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Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders.
Shen W, Sellers HL, Choate LA, Stein MI, Tandale PP, Tan J, Setlem R, Sakai Y, Fadra N, Sosa C, McClelland SP, Barnett SS, Rasmussen KJ, Runke CK, Smoley SA, Tillmans LS, Marcou CA, Rowsey RA, Thorland EC, Boczek NJ, Kearney HM. Shen W, et al. Among authors: kearney hm. J Mol Diagn. 2023 Jul;25(7):524-531. doi: 10.1016/j.jmoldx.2023.04.001. Epub 2023 Apr 23. J Mol Diagn. 2023. PMID: 37088140
REC, Drosophila MCM8, drives formation of meiotic crossovers.
Blanton HL, Radford SJ, McMahan S, Kearney HM, Ibrahim JG, Sekelsky J. Blanton HL, et al. Among authors: kearney hm. PLoS Genet. 2005 Sep;1(3):e40. doi: 10.1371/journal.pgen.0010040. PLoS Genet. 2005. PMID: 16189551 Free PMC article.
Section E9 of the American College of Medical Genetics technical standards and guidelines: fluorescence in situ hybridization.
Mascarello JT, Hirsch B, Kearney HM, Ketterling RP, Olson SB, Quigley DI, Rao KW, Tepperberg JH, Tsuchiya KD, Wiktor AE; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. Mascarello JT, et al. Among authors: kearney hm. Genet Med. 2011 Jul;13(7):667-75. doi: 10.1097/GIM.0b013e3182227295. Genet Med. 2011. PMID: 21738013 Free article.
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
47 results