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  • Showing 1-8 of 8 Results
2014
A comparative encyclopedia of DNA elements in the mouse genome.Yue, F., Cheng Y., Breschi A., Vierstra J., Wu W., Ryba T., Sandstrom R., Ma Z., Davis C., Pope BD, Shen Y., Pervouchine DD, Djebali S., Thurman RE, Kaul R., Rynes E., Kirilusha A., Marinov GK, Williams BA, Trout D., et al. Nature, 2014/11/20, Volume 515, Issue 7527, p.355-64, (2014) Read More / View Supplemental Materials
Abstract
Somatic Mutations in Cerebral Cortical Malformations.Jamuar, SS, Lam AT, Kircher M., D'Gama AM, Wang J., Barry BJ, Zhang X., Hill RS, Partlow JN, Rozzo A., Servattalab S., Mehta BK, Topcu M., Amrom D., Andermann E., Dan B., Parrini E., Guerrini R., Scheffer IE, Berkovic SF, et al. The New England journal of medicine, 2014/08/21, Volume 371, Issue 8, p.733-743, (2014) Read More / View Supplemental Materials
Abstract
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
2012
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.Talkowski, ME, Maussion G., Crapper L., Rosenfeld JA, Blumenthal I., Hanscom C., Chiang C., Lindgren A., Pereira S., Ruderfer D., Diallo AB, Lopez JP, Turecki G., Chen ES, Gigek C., Harris DJ, Lip V., An Y., Biagioli M., Macdonald ME, et al. American journal of human genetics, 2012/12/07, Volume 91, Issue 6, p.1128-34, (2012) Read More / View Supplemental Materials
Abstract
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.Talkowski, ME, Rosenfeld JA, Blumenthal I., Pillalamarri V., Chiang C., Heilbut A., Ernst C., Hanscom C., Rossin E., Lindgren AM, Pereira S., Ruderfer D., Kirby A., Ripke S., Harris DJ, Lee JH, Ha K., Kim HG, Solomon BD, Gropman AL, et al. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012) 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 public genome-scale lentiviral expression library of human ORFs.Yang, X., Boehm JS, Yang X., Salehi-Ashtiani K., Hao T., Shen Y., Lubonja R., Thomas SR, Alkan O., Bhimdi T., Green TM, Johannessen CM, Silver SJ, Nguyen C., Murray RR, Hieronymus H., Balcha D., Fan C., Lin C., Ghamsari L., et al. Nature methods, 2011/06/26, Volume 8, Issue 8, p.659-61, (2011) Read More / View Supplemental Materials
Abstract
2007
Genome-wide detection and characterization of positive selection in human populations.Sabeti, PC, Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne EH, McCarroll SA, Gaudet R., Schaffner SF, Lander E. S., International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, et al. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007) Read More / View Supplemental Materials
Abstract
  • Showing 1-8 of 8 Results