Iossifov, I., M. Ronemus, D. Levy, Z. Wang, I. Hakker, J. Rosenbaum, B. Yamrom, Y. H. Lee, G. Narzisi, A. Leotta, J. Kendall, E. Grabowska, B. Ma, S. Marks, L. Rodgers, A. Stepansky, J. Troge, P. Andrews, M. Bekritsky, K. Pradhan, E. Ghiban, M. Kramer, J. Parla, R. Demeter, L. L. Fulton, R. S. Fulton, V. J. Magrini, K. Ye, J. C. Darnell, R. B. Darnell, E. R. Mardis, R. K. Wilson, M. C. Schatz, W. R. McCombie, and M. Wigler. 2012. De novo gene disruptions in children on the autistic spectrum. Neuron 74(2):285–299.

Kodama, K., M. Horikoshi, K. Toda, S. Yamada, K. Hara, J. Irie, M. Sirota, A. A. Morgan, R. Chen, H. Ohtsu, S. Maeda, T. Kadowaki, and A. J. Butte. 2012. Expression-based genome-wide association study links the receptor CD44 in adipose tissue with type 2 diabetes. Proc Natl Acad Sci USA 109(18):7049–7054.

Li, H., K. A. Robinson, B. Anton, I. J. Saldanha, and P. W. Ladenson. 2011. Cost-effectiveness of a novel molecular test for cytologically indeterminate thyroid nodules. J Clin Endocrinol Metab 96(11): E1719–E1726.

Liew, W. K., and P. B. Kang. 2013. Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. Ther Adv Neurol Disord 6(3):147–160.

Mankoff, S. P., C. Brander, S. Ferrone, and F. M. Marincola. 2004. Lost in translation: Obstacles to translational medicine. J Transl Med 2(1):14–18.

McAlpine, J. N., K. C. Wiegand, R. Vang, B. M. Ronnett, A. Adamiak, M. Kobel, S. E. Kalloger, K. D. Swenerton, D. G. Huntsman, C. B. Gilks, and D. M. Miller. 2009. Her2 overexpression and amplification is present in a subset of ovarian mucinous carcinomas and can be targeted with trastuzumab therapy. BMC Cancer 9:433.

NRC (National Research Council). 2011. Toward precision medicine: Building a knowledge network for biomedical research and a new taxonomy of disease. Washington, DC: The National Academies Press.

O’Roak, B. J., L. Vives, S. Girirajan, E. Karakoc, N. Krumm, B. P. Coe, R. Levy, A. Ko, C. Lee, J. D. Smith, E. H. Turner, I. B. Stanaway, B. Vernot, M. Malig, C. Baker, B. Reilly, J. M. Akey, E. Borenstein, M. J. Rieder, D. A. Nickerson, R. Bernier, J. Shendure, and E. E. Eichler. 2012. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485(7397):246–250.

PCAST (President’s Council of Advisors on Science and Technology). 2012. Report to the President on propelling innovation in drug discovery, development, and evaluation. Washington, DC: Executive Office of the President.

Sanders, S. J., M. T. Murtha, A. R. Gupta, J. D. Murdoch, M. J. Raubeson, A. J. Willsey, A. G. Ercan-Sencicek, N. M. DiLullo, N. N. Parikshak, J. L. Stein, M. F. Walker, G. T. Ober, N. A. Teran, Y. Song, P. El-Fishawy, R. C. Murtha, M. Choi, J. D. Overton, R. D. Bjornson, N. J. Carriero, K. A. Meyer, K. Bilguvar, S. M. Mane, N. Sestan, R. P. Lifton, M. Gunel, K. Roeder, D. H. Geschwind, B. Devlin, and M. W. State. 2012. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485(7397):237–241.

Waldrop, M. M. 2011. Research at Janelia: Life on the farm. Five years in, has a lofty experiment in interdisciplinary research paid off? Nature 479:284–286.



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