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21 results

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Page 1
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
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
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.
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Manickam K, Buchanan AH, Schwartz MLB, Hallquist MLG, Williams JL, Rahm AK, Rocha H, Savatt JM, Evans AE, Butry LM, Lazzeri AL, Lindbuchler DM, Flansburg CN, Leeming R, Vogel VG, Lebo MS, Mason-Suares HM, Hoskinson DC, Abul-Husn NS, Dewey FE, Overton JD, Reid JG, Baras A, Willard HF, McCormick CZ, Krishnamurthy SB, Hartzel DN, Kost KA, Lavage DR, Sturm AC, Frisbie LR, Person TN, Metpally RP, Giovanni MA, Lowry LE, Leader JB, Ritchie MD, Carey DJ, Justice AE, Kirchner HL, Faucett WA, Williams MS, Ledbetter DH, Murray MF. Manickam K, et al. Among authors: giovanni ma. JAMA Netw Open. 2018 Sep 7;1(5):e182140. doi: 10.1001/jamanetworkopen.2018.2140. JAMA Netw Open. 2018. PMID: 30646163 Free PMC article.
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.
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.
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.
COVID-19 outcomes and the human genome.
Murray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-Husn NS. Murray MF, et al. Among authors: giovanni ma. Genet Med. 2020 Jul;22(7):1175-1177. doi: 10.1038/s41436-020-0832-3. Epub 2020 May 12. Genet Med. 2020. PMID: 32393819 Free PMC article. No abstract available.
21 results