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166 results

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Page 1
Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors.
Winters JL, Davila JI, McDonald AM, Nair AA, Fadra N, Wehrs RN, Thomas BC, Balcom JR, Jin L, Wu X, Voss JS, Klee EW, Oliver GR, Graham RP, Neff JL, Rumilla KM, Aypar U, Kipp BR, Jenkins RB, Jen J, Halling KC. Winters JL, et al. Among authors: aypar u. J Mol Diagn. 2018 Jul;20(4):495-511. doi: 10.1016/j.jmoldx.2018.03.007. Epub 2018 Jun 19. J Mol Diagn. 2018. PMID: 29929942 Free article.
Impact of RNA degradation on fusion detection by RNA-seq.
Davila JI, Fadra NM, Wang X, McDonald AM, Nair AA, Crusan BR, Wu X, Blommel JH, Jen J, Rumilla KM, Jenkins RB, Aypar U, Klee EW, Kipp BR, Halling KC. Davila JI, et al. Among authors: aypar u. BMC Genomics. 2016 Oct 20;17(1):814. doi: 10.1186/s12864-016-3161-9. BMC Genomics. 2016. PMID: 27765019 Free PMC article.
SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).
Johnson SH, Smadbeck JB, Smoley SA, Gaitatzes A, Murphy SJ, Harris FR, Drucker TM, Zenka RM, Pitel BA, Rowsey RA, Hoppman NL, Aypar U, Sukov WR, Jenkins RB, Feldman AL, Kearney HM, Vasmatzis G. Johnson SH, et al. Among authors: aypar u. Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2. Cancer Genet. 2018. PMID: 29405991
Copy number variant analysis using genome-wide mate-pair sequencing.
Smadbeck JB, Johnson SH, Smoley SA, Gaitatzes A, Drucker TM, Zenka RM, Kosari F, Murphy SJ, Hoppman N, Aypar U, Sukov WR, Jenkins RB, Kearney HM, Feldman AL, Vasmatzis G. Smadbeck JB, et al. Among authors: aypar u. Genes Chromosomes Cancer. 2018 Sep;57(9):459-470. doi: 10.1002/gcc.5. Epub 2018 Jul 30. Genes Chromosomes Cancer. 2018. PMID: 29726617 Free PMC article.
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
Aypar U, Smoley SA, Pitel BA, Pearce KE, Zenka RM, Vasmatzis G, Johnson SH, Smadbeck JB, Peterson JF, Geiersbach KB, Van Dyke DL, Thorland EC, Jenkins RB, Ketterling RP, Greipp PT, Kearney HM, Hoppman NL, Baughn LB. Aypar U, et al. Eur J Haematol. 2019 Jan;102(1):87-96. doi: 10.1111/ejh.13179. Epub 2018 Nov 22. Eur J Haematol. 2019. PMID: 30270457 Free PMC article.
Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
Lindor NM, Schahl KA, Johnson KJ, Hunt KS, Mensink KA, Wieben ED, Klee E, Black JL, Highsmith WE Jr, Thibodeau SN, Ferber MJ, Aypar U, Ji Y, Graham RP, Fiksdal AS, Sarangi V, Ormond KE, Riegert-Johnson DL, McAllister TM, Farrugia G, McCormick JB. Lindor NM, et al. Among authors: aypar u. Mayo Clin Proc. 2015 Oct;90(10):1327-37. doi: 10.1016/j.mayocp.2015.05.021. Mayo Clin Proc. 2015. PMID: 26434960
Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease.
Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, D'Aco K. Cocanougher B, et al. Among authors: aypar u. Mol Genet Metab Rep. 2015 Jan 21;2:61-64. doi: 10.1016/j.ymgmr.2014.12.004. eCollection 2015 Mar. Mol Genet Metab Rep. 2015. PMID: 28649529 Free PMC article.
166 results