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Volumn 64, Issue , 2013, Pages 441-450

Genetic basis of intellectual disability

Author keywords

chromosome disorder; microarray analysis; neurodevelopmental phenotypes; next generation sequencing

Indexed keywords

AUTISM; CHROMOSOME 1; CHROMOSOME 14; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; COPY NUMBER VARIATION; CYTOGENETICS; FRAGILE X SYNDROME; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA;

EID: 84873027175     PISSN: 00664219     EISSN: 1545326X     Source Type: Book Series    
DOI: 10.1146/annurev-med-042711-140053     Document Type: Review
Times cited : (77)

References (58)
  • 1
    • 36348978801 scopus 로고    scopus 로고
    • "Mental retardation" or "intellectual disability": Time for a conceptual change
    • Salvador-Carulla L, Bertelli M. 2008. "Mental retardation" or "intellectual disability": time for a conceptual change. Psychopathology 41:10-16
    • (2008) Psychopathology , vol.41 , pp. 10-16
    • Salvador-Carulla, L.1    Bertelli, M.2
  • 2
    • 79955701640 scopus 로고    scopus 로고
    • World Health Organization: Regional Office for Europe.
    • World Health Organization: Regional Office for Europe. 2010. Definition: intellectual disability. http://www.euro.who.int/en/what-we-do/health-topics/ noncommunicable-diseases/mental-health/news/news/2010/15/childrens-right-to- family-life/definition-intellectual-disability
    • (2010) Definition: Intellectual Disability
  • 3
    • 84873045748 scopus 로고    scopus 로고
    • Overview of intellectual disability: Definition, classification, and systems of support
    • American Association on Intellectual and DevelopmentalDisabilities (AAIDD), Providence, RI, June 8-11
    • American Association on Intellectual and DevelopmentalDisabilities (AAIDD). 2010. Overview of intellectual disability: definition, classification, and systems of support. Presented at AAIDD Annu.Meet., Providence, RI, June 8-11. http://www.aaidd.org/media/PDFs/CoreSlide.pdf
    • (2010) Presented at AAIDD Annu.Meet.
  • 4
    • 0036948248 scopus 로고    scopus 로고
    • The epidemiology of mental retardation: Challenges and opportunities in the new millennium
    • Leonard H, Wen X. 2002. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 8:117-34
    • (2002) Ment. Retard. Dev. Disabil. Res. Rev. , vol.8 , pp. 117-134
    • Leonard, H.1    Wen, X.2
  • 5
    • 1342269036 scopus 로고    scopus 로고
    • Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment-United States, 2003
    • Centers for Disease Control and Prevention
    • Centers for Disease Control and Prevention. 2004. Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment-United States, 2003. Morb.Mortal.Wkly. Rep. 53:57-59
    • (2004) Morb. Mortal. Wkly. Rep. , vol.53 , pp. 57-59
  • 6
    • 33749465589 scopus 로고    scopus 로고
    • Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
    • Rauch A, Hoyer J, Guth S, et al. 2006. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am. J. Med. Genet. Part A 140:2063-74
    • (2006) Am. J. Med. Genet. Part A , vol.140 , pp. 2063-2074
    • Rauch, A.1    Hoyer, J.2    Guth, S.3
  • 7
    • 80052260252 scopus 로고    scopus 로고
    • A copy number variation morbidity map of developmental delay
    • Cooper GM, Coe BP, Girirajan S, et al. 2011. A copy number variation morbidity map of developmental delay. Nat. Genet. 43:838-46
    • (2011) Nat. Genet. , vol.43 , pp. 838-846
    • Cooper, G.M.1    Coe, B.P.2    Girirajan, S.3
  • 8
    • 80052588672 scopus 로고    scopus 로고
    • An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
    • Kaminsky EB, Kaul V, Paschall J, et al. 2011. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet. Med. 13:777-84
    • (2011) Genet. Med. , vol.13 , pp. 777-784
    • Kaminsky, E.B.1    Kaul, V.2    Paschall, J.3
  • 9
    • 77953693575 scopus 로고    scopus 로고
