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Page 1
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: shuldiner ar. Science. 2016 Dec 23;354(6319):aaf6814. doi: 10.1126/science.aaf6814. Science. 2016. PMID: 28008009
Extent and distribution of linkage disequilibrium in the Old Order Amish.
Van Hout CV, Levin AM, Rampersaud E, Shen H, O'Connell JR, Mitchell BD, Shuldiner AR, Douglas JA. Van Hout CV, et al. Among authors: shuldiner ar. Genet Epidemiol. 2010 Feb;34(2):146-50. doi: 10.1002/gepi.20444. Genet Epidemiol. 2010. PMID: 19697356 Free PMC article.
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.
Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network. Gottesman O, et al. Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Genet Med. 2013. PMID: 23743551 Free PMC article. Review.
Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN).
Wojczynski MK, Parnell LD, Pollin TI, Lai CQ, Feitosa MF, O'Connell JR, Frazier-Wood AC, Gibson Q, Aslibekyan S, Ryan KA, Province MA, Tiwari HK, Ordovas JM, Shuldiner AR, Arnett DK, Borecki IB. Wojczynski MK, et al. Among authors: shuldiner ar. Metabolism. 2015 Oct;64(10):1359-71. doi: 10.1016/j.metabol.2015.07.001. Epub 2015 Jul 3. Metabolism. 2015. PMID: 26256467 Free PMC article.
The IGNITE network: a model for genomic medicine implementation and research.
Weitzel KW, Alexander M, Bernhardt BA, Calman N, Carey DJ, Cavallari LH, Field JR, Hauser D, Junkins HA, Levin PA, Levy K, Madden EB, Manolio TA, Odgis J, Orlando LA, Pyeritz R, Wu RR, Shuldiner AR, Bottinger EP, Denny JC, Dexter PR, Flockhart DA, Horowitz CR, Johnson JA, Kimmel SE, Levy MA, Pollin TI, Ginsburg GS; IGNITE Network. Weitzel KW, et al. Among authors: shuldiner ar. BMC Med Genomics. 2016 Jan 5;9:1. doi: 10.1186/s12920-015-0162-5. BMC Med Genomics. 2016. PMID: 26729011 Free PMC article.
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.
Dewey FE, Gusarova V, O'Dushlaine C, Gottesman O, Trejos J, Hunt C, Van Hout CV, Habegger L, Buckler D, Lai KM, Leader JB, Murray MF, Ritchie MD, Kirchner HL, Ledbetter DH, Penn J, Lopez A, Borecki IB, Overton JD, Reid JG, Carey DJ, Murphy AJ, Yancopoulos GD, Baras A, Gromada J, Shuldiner AR. Dewey FE, et al. Among authors: shuldiner ar. N Engl J Med. 2016 Mar 24;374(12):1123-33. doi: 10.1056/NEJMoa1510926. Epub 2016 Mar 2. N Engl J Med. 2016. PMID: 26933753 Free PMC article.
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.
Zanoni P, Khetarpal SA, Larach DB, Hancock-Cerutti WF, Millar JS, Cuchel M, DerOhannessian S, Kontush A, Surendran P, Saleheen D, Trompet S, Jukema JW, De Craen A, Deloukas P, Sattar N, Ford I, Packard C, Majumder Aa, Alam DS, Di Angelantonio E, Abecasis G, Chowdhury R, Erdmann J, Nordestgaard BG, Nielsen SF, Tybjærg-Hansen A, Schmidt RF, Kuulasmaa K, Liu DJ, Perola M, Blankenberg S, Salomaa V, Männistö S, Amouyel P, Arveiler D, Ferrieres J, Müller-Nurasyid M, Ferrario M, Kee F, Willer CJ, Samani N, Schunkert H, Butterworth AS, Howson JM, Peloso GM, Stitziel NO, Danesh J, Kathiresan S, Rader DJ; CHD Exome+ Consortium; CARDIoGRAM Exome Consortium; Global Lipids Genetics Consortium. Zanoni P, et al. Science. 2016 Mar 11;351(6278):1166-71. doi: 10.1126/science.aad3517. Science. 2016. PMID: 26965621 Free PMC article.
Variants in ANGPTL4 and the Risk of Coronary Artery Disease.
Dewey FE, Gromada J, Shuldiner AR. Dewey FE, et al. Among authors: shuldiner ar. N Engl J Med. 2016 Dec 8;375(23):2305-2306. doi: 10.1056/NEJMc1607380. N Engl J Med. 2016. PMID: 27959690 No abstract available.
545 results