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Page 1
Risks of presymptomatic direct-to-consumer genetic testing.
Annes JP, Giovanni MA, Murray MF. Annes JP, et al. Among authors: giovanni ma. N Engl J Med. 2010 Sep 16;363(12):1100-1. doi: 10.1056/NEJMp1006029. Epub 2010 Aug 18. N Engl J Med. 2010. PMID: 20843242 Free PMC article. No abstract available.
Health-care referrals from direct-to-consumer genetic testing.
Giovanni MA, Fickie MR, Lehmann LS, Green RC, Meckley LM, Veenstra D, Murray MF. Giovanni MA, et al. Genet Test Mol Biomarkers. 2010 Dec;14(6):817-9. doi: 10.1089/gtmb.2010.0051. Epub 2010 Oct 28. Genet Test Mol Biomarkers. 2010. PMID: 20979566 Free PMC article.
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE, Murray MF, Overton JD, Habegger L, Leader JB, Fetterolf SN, O'Dushlaine C, Van Hout CV, Staples J, Gonzaga-Jauregui C, Metpally R, Pendergrass SA, Giovanni MA, Kirchner HL, Balasubramanian S, Abul-Husn NS, Hartzel DN, Lavage DR, Kost KA, Packer JS, Lopez AE, Penn J, Mukherjee S, Gosalia N, Kanagaraj M, Li AH, Mitnaul LJ, Adams LJ, Person TN, Praveen K, Marcketta A, Lebo MS, Austin-Tse CA, Mason-Suares HM, Bruse S, Mellis S, Phillips R, Stahl N, Murphy A, Economides A, Skelding KA, Still CD, Elmore JR, Borecki IB, Yancopoulos GD, Davis FD, Faucett WA, Gottesman O, Ritchie MD, Shuldiner AR, Reid JG, Ledbetter DH, Baras A, Carey DJ. Dewey FE, et al. Among authors: giovanni ma. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Abul-Husn NS, Manickam K, Jones LK, Wright EA, Hartzel DN, Gonzaga-Jauregui C, O'Dushlaine C, Leader JB, Lester Kirchner H, Lindbuchler DM, Barr ML, Giovanni MA, Ritchie MD, Overton JD, Reid JG, Metpally RP, Wardeh AH, Borecki IB, Yancopoulos GD, Baras A, Shuldiner AR, Gottesman O, Ledbetter DH, Carey DJ, Dewey FE, Murray MF. Abul-Husn NS, et al. Among authors: giovanni ma. Science. 2016 Dec 23;354(6319):aaf7000. doi: 10.1126/science.aaf7000. Science. 2016. PMID: 28008010
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Among authors: giovanni ma. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
Bringing monogenic disease screening to the clinic.
Murray MF, Giovanni MA. Murray MF, et al. Among authors: giovanni ma. Nat Med. 2020 Aug;26(8):1172-1174. doi: 10.1038/s41591-020-1017-y. Nat Med. 2020. PMID: 32733075 No abstract available.
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).
Murray MF, Giovanni MA, Doyle DL, Harrison SM, Lyon E, Manickam K, Monaghan KG, Rasmussen SA, Scheuner MT, Palomaki GE, Watson MS; ACMG Board of Directors. Murray MF, et al. Among authors: giovanni ma. Genet Med. 2021 Jun;23(6):989-995. doi: 10.1038/s41436-020-01082-w. Epub 2021 Mar 16. Genet Med. 2021. PMID: 33727704 Free article. No abstract available.
21 results