    • Genomic microarrays in mental retardation: From copy number variation to gene, from research to diagnosis
    • Vissers LE, de Vries BB, Veltman JA. 2010. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J. Med. Genet. 47:289-97
    • (2010) J. Med. Genet. , vol.47 , pp. 289-297
    • Vissers, L.E.1    De Vries, B.B.2    Veltman, J.A.3
  • 10
    • 77958500315 scopus 로고    scopus 로고
    • Genomic copy number variation in disorders of cognitive development
    • Morrow EM. 2010. Genomic copy number variation in disorders of cognitive development. J. Am. Acad. Child Adolesc. Psychiatry 49:1091-104
    • (2010) J. Am. Acad. Child Adolesc. Psychiatry , vol.49 , pp. 1091-1104
    • Morrow, E.M.1
  • 11
    • 34548572847 scopus 로고    scopus 로고
    • The impact of array genomic hybridization on mental retardation research: A review of current technologies and their clinical utility
    • Zahir F, Friedman JM. 2007. The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility. Clin. Genet. 72:271-87
    • (2007) Clin. Genet. , vol.72 , pp. 271-287
    • Zahir, F.1    Friedman, J.M.2
  • 12
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al. 2010. Consensus statement: Chromosomal microarray is a firsttier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86:749-64
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 13
    • 67650659089 scopus 로고    scopus 로고
    • Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36, 325 patients with idiopathic developmental delay in the Netherlands
    • Hochstenbach R, van Binsbergen E, Engelen J, et al. 2009. Array analysis and karyotyping: workflow consequences based on a retrospective study of 36, 325 patients with idiopathic developmental delay in the Netherlands. Eur. J. Med. Genet. 52:161-69
    • (2009) Eur. J. Med. Genet. , vol.52 , pp. 161-169
    • Hochstenbach, R.1    Van Binsbergen, E.2    Engelen, J.3
  • 14
    • 34548690778 scopus 로고    scopus 로고
    • High-resolution genomic microarrays for X-linked mental retardation
    • Lugtenberg D, Veltman JA, van Bokhoven H. 2007. High-resolution genomic microarrays for X-linked mental retardation. Genet. Med. 9:560-65
    • (2007) Genet. Med. , vol.9 , pp. 560-565
    • Lugtenberg, D.1    Veltman, J.A.2    Van Bokhoven, H.3
  • 15
    • 80053931230 scopus 로고    scopus 로고
    • Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder
    • TalkowskiME, Mullegama SV, Rosenfeld JA, et al. 2011. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am. J. Hum. Genet. 89:551-63
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 551-563
    • Talkowski, M.E.1    Mullegama, S.V.2    Rosenfeld, J.A.3
  • 16
    • 33845889998 scopus 로고    scopus 로고
    • Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
    • Durand CM, Betancur C, Boeckers TM, et al. 2007. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet. 39:25-27
    • (2007) Nat. Genet. , vol.39 , pp. 25-27
    • Durand, C.M.1    Betancur, C.2    Boeckers, T.M.3
  • 17
    • 84861587577 scopus 로고    scopus 로고
    • Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
    • Koolen DA, Kramer JM, Neveling K, et al. 2012. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat. Genet. 44:639-41
    • (2012) Nat. Genet. , vol.44 , pp. 639-641
    • Koolen, D.A.1    Kramer, J.M.2    Neveling, K.3
  • 18
    • 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, et al. 2012. 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. 131:145-56
    • (2012) Hum. Genet. , vol.131 , pp. 145-156
    • Ballif, B.C.1    Rosenfeld, J.A.2    Traylor, R.3
  • 19
    • 84861639778 scopus 로고    scopus 로고
    • Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
    • ZollinoM, Orteschi D, MurdoloM, et al. 2012. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat. Genet. 44:636-38
    • (2012) Nat. Genet. , vol.44 , pp. 636-638
    • Zollino, M.1    Orteschi, D.2    Murdolo, M.3
  • 20
