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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.
Genome-first findings require precision phenotyping.
Giovanni MA, Murray MF. Giovanni MA, et al. Genet Med. 2018 Dec;20(12):1510-1511. doi: 10.1038/s41436-018-0026-4. Epub 2018 Jun 8. Genet Med. 2018. PMID: 29884840 Free article. No abstract available.
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.
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.
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Schwartz MLB, McCormick CZ, Lazzeri AL, Lindbuchler DM, Hallquist MLG, Manickam K, Buchanan AH, Rahm AK, Giovanni MA, Frisbie L, Flansburg CN, Davis FD, Sturm AC, Nicastro C, Lebo MS, Mason-Suares H, Mahanta LM, Carey DJ, Williams JL, Williams MS, Ledbetter DH, Faucett WA, Murray MF. Schwartz MLB, et al. Among authors: giovanni ma. Am J Hum Genet. 2018 Sep 6;103(3):328-337. doi: 10.1016/j.ajhg.2018.07.009. Epub 2018 Aug 9. Am J Hum Genet. 2018. PMID: 30100086 Free PMC article.
21 results