.485 , pp. 363-367
    • Golzio, C.1
  • 111
    • 84856088804 scopus 로고    scopus 로고
    • Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
    • Pasca, S.P. et al. Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat. Med. 17, 1657-1662 (2011).
    • (2011) Nat. Med. , vol.17 , pp. 1657-1662
    • Pasca, S.P.1
  • 112
    • 84937212591 scopus 로고    scopus 로고
    • FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders
    • Mariani, J. et al. FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders. Cell 162, 375-390 (2015).
    • (2015) Cell , vol.162 , pp. 375-390
    • Mariani, J.1
  • 113
    • 84863230316 scopus 로고    scopus 로고
    • Massively parallel functional dissection of mammalian enhancers in vivo
    • Patwardhan, R.P. et al. Massively parallel functional dissection of mammalian enhancers in vivo. Nat. Biotechnol. 30, 265-270 (2012).
    • (2012) Nat. Biotechnol. , vol.30 , pp. 265-270
    • Patwardhan, R.P.1
  • 114
    • 84959420668 scopus 로고    scopus 로고
    • Adult restoration of Shank3 expression rescues selective autistic-like phenotypes
    • Mei, Y. et al. Adult restoration of Shank3 expression rescues selective autistic-like phenotypes. Nature 530, 481-484 (2016).
    • (2016) Nature , vol.530 , pp. 481-484
    • Mei, Y.1
  • 115
    • 84903574160 scopus 로고    scopus 로고
    • A quantitative framework to evaluate modeling of cortical development by neural stem cells
    • Stein, J.L. et al. A quantitative framework to evaluate modeling of cortical development by neural stem cells. Neuron 83, 69-86 (2014).
    • (2014) Neuron , vol.83 , pp. 69-86
    • Stein, J.L.1
  • 116
    • 84867439307 scopus 로고    scopus 로고
    • Revolution stalled
    • Hyman, S.E. Revolution stalled. Sci. Transl. Med. 4, 155cm11 (2012).
    • (2012) Sci. Transl. Med. , vol.4 , pp. 155cm11
    • Hyman, S.E.1
  • 118
    • 84961211119 scopus 로고    scopus 로고
    • Genetic variants associated with response to lithium treatment in bipolar disorder: A genome-wide association study
    • Hou, L. et al. Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet 387, 1085-1093 (2016).
    • (2016) Lancet , vol.387 , pp. 1085-1093
    • Hou, L.1
  • 119
    • 84923091172 scopus 로고    scopus 로고
    • Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles
    • Goldstein, J.I. et al. Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Nat. Commun. 5, 4757 (2014).
    • (2014) Nat. Commun. , vol.5 , pp. 4757
    • Goldstein, J.I.1
  • 120
    • 77957894148 scopus 로고    scopus 로고
    • Changing the landscape of autism research: The autism genetic resource exchange
    • Lajonchere, C.M. Changing the landscape of autism research: the autism genetic resource exchange. Neuron 68, 187-191 (2010).
    • (2010) Neuron , vol.68 , pp. 187-191
    • Lajonchere, C.M.1
  • 121
    • 84937395582 scopus 로고    scopus 로고
    • Pervasive robustness in biological systems
    • Félix, M.-A. & Barkoulas, M. Pervasive robustness in biological systems. Nat. Rev. Genet. 16, 483-496 (2015).
    • (2015) Nat. Rev. Genet. , vol.16 , pp. 483-496
    • Félix, M.-A.1    Barkoulas, M.2
  • 122
    • 84871298155 scopus 로고    scopus 로고
    • Common genetic variants, acting additively, are a major source of risk for autism
    • Klei, L. et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol. Autism 3, 9 (2012).
    • (2012) Mol. Autism , vol.3 , pp. 9
    • Klei, L.1
  • 123
    • 84905582433 scopus 로고    scopus 로고
    • Most genetic risk for autism resides with common variation
    • Gaugler, T. et al. Most genetic risk for autism resides with common variation. Nat. Genet. 46, 881-885 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 881-885
    • Gaugler, T.1
  • 124
    • 84938292742 scopus 로고    scopus 로고
    • The support of human genetic evidence for approved drug indications
    • Nelson, M.R. et al. The support of human genetic evidence for approved drug indications. Nat. Genet. 47, 856-860 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 856-860
    • Nelson, M.R.1
  • 125
    • 77955505564 scopus 로고    scopus 로고
    • Biological, clinical and population relevance of 95 loci for blood lipids
    • Teslovich, T.M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707-713 (2010).
