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Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
Grosu DS, Hague L, Chelliserry M, Kruglyak KM, Lenta R, Klotzle B, San J, Goldstein WM, Moturi S, Devers P, Woolworth J, Peters E, Elashoff B, Stoerker J, Wolff DJ, Friedman KJ, Highsmith WE, Lin E, Ong FS. Grosu DS, et al. Among authors: highsmith we. Expert Rev Mol Diagn. 2014 Jun;14(5):605-22. doi: 10.1586/14737159.2014.916618. Expert Rev Mol Diagn. 2014. PMID: 24844137
The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.
Farkas DH, Miltgen NE, Stoerker J, van den Boom D, Highsmith WE, Cagasan L, McCullough R, Mueller R, Tang L, Tynan J, Tate C, Bombard A. Farkas DH, et al. Among authors: highsmith we. J Mol Diagn. 2010 Sep;12(5):611-9. doi: 10.2353/jmoldx.2010.090233. Epub 2010 Jul 8. J Mol Diagn. 2010. PMID: 20616359 Free PMC article.
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: highsmith we jr. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free 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: highsmith we jr. 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.
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: highsmith we. 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.
Screening Young syndrome patients for CFTR mutations.
Friedman KJ, Teichtahl H, De Kretser DM, Temple-Smith P, Southwick GJ, Silverman LM, Highsmith WE Jr, Boucher RC, Knowles MR. Friedman KJ, et al. Among authors: highsmith we jr. Am J Respir Crit Care Med. 1995 Oct;152(4 Pt 1):1353-7. doi: 10.1164/ajrccm.152.4.7551394. Am J Respir Crit Care Med. 1995. PMID: 7551394
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