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Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
Svensson AM, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E. Svensson AM, et al. Among authors: voelkerding kv. Genet Test Mol Biomarkers. 2010 Apr;14(2):171-4. doi: 10.1089/gtmb.2009.0099. Genet Test Mol Biomarkers. 2010. PMID: 20059381
Mycobacterium chelonae-abscessus complex associated with sinopulmonary disease, Northeastern USA.
Simmon KE, Brown-Elliott BA, Ridge PG, Durtschi JD, Mann LB, Slechta ES, Steigerwalt AG, Moser BD, Whitney AM, Brown JM, Voelkerding KV, McGowan KL, Reilly AF, Kirn TJ, Butler WR, Edelstein PH, Wallace RJ Jr, Petti CA. Simmon KE, et al. Among authors: voelkerding kv. Emerg Infect Dis. 2011 Sep;17(9):1692-700. doi: 10.3201/eid1709.101667. Emerg Infect Dis. 2011. PMID: 21888796 Free PMC article.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
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. Among authors: voelkerding kv. Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. Nat Biotechnol. 2015. PMID: 26154004 Free PMC article. No abstract available.
96 results