Michael F. Murray

• Allen Bale

Genome; Precision Medicine; Population Health

• A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers.Ayers KL, Mirshahi UL, Wardeh AH, Murray MF, Hao K, Glicksberg BS, Li S, Carey DJ, Chen R. A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE ε4 allele carriers. BMC Genomics 2016, 17 Suppl 2: 445. PMID: 27358062, PMCID: PMC4928152, DOI: 10.1186/s12864-016-2725-z.
• 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. Genetic identification of familial hypercholesterolemia within a single U.S. health care system. Science (New York, N.Y.) 2016, 354 PMID: 28008010, DOI: 10.1126/science.aaf7000.
• Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.Dewey FE, Gusarova V, Dunbar RL, O'Dushlaine C, Schurmann C, Gottesman O, McCarthy S, Van Hout CV, Bruse S, Dansky HM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Habegger L, Lopez A, Penn J, Zhao A, Shao W, Stahl N, Murphy AJ, Hamon S, Bouzelmat A, Zhang R, Shumel B, Pordy R, Gipe D, Herman GA, Sheu WHH, Lee IT, Liang KW, Guo X, Rotter JI, Chen YI, Kraus WE, Shah SH, Damrauer S, Small A, Rader DJ, Wulff AB, Nordestgaard BG, Tybjærg-Hansen A, van den Hoek AM, Princen HMG, Ledbetter DH, Carey DJ, Overton JD, Reid JG, Sasiela WJ, Banerjee P, Shuldiner AR, Borecki IB, Teslovich TM, Yancopoulos GD, Mellis SJ, Gromada J, Baras A. Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease. The New England Journal Of Medicine 2017, 377: 211-221. PMID: 28538136, PMCID: PMC5800308, DOI: 10.1056/NEJMoa1612790.
• 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. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. American Journal Of Human Genetics 2017, 100: 895-906. PMID: 28552198, PMCID: PMC5473734, DOI: 10.1016/j.ajhg.2017.04.015.
• 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. A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort. American Journal Of Human Genetics 2018, 103: 328-337. PMID: 30100086, PMCID: PMC6128218, DOI: 10.1016/j.ajhg.2018.07.009.
• 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. Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants. JAMA Network Open 2018, 1: e182140. PMID: 30646163, PMCID: PMC6324494, DOI: 10.1001/jamanetworkopen.2018.2140.
• Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.Choi SH, Weng LC, Roselli C, Lin H, Haggerty CM, Shoemaker MB, Barnard J, Arking DE, Chasman DI, Albert CM, Chaffin M, Tucker NR, Smith JD, Gupta N, Gabriel S, Margolin L, Shea MA, Shaffer CM, Yoneda ZT, Boerwinkle E, Smith NL, Silverman EK, Redline S, Vasan RS, Burchard EG, Gogarten SM, Laurie C, Blackwell TW, Abecasis G, Carey DJ, Fornwalt BK, Smelser DT, Baras A, Dewey FE, Jaquish CE, Papanicolaou GJ, Sotoodehnia N, Van Wagoner DR, Psaty BM, Kathiresan S, Darbar D, Alonso A, Heckbert SR, Chung MK, Roden DM, Benjamin EJ, Murray MF, Lunetta KL, Lubitz SA, Ellinor PT. Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. JAMA 2018, 320: 2354-2364. PMID: 30535219, PMCID: PMC6436530, DOI: 10.1001/jama.2018.18179.
• DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps.Murray MF, Evans JP, Khoury MJ. DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. JAMA 2020, 323: 307-308. PMID: 31808788, DOI: 10.1001/jama.2019.18640.
• COVID-19 outcomes and the human genome.Murray MF, Kenny EE, Ritchie MD, Rader DJ, Bale AE, Giovanni MA, Abul-Husn NS. COVID-19 outcomes and the human genome. Genetics In Medicine : Official Journal Of The American College Of Medical Genetics 2020, 22: 1175-1177. PMID: 32393819, PMCID: PMC8629441, DOI: 10.1038/s41436-020-0832-3.
• 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. Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study. Science (New York, N.Y.) 2016, 354 PMID: 28008009, DOI: 10.1126/science.aaf6814.
• Bringing monogenic disease screening to the clinic.Murray MF, Giovanni MA. Bringing monogenic disease screening to the clinic. Nature Medicine 2020, 26: 1172-1174. PMID: 32733075, DOI: 10.1038/s41591-020-1017-y.