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • Pieretti M, Zhang FP, Fu YH, et al. 1991. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66:817-22
    • (1991) Cell , vol.66 , pp. 817-822
    • Pieretti, M.1    Zhang, F.P.2    Fu, Y.H.3
  • 21
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
    • Fu YH, KuhlDP, Pizzuti A, et al. 1991. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-58
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.2    Pizzuti, A.3
  • 22
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk AJ, Pieretti M, Sutcliffe JS, et al. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-14
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 23
    • 70350519151 scopus 로고    scopus 로고
    • Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    • Coffee B, Keith K, Albizua I, et al. 2009. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am. J. Hum. Genet. 85:503-14
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 503-514
    • Coffee, B.1    Keith, K.2    Albizua, I.3
  • 24
    • 84873020405 scopus 로고    scopus 로고
    • (updated 2009). In GeneReviews, ed. RA Pagon, TD Bird, CR Dolan, et al., 1993-. Seattle. MECP2-related disorders. In Univ. Washington
    • Christodoulou J, Ho G. 2001 (updated 2009). MECP2-related disorders. In GeneReviews, ed. RA Pagon, TD Bird, CR Dolan, et al., 1993-. Seattle: Univ. Washington. http://www.ncbi.nlm.nih.gov/books/NBK1497/
    • (2001)
    • Christodoulou, J.1    Ho, G.2
  • 26
    • 77957968873 scopus 로고    scopus 로고
    • Genetics of early onset cognitive impairment
    • Ropers HH. 2010. Genetics of early onset cognitive impairment. Annu. Rev. Genomics Hum. Genet. 11:161-87
    • (2010) Annu. Rev. Genomics Hum. Genet. , vol.11 , pp. 161-187
    • Ropers, H.H.1
  • 27
    • 66749148353 scopus 로고    scopus 로고
    • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
    • Tarpey PS, Smith R, Pleasance E, et al. 2009. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41:535-43
    • (2009) Nat. Genet. , vol.41 , pp. 535-543
    • Tarpey, P.S.1    Smith, R.2    Pleasance, E.3
  • 28
    • 84859514257 scopus 로고    scopus 로고
    • Fragile X and X-linked intellectual disability: Four decades of discovery
    • Lubs HA, Stevenson RE, Schwartz CE. 2012. Fragile X and X-linked intellectual disability: four decades of discovery. Am. J. Hum. Genet. 90:579-90
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 579-590
    • Lubs, H.A.1    Stevenson, R.E.2    Schwartz, C.E.3
  • 29
    • 78649484216 scopus 로고    scopus 로고
    • A de novo paradigm for mental retardation
    • Vissers LE, de Ligt J, Gilissen C, et al. 2010. A de novo paradigm for mental retardation. Nat. Genet. 42:1109-12
    • (2010) Nat. Genet. , vol.42 , pp. 1109-1112
    • Vissers, L.E.1    De Ligt, J.2    Gilissen, C.3
  • 30
    • 84860304045 scopus 로고    scopus 로고
    • Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects
    • Willemsen MH, Vissers LEL, Willemsen MAAP, et al. 2012. Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J. Med. Genet. 49:179-83
    • (2012) J. Med. Genet. , vol.49 , pp. 179-183
    • Willemsen, M.H.1    Vissers, L.E.L.2    Willemsen, M.A.A.P.3
  • 31
    • 80051671416 scopus 로고    scopus 로고
    • Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease
    • Weedon MN, Hastings R, Caswell R, et al. 2011. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 89:308-12
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 308-312
    • Weedon, M.N.1    Hastings, R.2    Caswell, R.3
  • 32
    • 84864083351 scopus 로고    scopus 로고
    • Clinical application of exome sequencing in undiagnosed genetic conditions
    • Need AC, Shashi V, Hitomi Y, et al. 2012. Clinical application of exome sequencing in undiagnosed genetic conditions. J. Med. Genet. 49:353-61
    • (2012) J. Med. Genet. , vol.49 , pp. 353-361
    • Need, A.C.1    Shashi, V.2    Hitomi, Y.3
