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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: martin cl. Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Genet Med. 2020. PMID: 31690835 Free PMC article.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: martin cl. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.
Riggs ER, Ledbetter DH, Martin CL. Riggs ER, et al. Among authors: martin cl. Curr Genet Med Rep. 2014 Jul 18;2(3):146-150. doi: 10.1007/s40142-014-0048-4. eCollection 2014. Curr Genet Med Rep. 2014. PMID: 25152847 Free PMC article. Review.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. Among authors: martin cl. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Copy number variants, aneuploidies, and human disease.
Martin CL, Kirkpatrick BE, Ledbetter DH. Martin CL, et al. Clin Perinatol. 2015 Jun;42(2):227-42, vii. doi: 10.1016/j.clp.2015.03.001. Epub 2015 Apr 1. Clin Perinatol. 2015. PMID: 26042902 Free PMC article. Review.
526 results