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JAMA Neurology
Volumn 71, Issue 5, 2014, Pages 650-651
Diagnostic yield of clinical next-generation sequencing panels for epilepsy
Author keywords

[No Author keywords available]
Indexed keywords

CLINICAL ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EPILEPSY; GENETIC SCREENING; HEALTH CARE COST; HUMAN; INTERMETHOD COMPARISON; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SEQUENCE ANALYSIS;
EID: 84900479947     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.405     Document Type: Letter
Times cited : (50)
References (8)
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    • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
    • (2010) Am J Hum Genet , vol.86 , Issue.5 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 2
    • 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
  • 3
    • 84880547053 scopus 로고    scopus 로고
    • Genomics in clinical practice: Lessons from the front lines
    • Jacob HJ, Abrams K, Bick DP, et al. Genomics in clinical practice: lessons from the front lines. Sci Transl Med. 2013;5(194):194cm5.
    • (2013) Sci Transl Med , vol.5 , Issue.194
    • Jacob, H.J.1    Abrams, K.2    Bick, D.P.3
  • 4
    • 84882877155 scopus 로고    scopus 로고
    • Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
    • JonesMA, Rhodenizer D, da Silva C, et al. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. Mol GenetMetab. 2013;110(1-2):78-85.
    • (2013) Mol GenetMetab , vol.110 , Issue.1-2 , pp. 78-85
    • Jones, M.A.1    Rhodenizer, D.2    Da Silva, C.3
  • 5
    • 82955235679 scopus 로고    scopus 로고
    • Evidence report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
    • Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S. Evidence report: genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2011;77(17):1629-1635.
    • (2011) Neurology , vol.77 , Issue.17 , pp. 1629-1635
    • Michelson, D.J.1    Shevell, M.I.2    Sherr, E.H.3    Moeschler, J.B.4    Gropman, A.L.5    Ashwal, S.6
  • 6
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    • Accessed February 2 2014
    • Ambry Genetics. http://www.ambrygen.com.AccessedFebruary2,2014.
    • Ambry Genetics
  • 7
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    • Accessed February 2 2014
    • OMIM gene map statistics. http://www.omim.org/statistics/geneMap. AccessedFebruary2,2014.
    • OMIM gene map statistics
  • 8
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    • Accessed February 2 2014
    • The Human Gene Mutation database. http://www.hgmd.cf.ac.uk/ac/index.php. AccessedFebruary2,2014.
    • The Human Gene Mutation Database

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.