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Volumn 10, Issue 5, 2008, Pages 309-313

Issues in genetic testing for ultra-rare diseases: Background and introduction

Author keywords

CLIA; Clinical laboratories; Genetic testing; Rare disease testing; Research laboratories; Test translation; Ultra rare diseases

Indexed keywords

DNA;

EID: 44449087537     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181729d99     Document Type: Note
Times cited : (8)

References (10)
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    • Molecular genetic testing for ultra rare diseases: Models for translation from the research laboratory to the CLIA-certified dragnostic laboratory
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    • (2008) Genet Med , vol.10 , pp. 332-336
    • Das, S.1    Bale, S.J.2    Ledbetter, D.H.3
  • 4
    • 44449114294 scopus 로고    scopus 로고
    • New quality assurance standards for rare disease testing
    • Grody WW, Richards CS. New quality assurance standards for rare disease testing. Genet Med 2008;10:320-324.
    • (2008) Genet Med , vol.10 , pp. 320-324
    • Grody, W.W.1    Richards, C.S.2
  • 5
    • 0035746512 scopus 로고    scopus 로고
    • Public health impact of genetic tests at the end of the 20th century
    • Yoon PW, Chen B, Faucett A, Clyne M, et al. Public health impact of genetic tests at the end of the 20th century. Genet Med 2001;3:405-410.
    • (2001) Genet Med , vol.3 , pp. 405-410
    • Yoon, P.W.1    Chen, B.2    Faucett, A.3    Clyne, M.4
  • 6
    • 0003987981 scopus 로고
    • Andrews LB, Fullarton JC, Holtzman NA, Motulsky AG, eds, Washington, DC: National Academy Press;
    • Andrews LB, Fullarton JC, Holtzman NA, Motulsky AG, eds. Assessing Genetic Risks, Implications for Health and Social Policy. Washington, DC: National Academy Press; 1994.
    • (1994) Assessing Genetic Risks, Implications for Health and Social Policy
  • 7
    • 0033186688 scopus 로고    scopus 로고
    • Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing
    • Holtzman NA, Watson MS. Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing. J Child Fam Nurs 1999;2:388-390.
    • (1999) J Child Fam Nurs , vol.2 , pp. 388-390
    • Holtzman, N.A.1    Watson, M.S.2
  • 8
    • 44449135622 scopus 로고    scopus 로고
    • A model program to increase translation of rare disease genetic tests: Collaboration, education and test translation program
    • Faucett WA, Hart S, Pagon RA, Forman Neall L, et al. A model program to increase translation of rare disease genetic tests: collaboration, education and test translation program. Genet Med 2008;10:343-348.
    • (2008) Genet Med , vol.10 , pp. 343-348
    • Faucett, W.A.1    Hart, S.2    Pagon, R.A.3    Forman Neall, L.4
  • 9
    • 44449158947 scopus 로고    scopus 로고
    • Molecular testing: Improving patient care through partnering with laboratory genetic counselors
    • Scacheri C, Redman JB, Pike-Buchanan L, Steenblock K. Molecular testing: improving patient care through partnering with laboratory genetic counselors. Genet Med 2008;10:337-342.
    • (2008) Genet Med , vol.10 , pp. 337-342
    • Scacheri, C.1    Redman, J.B.2    Pike-Buchanan, L.3    Steenblock, K.4
  • 10
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    • Gene patenting and licensing: The role of academic researchers and advocacy groups
    • Ledbetter DH. Gene patenting and licensing: the role of academic researchers and advocacy groups. Genet Med 2008;10:314-319.
    • (2008) Genet Med , vol.10 , pp. 314-319
    • Ledbetter, D.H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.