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Chromosomal microarray versus karyotyping for prenatal diagnosis.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Wapner RJ, et al. Among authors: martin cl. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. N Engl J Med. 2012. PMID: 23215555 Free PMC article. Clinical Trial.
Microarray analysis for constitutional cytogenetic abnormalities.
Shaffer LG, Beaudet AL, Brothman AR, Hirsch B, Levy B, Martin CL, Mascarello JT, Rao KW; Working Group of the Laboratory Quality Assurance Committee of the American College of Medical Genetics. Shaffer LG, et al. Among authors: martin cl. Genet Med. 2007 Sep;9(9):654-62. doi: 10.1097/gim.0b013e31814ce3d9. Genet Med. 2007. PMID: 17873655 Free article. No abstract available.
Cryptic telomere imbalance: a 15-year update.
Ledbetter DH, Martin CL. Ledbetter DH, et al. Among authors: martin cl. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):327-34. doi: 10.1002/ajmg.c.30149. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910073 Review.
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.
524 results