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Page 1
Developing a sustainable process to provide quality control materials for genetic testing.
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. Chen B, et al. Among authors: rohlfs e. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.
Development of genomic reference materials for Huntington disease genetic testing.
Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. Kalman L, et al. Among authors: rohlfs em. Genet Med. 2007 Oct;9(10):719-23. doi: 10.1097/gim.0b013e318156e8c1. Genet Med. 2007. PMID: 18073586 Free article.
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW. Watson MS, et al. Among authors: rohlfs em. Genet Med. 2004 Sep-Oct;6(5):387-91. doi: 10.1097/01.gim.0000139506.11694.7c. Genet Med. 2004. PMID: 15371902 Free PMC article. No abstract available.
Development of genomic reference materials for cystic fibrosis genetic testing.
Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV. Pratt VM, et al. Among authors: rohlfs em. J Mol Diagn. 2009 May;11(3):186-93. doi: 10.2353/jmoldx.2009.080149. Epub 2009 Apr 9. J Mol Diagn. 2009. PMID: 19359498 Free PMC article.
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K. Kalman L, et al. Among authors: rohlfs em. J Mol Diagn. 2009 Nov;11(6):530-6. doi: 10.2353/jmoldx.2009.090050. Epub 2009 Oct 8. J Mol Diagn. 2009. PMID: 19815695 Free PMC article.
Consensus characterization of 16 FMR1 reference materials: a consortium study.
Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee. Amos Wilson J, et al. Among authors: rohlfs em. J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. J Mol Diagn. 2008. PMID: 18165276 Free PMC article.
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Bernacki SH, et al. Among authors: rohlfs em. Clin Chem. 2005 Nov;51(11):2013-24. doi: 10.1373/clinchem.2005.048694. Epub 2005 Sep 15. Clin Chem. 2005. PMID: 16166172
32 results