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RM Materials - Reference Articles

  1. B Chen, M Gagnon, S Shahangian, NL Anderson, DA Howerton, JD Boone, Centers for Disease Control and Prevention (2009). Good laboratory best practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep 58(rr-6):1-37.
     
  2. VM Pratt, M Caggana, C Bridges, AM Buller, L DiAntonio, WE Highsmith, LM Holtegaard, K Muralidharan, EM Rohlfs, J Tarleton, L Toji, SD Barker, LV Kalman (2009). Development of genomic reference materials for cystic fibrosis genetic testing. J Mol Diagn. 11(3):186-193.
     
  3. E Dequeker, M Stuhrmann, MA Morris, T Casals, C Castellani, M Claustres, H Cuppens, MD Georges, C Ferec, M Macek, PF Pignatti, H Scheffer, M Schwartz, M Witt, M Schwarz, E Girodon (2008). Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations. Eur J Hum Genet 17(1):51-65..
     
  4. D Gancberg, P Corbisier, N Meeus, J Marki-Zay, C Mannhalter, H Schimmel (2008). Certification of reference materials for detection of the human prothrombin gene G20210A sequence variant. Clin Chem Lab Med 46(4):463-469.
     
  5. J Amos Wilson, VM Pratt, A Phansalkar, K Muralidharan, WE Highsmith, JC Beck, S Bridgeman, EM Courtney, L Epp, A Ferreira-Gonzalez, NL Hjelm, LM Holtegaard, MA Jama, JP Jakupciak, MA Johnson, P Labrousse, E Lyon, TW Prior, CS Richards, KL Richie, BB Roa, EM Rohlfs, T Sellers, SL Sherman, KA Siegrist, LM Silverman, J Wiszniewska, LV Kalman, Fragile Xperts Working Group of AMP (2008). Consensus characterization of 16 FMR1 reference materials: a consortium study. J Mol Diagn 10(1):2-12.
     
  6. S Berwouts, JT Gordon, CA Rundell, DE Barton, E Dequeker (2008). Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis. Hum Mutat 29(8):1063-1070.
     
  7. L Kalman, MA Johnson, J Beck, E Berry-Kravis, A Buller, B Casey, GL Feldman, J Handsfield, JP Jakupciak, S Maragh, K Matteson, K Muralidharan, KL Richie, EM Rohlfs, F Schaefer, T Sellers, E Spector, CS Richards (2007). Development of genomic reference materials for Huntington disease genetic testing. Genet Med 9(10):719-723.
     
  8. E Gray, JR Hawkins, M Morrison, M Hawkins, E Byrne, S Kitchen, I Jennings, M Makris, FE Preston, P Metcalfe (2006). Establishment of the first International Reference Panel for Factor V Leiden, human gDNA. Thromb Haemost 96(2):215-219.
     
  9. Emons H, Fajgelj A, van der Veen AMH, Watters R (2006). New definitions on reference materials. Accred Qual Assur. 10(10):576-578.
     
  10. Emons H. The 'RM family'-Identification of all of its members. Acred Qual Assur 2006;10:690-691.
     
  11. BC Levin, KL Richie, JP Jakupciak (2006). Advances in Huntington disease diagnostics: development of a standard reference material. Expert Rev Mol Diagn 6(4):587-596.
     
  12. Chen B, O’Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni DR, Bernacki SH, Caggana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE Jr., Hinkel CS, Kalman LV, Lubin IM, Lyon E, Payne DA, Pratt VM, Rohlfs E, Rundell CA, Schneider E, Willey AM, Williams LO, Willey JC, Winn-Deen ES, Wolff DJ (2005). Developing a sustainable process to provide quality control materials for genetic testing. Genet Med 7:534 –549.
     
  13. Jarvis M, Iyer RK, Williams LO, Noll WW, et al. (2005). A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics. Mol Diagn 7:247-251
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  14. CL Klein, J Marki-Zay, P Corbisier, D Gancberg, S Cooper, D Gemmati, WM Halbmayer, S Kitchen, B Melegh, M Neumaier, J Oldenburg, EO Leibundgut, PH Reitsma, S Rieger, HG Schimmel, M Spannagl, A Tordai, A Tosetto, S Visvikis, R Zadro, C Mannhalter (2005). Reference materials (RMs) for analysis of the human factor II (prothrombin) gene 20210A mutation. Clin Chem Lab Med 43(8):862-868.
     
  15. S League, WC Hooper (2005). Molecular diagnostics of inherited thrombosis. Clin Lab Sci 18(4):271-279
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  16. CI Dumur, S Nasim, AM Best, KJ Archer, AC Ladd, VR Mas, DS Wilkinson, CT Garrett, A Ferreira-Gonzalez (2004). Evaluation of quality control criteria for microarray gene expression analysis. Clin Chem 50(11):1994-2002.
     
  17. Watson MS, Cutting GR, Desnick RJ, et al. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genetics in Medicine 6:387-391.
     
  18. Williams LO, Cole EC, Lubin IM, et al. (2003) Quality assurance in human molecular genetics testing: status and recommendations. Archives of Pathology & Laboratory Medicine 127:1353-8.
     
  19. Bernacki SH, Stankovic AK, Williams LO, et al. (2003). Establishment of stably EBV-transformed cell lines from residual clinical blood samples for use in performance evaluation and quality assurance in molecular genetic testing. J Mol Diagn 5:227-30.
     
  20. Grody WW (2003). Quest for controls in molecular genetics. J Mol Diagn 5:209-211.
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  21. O'Connell CD, Atha DH, Jakupciak JP, Amos JA, Richie K (2002). Standardization of PCR amplification for fragile X trinucleotide repeat measurements. Clinical Genetics 61:13-20.
     
  22. Barker PE, Watson MS, Ticehurst JR, Colbert JC, O'Connell CD (2002). NIST physical standards for DNA-based medical testing. Journal of Clinical Laboratory Analysis 16:5-10.
     
  23. Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick JR (2001). Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3:149-154.
     
  24. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE (2001). Quality control in molecular genetic testing. Nature Reviews Genetics 2:717-23.
     
  25. American College of Obstetricians and Gynecologists, and American College of Medical Genetics (2001). Preconception and prenatal carrier screening for cystic fibrosis. Clinical and Laboratory Guidelines. American College of Obstetricians and Gynecologists, Washington, DC
     
  26. Association for Molecular Pathology statement (1999). Recommendations for in-house development and operation of molecular diagnostic tests. American Journal of Clinical Pathology 111(4):449-463.
     
  27. Mcgovern MM, Benach, MO, Wallenstein S, Desnick RJ, Keenlyside R (1999) Quality Assurance in Molecular Genetic Testing Laboratories. JAMA 281:835-840.
     
  28. Williams LO, Cole EC. General recommendations for quality assurance programs for laboratory molecular genetic tests. Final Monograph. 1999. http://www.phppo.cdc.gov/dls/pdf/genetics/dyncor.pdf
 
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