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American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.
Kearney HM, South ST, Wolff DJ, Lamb A, Hamosh A, Rao KW; Working Group of the American College of Medical Genetics. Kearney HM, et al. Genet Med. 2011 Jul;13(7):676-9. doi: 10.1097/GIM.0b013e31822272ac. Genet Med. 2011. PMID: 21681105 Free 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.
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.
South ST, Lee C, Lamb AN, Higgins AW, Kearney HM; Working Group for the American College of Medical Genetics and Genomics Laboratory Quality Assurance Committee. South ST, et al. Among authors: kearney hm. Genet Med. 2013 Nov;15(11):901-9. doi: 10.1038/gim.2013.129. Epub 2013 Sep 26. Genet Med. 2013. PMID: 24071793 Free 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.
49 results