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129 results

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Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, Hirsch B, Jacky P, McDowell GA, Popovich B, Watson M, Wolff DJ. Maddalena A, et al. Among authors: brothman a. Genet Med. 2001 May-Jun;3(3):200-5. doi: 10.1097/00125817-200105000-00010. Genet Med. 2001. PMID: 11388762 Free PMC article.
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. Genet Med. 2007 Sep;9(9):654-62. doi: 10.1097/gim.0b013e31814ce3d9. Genet Med. 2007. PMID: 17873655 Free article. No abstract available.
Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years.
Brothman AR, Schneider NR, Saikevych I, Cooley LD, Butler MG, Patil S, Mascarello JT, Rao KW, Dewald GW, Park JP, Persons DL, Wolff DJ, Vance GH; Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics. Brothman AR, et al. Arch Pathol Lab Med. 2006 Jul;130(7):947-9. doi: 10.5858/2006-130-947-CHSRAR. Arch Pathol Lab Med. 2006. PMID: 16831047 Free 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: brothman ar. 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.
Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected].
Mascarello JT, Cooley LD, Davison K, Dewald GW, Brothman AR, Herrman M, Park JP, Persons DL, Rao KW, Schneider NR, Vance GH; Cytogenetics Resource Committee, College of the American Pathologists; Cytogenetics Resource Committee, American College of Medical Genetics. Mascarello JT, et al. Genet Med. 2003 Sep-Oct;5(5):370-7. doi: 10.1097/01.gim.0000086479.80559.ea. Genet Med. 2003. PMID: 14501832 Review.
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, Thorland EC, Aradhya S, Ledbetter DH, Martin CL. Kaminsky EB, et al. Among authors: brothman ar. Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9. Genet Med. 2011. PMID: 21844811 Free PMC article.
129 results