Gollust, S. E., E. S. Gordon, C. Zayac, G. Griffin, M. F. Christman, R. E. Pyeritz, L. Wawak, and B.A. Bernhardt. 2011. Motivations and perceptions of early adopters of personalized genomics: Perspectives from research participants. Public Health Genomics 15(1):22–30.

Gong, I. Y., R. G. Tirona, U. I. Schwarz, N. Crown, G. K. Dresser, S. Larue, N. Langlois, A. Lazo-Langner, G. Zou, D. M. Roden, C. M. Stein, M. Rodger, M. Carrier, M. Forgie, P. S. Wells, and R. B. Kim. 2011. Prospective evaluation of a pharmacogenetics-guided warfarin loading and maintenance dose regimen for initiation of therapy. Blood 118(11):3163–3171.

Green, E. D., and M. S. Guyer. 2011. Charting a course for genomic medicine from base pairs to bedside. Nature 470(7333):204–213.

Hagenkord, J. M., F. A. Monzon, S. F. Kash, S. Lilleberg, Q. Xie, and J. A. Kant. 2010. Array-based karyotyping for prognostic assessment in chronic lymphocytic leukemia: Performance comparison of Affymetrix 10K2.0, 250K Nsp, and SNP6.0 arrays. Journal of Molecular Diagnostics 12(2):184–196.

Hughes, A. R., W. R. Spreen, M. Mosteller, L. L. Warren, E. H. Lai, C. H. Brothers, C. Cox, A. J. Nelsen, S. Hughes, D. E. Thorborn, B. Stancil, S. V. Hetherington, D. K. Burns, and A. D. Roses. 2008. Pharmacogenetics of hypersensitivity to abacavir: From PGx hypothesis to confirmation to clinical utility. The Pharmacogenomics Journal 8(6):365–374.

Jaeken, J. 2011. Congenital disorders of glycosylation (CDG): It’s (nearly) all in it! Journal of Inherited Metabolic Disease 34(4):853–858.

Jones, S. J., J. Laskin, Y. Y. Li, O. L. Griffith, J. An, M. Bilenky, Y. S. Butterfield, T. Cezard, E. Chuah, R. Corbett, A. P. Fejes, M. Griffith, J. Yee, M. Martin, M. Mayo, N. Melnyk, R. D. Morin, T. J. Pugh, T. Severson, S. P. Shah, M. Sutcliffe, A. Tam, J. Terry, N. Thiessen, T. Thomson, R. Varhol, T. Zeng, Y. Zhao, R. A. Moore, D. G. Huntsman, I. Birol, M. Hirst, R. A. Holt, and M. A. Marra. 2010. Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors. Genome Biology 11(8):R82.

Kohane, I. S., K. D. Mandl, P. L. Taylor, I. A. Holm, D. J. Nigrin, and L. M. Kunkel. 2007. Medicine: Reestablishing the researcher–patient compact. Science 316(5826):836–837.

Lindhurst, M. J., J. C. Sapp, J. K. Teer, J. J. Johnston, E. M. Finn, K. Peters, J. Turner, J. L. Cannons, D. Bick, L. Blakemore, C. Blumhorst, K. Brockmann, P. Calder, N. Cherman, M. A. Deardorff, D. B. Everman, G. Golas, R. M. Greenstein, B. M. Kato, K. M. Keppler-Noreuil, S. A. Kuznetsov, R. T. Miyamoto, K. Newman, D. Ng, K. O’Brien, S. Rothenberg, D. J. Schwartzentruber, V. Singhal, R. Tirabosco, J. Upton, S. Wientroub, E. H. Zackai, K. Hoag, T. Whitewood-Neal, P. G. Robey, P. L. Schwartzberg, T. N. Darling, L. L. Tosi, J. C. Mullikin, and L. G. Biesecker. 2011. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. New England Journal of Medicine 365(7):611–619.

Lohmueller, K. E., A. R. Indap, S. Schmidt, A. R. Boyko, R. D. Hernandez, M. J. Hubisz, J. J. Sninsky, T. J. White, S. R. Sunyaev, R. Nielsen, A. G. Clark, and C. D. Bustamante. 2008. Proportionally more deleterious genetic variation in European than in African populations. Nature 451(7181):994–997.

Lupski, J. R., J. G. Reid, C. Gonzaga-Jauregui, D. Rio Deiros, D. C. Chen, L. Nazareth, M. Bainbridge, H. Dinh, C. Jing, D. A. Wheeler, A. L. McGuire, F. Zhang, P. Stankiewicz, J. J. Halperin, C. Yang, C. Gehman, D. Guo, R. K. Irikat, W. Tom, N. J. Fantin, D. M. Muzny, and R. A. Gibbs. 2010. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine 362(13):1181–1191.

Lyssenko, V., A. Jonsson, P. Almgren, N. Pulizzi, B. Isomaa, T. Tuomi, G. Berglund, D. Altshuler, P. Nilsson, and L. Groop. 2008. Clinical risk factors, DNA variants, and the development of type 2 diabetes. New England Journal of Medicine 359(21):2220–2232.

Mardis, E. R. 2006. Anticipating the 1,000 dollar genome. Genome Biology 7(7):112.



The National Academies | 500 Fifth St. N.W. | Washington, D.C. 20001
Copyright © National Academy of Sciences. All rights reserved.
Terms of Use and Privacy Statement