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  • Showing 1-7 of 7 Results
2013
Targeted exome sequencing of suspected mitochondrial disorders.Lieber, DS, Calvo SE, Shanahan K., Slate NG, Liu S., Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, and Mootha VK Neurology, 2013/05/07, Volume 80, Issue 19, p.1762-1770, (2013) Read More / View Supplemental Materials
Abstract
2012
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
RNA signatures allow rapid identification of pathogens and antibiotic susceptibilities.Barczak, AK, Gomez JE, Kaufmann BB, Hinson ER, Cosimi L., Borowsky ML, Onderdonk AB, Stanley SA, Kaur D., Bryant KF, Knipe DM, Sloutsky A., and Hung DT Proceedings of the National Academy of Sciences of the United States of America, 2012/04/17, Volume 109, Issue 16, p.6217-22, (2012) Read More / View Supplemental Materials
Abstract
2006
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.Zody, MC, Garber M., Adams DJ, Sharpe T., Harrow J., Lupski JR, Nicholson C., Searle SM, Wilming L., Young SK, Abouelleil A., Allen NR, Bi W., Bloom T., Borowsky ML, Bugalter BE, Butler J., Chang JL, Chen CK, Cook A., et al. Nature, 2006/04/20, Volume 440, Issue 7087, p.1045-9, (2006) Read More / View Supplemental Materials
Abstract
Analysis of the DNA sequence and duplication history of human chromosome 15.Zody, MC, Garber M., Sharpe T., Young SK, Rowen L., O'Neill K., Whittaker CA, Kamal M., Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Kodira CD, Madan A., Qin S., Yang X., Abbasi N., Abouelleil A., Arachchi HM, Baradarani L., et al. Nature, 2006/03/30, Volume 440, Issue 7084, p.671-5, (2006) Read More / View Supplemental Materials
Abstract
DNA sequence and analysis of human chromosome 8.Nusbaum, C., Mikkelsen TS, Zody MC, Asakawa S., Taudien S., Garber M., Kodira CD, Schueler MG, Shimizu A., Whittaker CA, Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Yang X., Allen NR, Anderson S., Asakawa T., Blechschmidt K., Bloom T., et al. Nature, 2006/01/19, Volume 439, Issue 7074, p.331-5, (2006) Read More / View Supplemental Materials
Abstract
2005
DNA sequence and analysis of human chromosome 18.Nusbaum, C., Zody MC, Borowsky ML, Kamal M., Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Yang X., Abouelleil A., Allen NR, Anderson S., Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., et al. Nature, 2005/09/22, Volume 437, Issue 7058, p.551-5, (2005) Read More / View Supplemental Materials
Abstract
  • Showing 1-7 of 7 Results