  • 33
    • 78951473016 scopus 로고    scopus 로고
    • Autosomal recessive mental retardation: Homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
    • Kuss AW, Garshasbi M, Kahrizi K, et al. 2011. Autosomal recessive mental retardation: Homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum. Genet. 129:141-48
    • (2011) Hum. Genet. , vol.129 , pp. 141-148
    • Kuss, A.W.1    Garshasbi, M.2    Kahrizi, K.3
  • 34
    • 80053906761 scopus 로고    scopus 로고
    • Deep sequencing reveals 50 novel genes for recessive cognitive disorders
    • Najmabadi H, Hu H, Garshasbi M, et al. 2011. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478:57-63
    • (2011) Nature , vol.478 , pp. 57-63
    • Najmabadi, H.1    Hu, H.2    Garshasbi, M.3
  • 36
    • 69949177829 scopus 로고    scopus 로고
    • Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
    • Guilmatre A, Dubourg C, Mosca AL, et al. 2009. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch. Gen. Psychiatry 66:947-56
    • (2009) Arch. Gen. Psychiatry , vol.66 , pp. 947-956
    • Guilmatre, A.1    Dubourg, C.2    Mosca, A.L.3
  • 37
    • 79952484202 scopus 로고    scopus 로고
    • Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
    • Hamdan FF, Gauthier J, Araki Y, et al. 2011. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. Am. J. Hum. Genet. 88:306-16
    • (2011) Am. J. Hum. Genet. , vol.88 , pp. 306-316
    • Hamdan, F.F.1    Gauthier, J.2    Araki, Y.3
  • 38
    • 69249157781 scopus 로고    scopus 로고
    • Fruit flies and intellectual disability
    • Bolduc FV, Tully T. 2009. Fruit flies and intellectual disability. Fly (Austin) 3:91-104
    • (2009) Fly (Austin) , vol.3 , pp. 91-104
    • Bolduc, F.V.1    Tully, T.2
  • 39
    • 80052722309 scopus 로고    scopus 로고
    • ST3GAL3 mutations impair the development of higher cognitive functions
    • Hu H, Eggers K, Chen W, et al. 2011. ST3GAL3 mutations impair the development of higher cognitive functions. Am. J. Hum. Genet. 89:407-14
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 407-414
    • Hu, H.1    Eggers, K.2    Chen, W.3
  • 40
    • 70350228242 scopus 로고    scopus 로고
    • Primary microcephaly: Do all roads lead to Rome
    • Thornton GK, Woods CG. 2009. Primary microcephaly: Do all roads lead to Rome? Trends Genet. 25:501-10
    • (2009) Trends Genet , vol.25 , pp. 501-510
    • Thornton, G.K.1    Woods, C.G.2
  • 41
    • 78650177637 scopus 로고    scopus 로고
    • The genetic basis of non-syndromic intellectual disability: A review
    • Kaufman L, Ayub M, Vincent JB. 2010. The genetic basis of non-syndromic intellectual disability: a review. J. Neurodev. Disord. 2:182-209
    • (2010) J. Neurodev. Disord. , vol.2 , pp. 182-209
    • Kaufman, L.1    Ayub, M.2    Vincent, J.B.3
  • 42
    • 48249103109 scopus 로고    scopus 로고
    • Prevalence of autism among adolescentswith intellectual disabilities
    • Bryson SE, Bradley EA, ThompsonA, et al. 2008. Prevalence of autism among adolescentswith intellectual disabilities. Can. J. Psychiatry 53:449-59
    • (2008) Can. J. Psychiatry , vol.53 , pp. 449-459
    • Bryson, S.E.1    Bradley, E.A.2    Thompson, A.3
  • 43
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: An update
    • Fombonne E. 2003. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J. Autism Dev. Disord. 33:365-82
    • (2003) J. Autism Dev. Disord. , vol.33 , pp. 365-382
    • Fombonne, E.1
  • 45
    • 42349088634 scopus 로고    scopus 로고
    • Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
    • Walsh T, McClellan JM, McCarthy SE, et al. 2008. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320:539-43
    • (2008) Science , vol.320 , pp. 539-543
    • Walsh, T.1    McClellan, J.M.2    McCarthy, S.E.3
  • 46
    • 84858434210 scopus 로고    scopus 로고
    • CNVs: Harbingers of a rare variant revolution in psychiatric genetics
