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Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL. Riggs ER, et al. Among authors: kearney h. Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9. Genet Med. 2021. PMID: 33731880 Free article. No abstract available.
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.
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.
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.
135 results