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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: liu y. 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.
Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.
Salipante SJ, Mealiffe ME, Wechsler J, Krem MM, Liu Y, Namkoong S, Bhagat G, Kirchhoff T, Offit K, Lynch H, Wiernik PH, Roshal M, McMaster ML, Tucker M, Fromm JR, Goldin LR, Horwitz MS. Salipante SJ, et al. Among authors: liu y. Proc Natl Acad Sci U S A. 2009 Sep 1;106(35):14920-5. doi: 10.1073/pnas.0904231106. Epub 2009 Aug 12. Proc Natl Acad Sci U S A. 2009. PMID: 19706467 Free PMC article.
Recurrent somatic loss of TNFRSF14 in classical Hodgkin lymphoma.
Salipante SJ, Adey A, Thomas A, Lee C, Liu YJ, Kumar A, Lewis AP, Wu D, Fromm JR, Shendure J. Salipante SJ, et al. Genes Chromosomes Cancer. 2016 Mar;55(3):278-87. doi: 10.1002/gcc.22331. Epub 2015 Dec 9. Genes Chromosomes Cancer. 2016. PMID: 26650888 Free PMC article.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Riggs ER, Nelson T, Merz A, Ackley T, Bunke B, Collins CD, Collinson MN, Fan YS, Goodenberger ML, Golden DM, Haglund-Hazy L, Krgovic D, Lamb AN, Lewis Z, Li G, Liu Y, Meck J, Neufeld-Kaiser W, Runke CK, Sanmann JN, Stavropoulos DJ, Strong E, Su M, Tayeh MK, Kokalj Vokac N, Thorland EC, Andersen E, Martin CL. Riggs ER, et al. Among authors: liu y. Hum Mutat. 2018 Nov;39(11):1650-1659. doi: 10.1002/humu.23610. Hum Mutat. 2018. PMID: 30095202 Free PMC article.
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