메뉴 건너뛰기




Volumn 12, Issue 11, 2011, Pages 1519-1523

Interview: Personal account of the discovery of a new disease using next-generation sequencing

Author keywords

[No Author keywords available]

Indexed keywords

DNA; ACYLTRANSFERASE; NAA10 PROTEIN, HUMAN; PEPTIDE ALPHA N ACETYLTRANSFERASE A; PEPTIDE ALPHA N ACETYLTRANSFERASE E;

EID: 80455158344     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/pgs.11.117     Document Type: Review
Times cited : (10)

References (12)
  • 1
    • 80051550297 scopus 로고    scopus 로고
    • Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency
    • Rope AF, Wang K, Evjenth R et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am. J. Hum. Genet. 89, 28-43 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 28-43
    • Rope, A.F.1    Wang, K.2    Evjenth, R.3
  • 2
    • 80051547469 scopus 로고    scopus 로고
    • A probabilistic disease-gene finder for personal genomes
    • Yandell M, Huff C, Hu H et al. A probabilistic disease-gene finder for personal genomes. Genome. Res. 21(9), 1529-1542 (2011).
    • (2011) Genome. Res. , vol.21 , Issue.9 , pp. 1529-1542
    • Yandell, M.1    Huff, C.2    Hu, H.3
  • 3
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng SB, Turner EH, Robertson PD et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272-276 (2009).
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1    Turner, E.H.2    Robertson, P.D.3
  • 4
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42, 30-35 (2010).
    • (2010) Nat. Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 5
    • 77951799158 scopus 로고    scopus 로고
    • Analysis of genetic inheritance in a family quartet by whole-genome sequencing
    • Roach JC, Glusman G, Smit AF et al. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328, 636-639 (2010).
    • (2010) Science , vol.328 , pp. 636-639
    • Roach, J.C.1    Glusman, G.2    Smit, A.F.3
  • 6
    • 79251645624 scopus 로고    scopus 로고
    • Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
    • Worthey EA, Mayer AN, Syverson GD et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13, 255-262 (2011).
    • (2011) Genet. Med. , vol.13 , pp. 255-262
    • Worthey, E.A.1    Mayer, A.N.2    Syverson, G.D.3
  • 7
    • 78650305886 scopus 로고    scopus 로고
    • Rethinking the genetic architecture of schizophrenia
    • Mitchell KJ, Porteous DJ. Rethinking the genetic architecture of schizophrenia. Psychol. Med. 41, 19-32 (2011).
    • (2011) Psychol. Med. , vol.41 , pp. 19-32
    • Mitchell, K.J.1    Porteous, D.J.2
  • 8
    • 79958039807 scopus 로고    scopus 로고
    • Towards a functional understanding of protein N-terminal acetylation
    • Arnesen T. Towards a functional understanding of protein N-terminal acetylation. PLoS Biol. 9, e1001074 (2011).
    • (2011) PLoS Biol. , vol.9
    • Arnesen, T.1
  • 9
    • 78549279173 scopus 로고    scopus 로고
    • Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation
    • Accurso FJ, Rowe SM, Clancy JP et al. Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation. N. Engl. J. Med. 363, 1991-2003 (2010).
    • (2010) N. Engl. J. Med. , vol.363 , pp. 1991-2003
    • Accurso, F.J.1    Rowe, S.M.2    Clancy, J.P.3
  • 10
    • 79958074870 scopus 로고    scopus 로고
    • Multiple recurrent de novo CNVs including duplications of the 7q11.23 Williams syndrome region are strongly associated with autism
    • Sanders SJ, Ercan-Sencicek AG, Hus V et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863-885 (2011).
    • (2011) Neuron , vol.70 , pp. 863-885
    • Sanders, S.J.1    Ercan-Sencicek, A.G.2    Hus, V.3
  • 11
    • 79958035893 scopus 로고    scopus 로고
    • Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
    • Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70, 898-907 (2011).
    • (2011) Neuron , vol.70 , pp. 898-907
    • Gilman, S.R.1    Iossifov, I.2    Levy, D.3    Ronemus, M.4    Wigler, M.5    Vitkup, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.