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Volumn 12, Issue 12, 2011, Pages 881-

Mutation (variation) databases and registries: A rationale for coordination of efforts

(15)  Auerbach, Arleen D a   Burn, John b   Cassiman, Jean Jacques c   Claustres, Mireille d   Cotton, Richard G H e   Cutting, Garry f   Den Dunnen, Johan T g   El Ruby, Mona h   Vargas, Aida Falcon i   Greenblatt, Marc S j   MacRae, Finlay k   Matsubara, Yoichi l   Rimoin, David L m   Vihinen, Mauno n   Van Broeckhoven, Christine o  


Author keywords

[No Author keywords available]

Indexed keywords

GENETIC DATABASE; GENETIC DISORDER; HEALTH CARE; HUMAN; LETTER; PRIORITY JOURNAL; WORLD HEALTH ORGANIZATION;

EID: 81355160214     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg3011-c1     Document Type: Letter
Times cited : (11)

References (10)
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    • Samuels, M.E.1    Rouleau, G.A.2
  • 2
    • 34047176879 scopus 로고    scopus 로고
    • What is the human variome project
    • Anonymous
    • Anonymous. What is the Human Variome Project? Nature Genet. 39, 423 (2007).
    • (2007) Nature Genet. , vol.39 , pp. 423
  • 3
    • 34047165392 scopus 로고    scopus 로고
    • Recommendations of the 2006 human variome project meeting
    • Cotton, R. G. et al. Recommendations of the 2006 Human Variome Project meeting. Nature Genet. 39, 433-436 (2007).
    • (2007) Nature Genet. , vol.39 , pp. 433-436
    • Cotton, R.G.1
  • 4
    • 78649620668 scopus 로고    scopus 로고
    • How to catch all those mutations - The report of the third human variome project meeting unesco Paris may 2010
    • Kohonen-Corish, M. R. J. et al. How to catch all those mutations - the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum. Mutat. 31, 1374-1381 (2010).
    • (2010) Hum. Mutat. , vol.31 , pp. 1374-1381
    • Kohonen-Corish, M.R.J.1
  • 5
    • 79251553788 scopus 로고    scopus 로고
    • China spurs quest for human variome
    • Cyranoski, D. China spurs quest for human variome. Nature 469, 455 (2011).
    • (2011) Nature , vol.469 , pp. 455
    • Cyranoski, D.1
  • 6
    • 79955141793 scopus 로고    scopus 로고
    • Pompe disease: Design methodology and early findings from the pompe registry
    • Byrne, B. J. et al. Pompe disease: design, methodology, and early findings from the Pompe registry. Mol. Genet. Metab.103,1-11 (2011).
    • (2011) Mol. Genet. Metab. , vol.103 , pp. 1-11
    • Byrne, B.J.1
  • 7
    • 77957749180 scopus 로고    scopus 로고
    • Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare disease-HUB RD-HUB
    • Rubinstein, Y. R. et al. Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB). Contemp. Clin. Trials. 31, 394-404 (2010).
    • (2010) Contemp. Clin. Trials. , vol.31 , pp. 394-404
    • Rubinstein, Y.R.1
  • 8
    • 79953161288 scopus 로고    scopus 로고
    • The case for a global rare disease registry
    • Forrest, C. B. et al. The case for a global rare disease registry. Lancet 377, 1057-1059 (2011).
    • (2011) Lancet , vol.377 , pp. 1057-1059
    • Forrest, C.B.1
  • 9
    • 79953737555 scopus 로고    scopus 로고
    • Rare-disease project has global ambitions
    • Abbott, A. Rare-disease project has global ambitions. Nature 472, 17 (2011).
    • (2011) Nature , vol.472 , pp. 17
    • Abbott, A.1
  • 10
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    • Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the human variome project
    • Cotton, R. G. et al. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet. Med. 11, 843-849 (2009).
    • (2009) Genet. Med. , vol.11 , pp. 843-849
    • Cotton, R.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.