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Methods-based proficiency testing in molecular genetic pathology.
Schrijver I, Aziz N, Jennings LJ, Richards CS, Voelkerding KV, Weck KE. Schrijver I, et al. Among authors: richards cs. J Mol Diagn. 2014 May;16(3):283-7. doi: 10.1016/j.jmoldx.2014.02.002. Epub 2014 Mar 18. J Mol Diagn. 2014. PMID: 24650895 Free article.
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, Pyatt RE, Stonerock E, Johnson MA, Richards CS, Schrijver I, Ma T, Miller VR, Adadevoh Y, Furlong P, Beiswanger C, Toji L. Kalman L, et al. Among authors: richards cs. J Mol Diagn. 2011 Mar;13(2):167-74. doi: 10.1016/j.jmoldx.2010.11.018. J Mol Diagn. 2011. PMID: 21354051 Free PMC article.
Response to Biesecker and Harrison.
Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015. Richards CS, et al. Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. Genet Med. 2018. PMID: 29543230 Free article. No abstract available.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick D, Bowling KM, Chao EC, Chung WK, Conlin LK, Cooper GM, Das S, Deignan JL, Dorschner MO, Evans JP, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Hindorff LA, Holm IA, Jarvik GP, Knight Johnson A, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. O'Daniel JM, et al. Among authors: richards cs. Genet Med. 2017 May;19(5):575-582. doi: 10.1038/gim.2016.152. Epub 2016 Nov 3. Genet Med. 2017. PMID: 27811861 Free PMC article.
208 results