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Improving performance of multigene panels for genomic analysis of cancer predisposition.
Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC. Shirts BH, et al. Among authors: king mc. Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4. Genet Med. 2016. PMID: 26845104 Free article.
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
Pritchard CC, Smith C, Salipante SJ, Lee MK, Thornton AM, Nord AS, Gulden C, Kupfer SS, Swisher EM, Bennett RL, Novetsky AP, Jarvik GP, Olopade OI, Goodfellow PJ, King MC, Tait JF, Walsh T. Pritchard CC, et al. Among authors: king mc. J Mol Diagn. 2012 Jul;14(4):357-66. doi: 10.1016/j.jmoldx.2012.03.002. Epub 2012 May 30. J Mol Diagn. 2012. PMID: 22658618 Free PMC article.
Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens.
Pritchard CC, Salipante SJ, Koehler K, Smith C, Scroggins S, Wood B, Wu D, Lee MK, Dintzis S, Adey A, Liu Y, Eaton KD, Martins R, Stricker K, Margolin KA, Hoffman N, Churpek JE, Tait JF, King MC, Walsh T. Pritchard CC, et al. Among authors: king mc. J Mol Diagn. 2014 Jan;16(1):56-67. doi: 10.1016/j.jmoldx.2013.08.004. Epub 2013 Nov 2. J Mol Diagn. 2014. PMID: 24189654 Free PMC article.
Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.
Lieberman S, Walsh T, Schechter M, Adar T, Goldin E, Beeri R, Sharon N, Baris H, Ben Avi L, Half E, Lerer I, Shirts BH, Pritchard CC, Tomlinson I, King MC, Levy-Lahad E, Peretz T, Goldberg Y. Lieberman S, et al. Among authors: king mc. Gastroenterology. 2017 Jun;152(8):1876-1880.e1. doi: 10.1053/j.gastro.2017.02.014. Epub 2017 Feb 24. Gastroenterology. 2017. PMID: 28242209
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Shirts BH, Konnick EQ, Upham S, Walsh T, Ranola JMO, Jacobson AL, King MC, Pearlman R, Hampel H, Pritchard CC. Shirts BH, et al. Among authors: king mc. Am J Hum Genet. 2018 Jul 5;103(1):19-29. doi: 10.1016/j.ajhg.2018.05.001. Epub 2018 Jun 7. Am J Hum Genet. 2018. PMID: 29887214 Free PMC article.
469 results