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Volumn 313, Issue 20, 2015, Pages 2029-2030

Cognitive Phenotypes and Genomic Copy Number Variations

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ASYMPTOMATIC DISEASE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COGNITIVE DEFECT; COPY NUMBER VARIATION; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; DIPLOIDY; DISEASE PREDISPOSITION; DNA SEQUENCE; EDITORIAL; FAMILY HISTORY; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; GENOME ANALYSIS; GENOMICS; HUMAN; HUMAN GENOME; INTELLECTUAL IMPAIRMENT; MEDICAL PRACTICE; MENTAL PERFORMANCE; NONHUMAN; PENETRANCE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; SYMPTOM; FEMALE; GENETICS; HETEROZYGOTE; MALE; MENTAL DISEASE;

EID: 84929905639     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2015.4846     Document Type: Editorial
Times cited : (11)

References (18)
  • 1
    • 84929880718 scopus 로고    scopus 로고
    • Copy number variations and cognitive phenotypes in unselected populations
    • Männik K, Mägi R, Macé A, et al. Copy number variations and cognitive phenotypes in unselected populations. JAMA. doi: 10.1001/jama.2015.4845.
    • JAMA
    • Männik, K.1    Mägi, R.2    Macé, A.3
  • 2
    • 84931577887 scopus 로고    scopus 로고
    • Structural variation mutagenesis of the human genome
    • Lupski JR. Structural variation mutagenesis of the human genome. Environ Mol Mutagen. 2015. doi: 10.1002/em.21943.
    • (2015) Environ Mol Mutagen
    • Lupski, J.R.1
  • 3
    • 84887416438 scopus 로고    scopus 로고
    • ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013
    • South ST, Lee C, Lamb AN, Higgins AW, Kearney HM;Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med. 2013;15(11):901-909.
    • (2013) Genet Med , vol.15 , Issue.11 , pp. 901-909
    • South, S.T.1    Lee, C.2    Lamb, A.N.3    Higgins, A.W.4    Kearney, H.M.5
  • 4
    • 84929895852 scopus 로고    scopus 로고
    • Accessed May 5, 2015
    • DECIPHER web page. https://decipher.sanger.ac.uk/index. Accessed May 5, 2015.
    • DECIPHER Web Page
  • 5
    • 84925224470 scopus 로고    scopus 로고
    • TBX6 null variants and a common hypomorphic allele in congenital scoliosis
    • WuN, Ming X, Xiao J, et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. N Engl J Med. 2015;372(4):341-350.
    • (2015) N Engl J Med , vol.372 , Issue.4 , pp. 341-350
    • Wu, N.1    Ming, X.2    Xiao, J.3
  • 6
    • 84926522440 scopus 로고    scopus 로고
    • Genetic diagnosis of developmental disorders in the DDD study: A scalable analysis of genome-wide research data
    • Wright CF, Fitzgerald TW, JonesWD, et al; Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385(9975):1305-1314.
    • (2015) Lancet , vol.385 , Issue.9975 , pp. 1305-1314
    • Wright, C.F.1    Fitzgerald, T.W.2    Jones, W.D.3
  • 7
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss LA, Shen Y, Korn JM, et al; Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667-675.
    • (2008) N Engl J Med , vol.358 , Issue.7 , pp. 667-675
    • Weiss, L.A.1    Shen, Y.2    Korn, J.M.3
  • 8
    • 51649107515 scopus 로고    scopus 로고
    • Schizophrenia: Incriminating genomic evidence
    • Lupski JR. Schizophrenia: incriminating genomic evidence. Nature. 2008;455:178-179.
    • (2008) Nature , vol.455 , pp. 178-179
    • Lupski, J.R.1
  • 9
    • 84892620880 scopus 로고    scopus 로고
    • CNVs conferring risk of autism or schizophrenia affect cognition in controls
    • Stefansson H, Meyer-Lindenberg A, Steinberg S, et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature. 2014;505(7483):361-366.
    • (2014) Nature , vol.505 , Issue.7483 , pp. 361-366
    • Stefansson, H.1    Meyer-Lindenberg, A.2    Steinberg, S.3
  • 10
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367 (20):1921-1929.
    • (2012) N Engl J Med , vol.367 , Issue.20 , pp. 1921-1929
    • De Ligt, J.1    Willemsen, M.H.2    Van Bon, B.W.3
  • 11
    • 84868543309 scopus 로고    scopus 로고
    • Range of genetic mutations associated with severe nonsyndromic sporadic intellectual disability: An exome sequencing study
    • Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe nonsyndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380(9854): 1674-1682.
    • (2012) Lancet , vol.380 , Issue.9854 , pp. 1674-1682
    • Rauch, A.1    Wieczorek, D.2    Graf, E.3
  • 12
    • 84864010114 scopus 로고    scopus 로고
    • Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits
    • Lacaria M, Spencer C, GuW, Paylor R, Lupski JR. Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits. Hum Mol Genet. 2012;21(14):3083-3096.
    • (2012) Hum Mol Genet , vol.21 , Issue.14 , pp. 3083-3096
    • Lacaria, M.1    Spencer, C.2    Guw Paylor, R.3    Lupski, J.R.4
  • 13
    • 17744388561 scopus 로고    scopus 로고
    • The role of cognitive ability (intelligence) in explaining the association between socioeconomic position and health
    • Singh-Manoux A, Ferrie JE, Lynch JW, Marmot M. The role of cognitive ability (intelligence) in explaining the association between socioeconomic position and health. Am J Epidemiol. 2005;161(9): 831-839.
    • (2005) Am J Epidemiol , vol.161 , Issue.9 , pp. 831-839
    • Singh-Manoux, A.1    Ferrie, J.E.2    Lynch, J.W.3    Marmot, M.4
  • 14
    • 84885785987 scopus 로고    scopus 로고
    • Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
    • Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med. 2013;369(16): 1502-1511.
    • (2013) N Engl J Med , vol.369 , Issue.16 , pp. 1502-1511
    • Yang, Y.1    Muzny, D.M.2    Reid, J.G.3
  • 15
    • 84918771753 scopus 로고    scopus 로고
    • Molecular findings among patients referred for clinical whole-exome sequencing
    • Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18): 1870-1879.
    • (2014) JAMA , vol.312 , Issue.18 , pp. 1870-1879
    • Yang, Y.1    Muzny, D.M.2    Xia, F.3
  • 16
    • 80053549439 scopus 로고    scopus 로고
    • Clan genomics and the complex architecture of human disease
    • Lupski JR, Belmont JW, Boerwinkle E, Gibbs RA. Clan genomics and the complex architecture of human disease. Cell. 2011;147(1):32-43.
    • (2011) Cell , vol.147 , Issue.1 , pp. 32-43
    • Lupski, J.R.1    Belmont, J.W.2    Boerwinkle, E.3    Gibbs, R.A.4
  • 17
    • 84922329183 scopus 로고    scopus 로고
    • Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome
    • Lalani SR, Zhang J, Schaaf CP, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95(5):579-583.
    • (2014) Am J Hum Genet , vol.95 , Issue.5 , pp. 579-583
    • Lalani, S.R.1    Zhang, J.2    Schaaf, C.P.3
  • 18
    • 84922012902 scopus 로고    scopus 로고
    • Refining analyses of copy number variation identifies specific genes associated with developmental delay
    • Coe BP, Witherspoon K, Rosenfeld JA, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46(10): 1063-1071.
    • (2014) Nat Genet , vol.46 , Issue.10 , pp. 1063-1071
    • Coe, B.P.1    Witherspoon, K.2    Rosenfeld, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.