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Towards an evidence-based process for the clinical interpretation of copy number variation.
Riggs ER, Church DM, Hanson K, Horner VL, Kaminsky EB, Kuhn RM, Wain KE, Williams ES, Aradhya S, Kearney HM, Ledbetter DH, South ST, Thorland EC, Martin CL. Riggs ER, et al. Among authors: kearney hm. Clin Genet. 2012 May;81(5):403-12. doi: 10.1111/j.1399-0004.2011.01818.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22097934 Free PMC article. Review.
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: kearney hm. 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: kearney hm. 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. Among authors: kearney hm. 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.
Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.
Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Pearce KE, He R, Kelemen K, Al-Mondhiry HAB, Lamparella NE, Hoppman NL, Kearney HM, Baughn LB, Ketterling RP, Greipp PT. Peterson JF, et al. Among authors: kearney hm. Cancer Genet. 2019 Jan;230:37-46. doi: 10.1016/j.cancergen.2018.11.005. Epub 2018 Nov 20. Cancer Genet. 2019. PMID: 30497985 Review.
49 results