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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: pritchard cc. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC 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. 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.
Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Dorschner MO, et al. Among authors: pritchard cc. Am J Hum Genet. 2013 Oct 3;93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. Epub 2013 Sep 19. Am J Hum Genet. 2013. PMID: 24055113 Free PMC article.
Molecular alterations and biomarkers in colorectal cancer.
Grady WM, Pritchard CC. Grady WM, et al. Among authors: pritchard cc. Toxicol Pathol. 2014 Jan;42(1):124-39. doi: 10.1177/0192623313505155. Epub 2013 Oct 31. Toxicol Pathol. 2014. PMID: 24178577 Free PMC article. Review.
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. 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.
Microsatellite instability detection by next generation sequencing.
Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC. Salipante SJ, et al. Among authors: pritchard cc. Clin Chem. 2014 Sep;60(9):1192-9. doi: 10.1373/clinchem.2014.223677. Epub 2014 Jun 30. Clin Chem. 2014. PMID: 24987110
199 results