    • (2010) Nature , vol.466 , pp. 707-713
    • Teslovich, T.M.1
  • 126
    • 84958659058 scopus 로고    scopus 로고
    • Unravelling the human genome-phenome relationship using phenome-wide association studies
    • Bush, W.S., Oetjens, M.T. & Crawford, D.C. Unravelling the human genome-phenome relationship using phenome-wide association studies. Nat. Rev. Genet. 17, 129-145 (2016).
    • (2016) Nat. Rev. Genet. , vol.17 , pp. 129-145
    • Bush, W.S.1    Oetjens, M.T.2    Crawford, D.C.3
  • 127
    • 79956327715 scopus 로고    scopus 로고
    • Using electronic health records to drive discovery in disease genomics
    • Kohane, I.S. Using electronic health records to drive discovery in disease genomics. Nat. Rev. Genet. 12, 417-428 (2011).
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 417-428
    • Kohane, I.S.1
  • 128
    • 84961218962 scopus 로고    scopus 로고
    • The genetics of drug efficacy: Opportunities and challenges
    • Nelson, M.R. et al. The genetics of drug efficacy: opportunities and challenges. Nat. Rev. Genet. 17, 197-206 (2016).
    • (2016) Nat. Rev. Genet. , vol.17 , pp. 197-206
    • Nelson, M.R.1
  • 130
    • 84960079810 scopus 로고    scopus 로고
    • A survey of current trends in computational drug repositioning
    • Li, J. et al. A survey of current trends in computational drug repositioning. Brief. Bioinform. 17, 2-12 (2016).
    • (2016) Brief. Bioinform. , vol.17 , pp. 2-12
    • Li, J.1
  • 131
    • 84962381476 scopus 로고    scopus 로고
    • Polygenic overlap between schizophrenia risk and antipsychotic response: A genomic medicine approach
    • Ruderfer, D.M. et al. Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach. Lancet Psychiatry 3, 350-357 (2016).
    • (2016) Lancet Psychiatry , vol.3 , pp. 350-357
    • Ruderfer, D.M.1
  • 132
    • 33749335282 scopus 로고    scopus 로고
    • The Connectivity Map: Using gene-expression signatures to connect small molecules, genes, and disease
    • Lamb, J. et al. The Connectivity Map: using gene-expression signatures to connect small molecules, genes, and disease. Science 313, 1929-1935 (2006).
    • (2006) Science , vol.313 , pp. 1929-1935
    • Lamb, J.1
  • 133
    • 58149464318 scopus 로고    scopus 로고
    • Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study
    • Lichtenstein, P. et al. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet 373, 234-239 (2009).
    • (2009) Lancet , vol.373 , pp. 234-239
    • Lichtenstein, P.1
  • 134
    • 84883465830 scopus 로고    scopus 로고
    • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
    • Lee, S.H. et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat. Genet. 45, 984-994 (2013).
    • (2013) Nat. Genet. , vol.45 , pp. 984-994
    • Lee, S.H.1
  • 135
    • 84955494277 scopus 로고    scopus 로고
    • Discontinuity in the genetic and environmental causes of the intellectual disability spectrum
    • Reichenberg, A. et al. Discontinuity in the genetic and environmental causes of the intellectual disability spectrum. Proc. Natl. Acad. Sci. USA 113, 1098-1103 (2016).
    • (2016) Proc. Natl. Acad. Sci. USA , vol.113 , pp. 1098-1103
    • Reichenberg, A.1
  • 136
    • 84904465224 scopus 로고    scopus 로고
    • Genome sequencing identifies major causes of severe intellectual disability
    • Gilissen, C. et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 511, 344-347 (2014).
    • (2014) Nature , vol.511 , pp. 344-347
    • Gilissen, C.1
  • 137
    • 84876196443 scopus 로고    scopus 로고
    • Common DNA markers can account for more than half of the genetic influence on cognitive abilities
    • Plomin, R., Haworth, C.M., Meaburn, E.L., Price, T.S. & Davis, O.S. Common DNA markers can account for more than half of the genetic influence on cognitive abilities. Psychol. Sci. 24, 562-568 (2013).
