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Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG).
South ST, McClure M, Astbury C, Bashford MT, Benkendorf J, Esplin ED, Monaghan KG, Oglesbee D, Sutton VR, Watson MS; ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines Committees. South ST, et al. Among authors: astbury c. Genet Med. 2020 Jun;22(6):983-985. doi: 10.1038/s41436-020-0765-x. Epub 2020 Mar 4. Genet Med. 2020. PMID: 32127695 Free article. No abstract available.
Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Deignan JL, Astbury C, Behlmann A, Guha S, Monaghan KG, Reddi HV, Seifert BA, Tayeh M, Wakeling E; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Among authors: astbury c. Genet Med. 2021 Dec;23(12):2462. doi: 10.1038/s41436-020-00961-6. Epub 2020 Oct 13. Genet Med. 2021. PMID: 33046848 Free article. No abstract available.
Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Chao EC, Astbury C, Deignan JL, Pronold M, Reddi HV, Weitzel JN; ACMG Laboratory Quality Assurance Committee. Chao EC, et al. Among authors: astbury c. Genet Med. 2021 Jul;23(7):1179-1184. doi: 10.1038/s41436-021-01138-5. Epub 2021 Apr 16. Genet Med. 2021. PMID: 33864022 Free article. No abstract available.
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Raca G, Astbury C, Behlmann A, De Castro MJ, Hickey SE, Karaca E, Lowther C, Riggs ER, Seifert BA, Thorland EC, Deignan JL; ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. Raca G, et al. Among authors: astbury c. Genet Med. 2023 Feb;25(2):100316. doi: 10.1016/j.gim.2022.09.017. Epub 2022 Dec 12. Genet Med. 2023. PMID: 36507974 Free article. No abstract available.
106 results