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Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
Spector EB, Grody WW, Matteson CJ, Palomaki GE, Bellissimo DB, Wolff DJ, Bradley LA, Prior TW, Feldman G, Popovich BW, Watson MS, Richards CS. Spector EB, et al. Genet Med. 2005 Jul-Aug;7(6):444-53. doi: 10.1097/01.gim.0000172641.57755.3a. Genet Med. 2005. PMID: 16024978
Development of genomic reference materials for Huntington disease genetic testing.
Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. Kalman L, et al. Genet Med. 2007 Oct;9(10):719-23. doi: 10.1097/gim.0b013e318156e8c1. Genet Med. 2007. PMID: 18073586 Free article.
Genetically characterized positive control cell lines derived from residual clinical blood samples.
Bernacki SH, Beck JC, Stankovic AK, Williams LO, Amos J, Snow-Bailey K, Farkas DH, Friez MJ, Hantash FM, Matteson KJ, Monaghan KG, Muralidharan K, Pratt VM, Prior TW, Richie KL, Levin BC, Rohlfs EM, Schaefer FV, Shrimpton AE, Spector EB, Stolle CA, Strom CM, Thibodeau SN, Cole EC, Goodman BK, Stenzel TT. Bernacki SH, et al. Among authors: spector eb. Clin Chem. 2005 Nov;51(11):2013-24. doi: 10.1373/clinchem.2005.048694. Epub 2005 Sep 15. Clin Chem. 2005. PMID: 16166172
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Zhang S, Taylor AK, Huang X, Luo B, Spector EB, Fang P, Richards CS; ACMG Laboratory Quality Assurance Committee. Zhang S, et al. Among authors: spector eb. Genet Med. 2018 Dec;20(12):1489-1498. doi: 10.1038/s41436-018-0322-z. Epub 2018 Oct 5. Genet Med. 2018. PMID: 30297698 Free article.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
Monaghan KG, Lyon E, Spector EB; erican College of Medical Genetics and Genomics. Monaghan KG, et al. Among authors: spector eb. Genet Med. 2013 Jul;15(7):575-86. doi: 10.1038/gim.2013.61. Epub 2013 Jun 13. Genet Med. 2013. PMID: 23765048 Free article.
85 results