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2013
A Novel Deletion of IGF1 in a Patient With Idiopathic Short Stature Provides Insight Into IGF1 Haploinsufficiency.Batey, L., Moon JE, Yu Y., Wu B., Hirschhorn JN, Shen Y., and Dauber A. The Journal of clinical endocrinology and metabolism, 2013/11/15, (2013) Read More / View Supplemental Materials
Abstract
2011
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions.Dauber, A., Yu Y., Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y., Wu BL, and Hirschhorn JN American journal of human genetics, 2011/12/09, Volume 89, Issue 6, p.751-9, (2011) Read More / View Supplemental Materials
Abstract
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Raychaudhuri, S., Iartchouk O., Chin K., Tan PL, Tai AK, Ripke S., Gowrisankar S., Vemuri S., Montgomery K., Yu Y., Reynolds R., Zack DJ, Campochiaro B., Campochiaro P., Katsanis N., Daly M. J., and Seddon JM Nature genetics, 2011/10/23, Volume 43, Issue 12, p.1232-6, (2011) Read More / View Supplemental Materials
Abstract
2010
International network of cancer genome projects.International Cancer Genome, Consortium, Hudson T. J., Anderson W., Artez A., Barker AD, Bell C., Bernabé RR, Bhan MK, Calvo F., Eerola I., Gerhard DS, Guttmacher A., Guyer M., Hemsley FM, Jennings JL, Kerr D., Klatt P., Kolar P., Kusada J., Lane DP, et al. Nature, 2010/04/15, Volume 464, Issue 7291, p.993-8, (2010) Read More / View Supplemental Materials
Abstract
2007
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.ENCODE Project, Consortium, Birney E., Stamatoyannopoulos JA, Dutta A., Guigó R., Gingeras TR, Margulies EH, Weng Z., Snyder M., Dermitzakis ET, Thurman RE, Kuehn MS, Taylor CM, Neph S., Koch CM, Asthana S., Malhotra A., Adzhubei I., Greenbaum JA, Andrews RM, et al. Nature, 2007/06/14, Volume 447, Issue 7146, p.799-816, (2007) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results