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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: chen m. 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.
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Best RG, Khushf G, Rabin-Havt SS, Clayton EW, Grebe TA, Hagenkord J, Topper S, Fivecoat J, Chen M, Grody WW; ACMG Social, Ethical and Legal Issues Committee. Electronic address: documents@acmg.net. Best RG, et al. Among authors: chen m. Genet Med. 2022 Mar;24(3):509-511. doi: 10.1016/j.gim.2021.11.001. Epub 2021 Dec 16. Genet Med. 2022. PMID: 35253644 Free article. No abstract available.
The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Grebe TA, Khushf G, Chen M, Bailey D, Brenman LM, Williams MS, Seaver LH; ACMG Social, Ethical and Legal Issues Committee. Grebe TA, et al. Among authors: chen m. Genet Med. 2020 Sep;22(9):1431-1436. doi: 10.1038/s41436-020-0841-2. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475985 Free article. No abstract available.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: chen m. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Syndrome of mental retardation and distal arthrogryposis in sibs.
Chitayat D, Hodgkinson KA, Blaichman S, Chen ME, Watters GV, Khalife S, Hall JG. Chitayat D, et al. Among authors: chen me. Am J Med Genet. 1991 Oct 1;41(1):49-51. doi: 10.1002/ajmg.1320410114. Am J Med Genet. 1991. PMID: 1951463
An updated framework for SARS-CoV-2 variants reflects the unpredictability of viral evolution.
Subissi L, Otieno JR, Worp N, Attar Cohen H, Oude Munnink BB, Abu-Raddad LJ, Alm E, Barakat A, Barclay WS, Bhiman JN, Caly L, Chand M, Chen M, Cullinane A, de Oliveira T, Drosten C, Druce J, Effler P, El Masry I, Faye A, Ghedin E, Grant R, Haagmans BL, Happi C, Herring BL, Hodcroft EB, Ikejezie J, Katawera V, Kassamali ZA, Leo YS, Leung GM, Kondor RJ, Marklewitz M, Mendez-Rico J, Melhem NM, Munster V, Nahapetyan K, Naindoo D, Oh DY, Peacock TP, Peiris M, Peng Z, Poon LLM, Rambaut A, Saha S, Shen Y, Siqueira MM, Volz E, Tessema SK, Thiel V, Triki H, van der Werf S, von Eije K, Cunningham J, Koopmans MPG, von Gottberg A, Agrawal A, Van Kerkhove MD. Subissi L, et al. Among authors: chen m. Nat Med. 2024 May 8. doi: 10.1038/s41591-024-02949-0. Online ahead of print. Nat Med. 2024. PMID: 38720002 No abstract available.
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