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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: kalman lv. 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 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: kalman lv. 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 and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV. Barker SD, et al. Among authors: kalman lv. J Mol Diagn. 2009 Nov;11(6):553-61. doi: 10.2353/jmoldx.2009.090078. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767587 Free PMC article.
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L. Kalman L, et al. J Mol Diagn. 2011 Mar;13(2):167-74. doi: 10.1016/j.jmoldx.2010.11.018. J Mol Diagn. 2011. PMID: 21354051 Free PMC article.
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
Schrijver I, Aziz N, Farkas DH, Furtado M, Gonzalez AF, Greiner TC, Grody WW, Hambuch T, Kalman L, Kant JA, Klein RD, Leonard DG, Lubin IM, Mao R, Nagan N, Pratt VM, Sobel ME, Voelkerding KV, Gibson JS. Schrijver I, et al. J Mol Diagn. 2012 Nov;14(6):525-40. doi: 10.1016/j.jmoldx.2012.04.006. Epub 2012 Aug 20. J Mol Diagn. 2012. PMID: 22918138 Free PMC article.
Assuring the quality of next-generation sequencing in clinical laboratory practice.
Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmüller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM. Gargis AS, et al. Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403. Nat Biotechnol. 2012. PMID: 23138292 Free PMC article. No abstract available.
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Gargis AS, et al. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
45 results