spacer
  Home | About CDC | Press Room | Funding | A-Z Index | Centers, Institute & Offices | Training & Employment | Contact Us
spacer
spacer CDC Centers for Disease Control and Prevention Home Page spacer
CDC en Español
spacer
 
spacer
Health & Safety TopicsPublications & ProductsData & StatisticsConferences & Events
spacer
spacer
spacer
spacer
   GeT-RM Home
space
  Inherited Genetic Disease
space
arrow Materials Currently Available
space
arrow Reference Articles
space
  Molecular Oncology
space
arrow Materials Currently Available
space
arrow Reference Articles
space
  Infectious Diseases
space
arrow Materials Currently Available
space
arrow Reference Articles
space
  General
space
arrow Reference Material Sources
space
arrow Guidance and Oversight
space
arrow Collaborator Acknowledgements
space
  DLS Content
space
arrow DLS Home
space
arrow CLIA
space
arrow Genetics
space
arrow International
space
arrow MASTER
space
arrow Monitoring
space
arrow MPEP
space
arrow NLTN
space
arrow Publications
space
arrow Training
space
  Other DLS Resources
space
arrow Resource Links
space
spacer spacer
spacer
spacer
spacer
RM Materials - Reference Articles
spacer
spacer
  1. 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 Epub ahead of print.
     
  2. 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.
     
  3. 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.
     
  4. 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.
     
  5. 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. Gen Med 9(10):719-723.
     
  6. 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.
     
  7. Emons H, Fajgelj A, van der Veen AMH, Watters R (2006). New definitions on reference materials. Accred Qual Assur. 10:576-578.
     
  8. Emons H (2006). The 'RM family'-Identification of all of its members. Acred Qual Assur 10:690-691
     
  9. 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.
     
  10. 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
  11. 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. Journal of Molecular Diagnostics 7:247-251.
     
  12. 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.
  13. S League, WC Hooper (2005). Molecular diagnostics of inherited thrombosis. Clin Lab Sci 18(4):271-279.
     
  14. 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.
     
  15. 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
     
  16. 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.
     
  17. 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. Journal of Molecular Diagnostics 5:227-30.
     
  18. Grody WW (2003). Quest for controls in molecular genetics. Journal of Molecular Diagnostics 5:209-211.
     
  19. 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.
     
  20. 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.
     
  21. 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.
     
  22. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE (2001). Quality control in molecular genetic testing. Nature Reviews Genetics 2:717-23.
     
  23. 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
     
  24. Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests. American Journal of Clinical Pathology. 111(4):449-463. 1999
     
  25. Mcgovern MM, Benach, MO, Wallenstein S, Desnick RJ, Keenlyside R (1999) Quality Assurance in Molecular Genetic Testing Laboratories. JAMA 281:835-840.
     
  26. Williams LO, Cole EC: General recommendations for quality assurance programs for laboratory molecular genetic tests: final monograph. Centers for Disease Control and Prevention, Public Health Practice Program Office, Division of Laboratory Systems.
     

This page last reviewed: 1/17/2007
spacer
spacer
spacer
spacer
  Home | Policies and Regulations | Disclaimer | e-Government | FOIA | Contact Us
spacer
spacer
spacer Safer, Healthier People
spacer
Centers for Disease Control and Prevention, 1600 Clifton Rd, Atlanta, GA 30333, U.S.A
Tel: (404) 639-3311 / Public Inquiries: (404) 639-3534 / (800) 311-3435
spacer FirstGovDHHS Department of Health
and Human Services