    • Malhotra D, Sebat J. 2012. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 148:1223-41
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 47
    • 77957907029 scopus 로고    scopus 로고
    • Neurogenetics: Advancing the "next-generation" of brain research
    • Zoghbi HY, Warren ST. 2010. Neurogenetics: advancing the "next-generation" of brain research. Neuron 68:165-73
    • (2010) Neuron , vol.68 , pp. 165-173
    • Zoghbi, H.Y.1    Warren, S.T.2
  • 48
    • 70449732249 scopus 로고    scopus 로고
    • Rare structural variants in schizophrenia: One disorder, multiple mutations; One mutation, multiple disorders
    • Sebat J, Levy DL, McCarthy SE. 2009. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet. 25:528-35
    • (2009) Trends Genet. , vol.25 , pp. 528-535
    • Sebat, J.1    Levy, D.L.2    McCarthy, S.E.3
  • 49
    • 84155191408 scopus 로고    scopus 로고
    • High frequencies of de novo CNVs in bipolar disorder and schizophrenia
    • Malhotra D, McCarthy S, Michaelson JJ, et al. 2011. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 72:951-63
    • (2011) Neuron , vol.72 , pp. 951-963
    • Malhotra, D.1    McCarthy, S.2    Michaelson, J.J.3
  • 50
    • 34247329773 scopus 로고    scopus 로고
    • The genetics of brain wiring: From molecule to mind
    • Mitchell KJ. 2007. The genetics of brain wiring: from molecule to mind. PLoS Biol. 5:e113
    • (2007) PLoS Biol. , vol.5
    • Mitchell, K.J.1
  • 51
    • 84873024231 scopus 로고
    • A clinical and genetic study of 1280 cases of mental defect
    • Penrose LS. 1938. A clinical and genetic study of 1280 cases of mental defect. London: H.M. Stationery Off. 159 pp.
    • (1938) London: H.M. Stationery Off.
    • Penrose, L.S.1
  • 52
    • 78649460246 scopus 로고    scopus 로고
    • New mutations and intellectual function
    • Lupski JR. 2010. New mutations and intellectual function. Nat. Genet. 42:1036-38
    • (2010) Nat. Genet. , vol.42 , pp. 1036-1038
    • Lupski, J.R.1
  • 53
    • 78650549600 scopus 로고    scopus 로고
    • Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
    • Robinson PN. 2010. Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biol. 11:144
    • (2010) Genome Biol. , vol.11 , pp. 144
    • Robinson, P.N.1
  • 54
    • 79953742751 scopus 로고    scopus 로고
    • De novo paradigm: The ultimate answer to the paradox in mental retardation? Clin
    • Huang K. 2011. De novo paradigm: the ultimate answer to the paradox in mental retardation? Clin. Genet. 79:427-28
    • (2011) Genet. , vol.79 , pp. 427-428
    • Huang, K.1
  • 55
    • 84855510023 scopus 로고    scopus 로고
    • What is complex about complex disorders
    • Mitchell KJ. 2012. What is complex about complex disorders? Genome Biol. 13:237
    • (2012) Genome Biol , vol.13 , pp. 237
    • Mitchell, K.J.1
  • 56
    • 77649122250 scopus 로고    scopus 로고
    • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
    • Girirajan S, Rosenfeld JA, Cooper GM, et al. 2010. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat. Genet. 42:203-9
    • (2010) Nat. Genet. , vol.42 , pp. 203-209
    • Girirajan, S.1    Rosenfeld, J.A.2    Cooper, G.M.3
  • 57
    • 80051674258 scopus 로고    scopus 로고
    • Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders
    • Schaaf CP, Sabo A, Sakai Y, et al. 2011. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum. Mol. Genet. 20:3366-75
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 3366-3375
    • Schaaf, C.P.1    Sabo, A.2    Sakai, Y.3
  • 58
    • 0036787307 scopus 로고    scopus 로고
    • Beyond Mendel: An evolving view of human genetic disease transmission
    • Badano JL, Katsanis N. 2002. Beyond Mendel: an evolving view of human genetic disease transmission. Nat. Rev. Genet. 3:779-89
    • (2002) Nat. Rev. Genet. , vol.3 , pp. 779-789
    • Badano, J.L.1    Katsanis, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.