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The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Tayeh MK, Chen M, Fullerton SM, Gonzales PR, Huang SJ, Massingham LJ, O'Daniel JM, Stewart DR, Stiles AR, Evans BJ; ACMG Laboratory Quality Assurance Committee and the ACMG Social, Ethical and Legal Issues Committee. Electronic address: documents@acmg.net. Tayeh MK, et al. Among authors: evans bj. Genet Med. 2023 Mar;25(3):100342. doi: 10.1016/j.gim.2022.11.010. Epub 2022 Dec 22. Genet Med. 2023. PMID: 36547466 Free article. No abstract available.
Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Jarvik GP, Amendola LM, Berg JS, Brothers K, Clayton EW, Chung W, Evans BJ, Evans JP, Fullerton SM, Gallego CJ, Garrison NA, Gray SW, Holm IA, Kullo IJ, Lehmann LS, McCarty C, Prows CA, Rehm HL, Sharp RR, Salama J, Sanderson S, Van Driest SL, Williams MS, Wolf SM, Wolf WA; eMERGE Act-ROR Committee and CERC Committee; CSER Act-ROR Working Group; Burke W. Jarvik GP, et al. Among authors: evans bj, evans jp. Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8. Am J Hum Genet. 2014. PMID: 24814192 Free PMC article.
Practical considerations for reinterpretation of individual genetic variants.
Appelbaum PS, Berger SM, Brokamp E, Brown HS, Burke W, Clayton EW, Evans BJ, Hamid R, Marchant GE, Martin DM, O'Connor BC, Pagán JA, Parens E, Roberts JL, Rowe J, Schneider J, Siegel K, Veenstra DL, Chung WK. Appelbaum PS, et al. Among authors: evans bj. Genet Med. 2023 May;25(5):100801. doi: 10.1016/j.gim.2023.100801. Epub 2023 Feb 4. Genet Med. 2023. PMID: 36748709 Free PMC article.
Does the law require reinterpretation and return of revised genomic results?
Clayton EW, Appelbaum PS, Chung WK, Marchant GE, Roberts JL, Evans BJ. Clayton EW, et al. Among authors: evans bj. Genet Med. 2021 May;23(5):833-836. doi: 10.1038/s41436-020-01065-x. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420344 Free PMC article. No abstract available.
296 results