    • (2013) Psychol. Sci. , vol.24 , pp. 562-568
    • Plomin, R.1    Haworth, C.M.2    Meaburn, E.L.3    Price, T.S.4    Davis, O.S.5
  • 138
    • 84962300984 scopus 로고    scopus 로고
    • Assessment of the genetic variance of late-onset Alzheimer's disease
    • Ridge, P.G. et al. Assessment of the genetic variance of late-onset Alzheimer's disease. Neurobiol. Aging 41, 200.e13-e20 (2016).
    • (2016) Neurobiol. Aging , vol.41 , pp. 200e13-200e20
    • Ridge, P.G.1
  • 139
    • 84872568730 scopus 로고    scopus 로고
    • The heritability of human disease: Estimation, uses and abuses
    • Tenesa, A. & Haley, C.S. The heritability of human disease: estimation, uses and abuses. Nat. Rev. Genet. 14, 139-149 (2013).
    • (2013) Nat. Rev. Genet. , vol.14 , pp. 139-149
    • Tenesa, A.1    Haley, C.S.2
  • 141
    • 33751112508 scopus 로고    scopus 로고
    • Analysis of high-resolution HapMap of DTNBP1 (dysbindin) suggests no consistency between reported common variant associations and schizophrenia
    • Mutsuddi, M. et al. Analysis of high-resolution HapMap of DTNBP1 (dysbindin) suggests no consistency between reported common variant associations and schizophrenia. Am. J. Hum. Genet. 79, 903-909 (2006).
    • (2006) Am. J. Hum. Genet. , vol.79 , pp. 903-909
    • Mutsuddi, M.1
  • 142
    • 33846631884 scopus 로고    scopus 로고
    • Common genetic variants account for differences in gene expression among ethnic groups
    • Spielman, R.S. et al. Common genetic variants account for differences in gene expression among ethnic groups. Nat. Genet. 39, 226-231 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 226-231
    • Spielman, R.S.1
  • 143
    • 34347326155 scopus 로고    scopus 로고
    • On the design and analysis of gene expression studies in human populations
    • author reply 808-809
    • Akey, J.M., Biswas, S., Leek, J.T. & Storey, J.D. On the design and analysis of gene expression studies in human populations. Nat. Genet. 39, 807-808 author reply 808-809 (2007).
    • (2007) Nat. Genet. , vol.39 , pp. 807-808
    • Akey, J.M.1    Biswas, S.2    Leek, J.T.3    Storey, J.D.4
  • 144
    • 80053319759 scopus 로고    scopus 로고
    • Genetic signatures of exceptional longevity in humans
    • Sebastiani, P. et al. Genetic signatures of exceptional longevity in humans. Science 2010, 1190532 (2010).
    • (2010) Science , vol.2010 , pp. 1190532
    • Sebastiani, P.1
  • 145
    • 84897115312 scopus 로고    scopus 로고
    • Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
    • Skafidas, E. et al. Predicting the diagnosis of autism spectrum disorder using gene pathway analysis. Mol. Psychiatry 19, 504-510 (2014).
    • (2014) Mol. Psychiatry , vol.19 , pp. 504-510
    • Skafidas, E.1
  • 147
    • 84922263888 scopus 로고    scopus 로고
    • Uncovering the hidden risk architecture of the schizophrenias: Confirmation in three independent genome-wide association studies
    • Arnedo, J. et al. Uncovering the hidden risk architecture of the schizophrenias: confirmation in three independent genome-wide association studies. Am. J. Psychiatry 172, 139-153 (2015).
    • (2015) Am. J. Psychiatry , vol.172 , pp. 139-153
    • Arnedo, J.1
  • 148
    • 84977123665 scopus 로고    scopus 로고
    • Nuclear receptor NR1H3 in familial multiple sclerosis
    • Wang, Z. et al. Nuclear receptor NR1H3 in familial multiple sclerosis. Neuron 90, 948-954 (2016).
    • (2016) Neuron , vol.90 , pp. 948-954
    • Wang, Z.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.