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2014
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
Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.Du, M., Auer PL, Jiao S., Haessler J., Altshuler D., Boerwinkle E., Carlson CS, Carty CL, Chen YD, Curtis K., Franceschini N., Hsu L., Jackson R., Lange LA, Lettre G., Monda KL, and National Heart, Lung Blood Institute(NHLBI) GO Exome Sequencing Project, Nickerson DA, Reiner AP, Rich SS, et al. Human molecular genetics, 2014/07/15, (2014) Read More / View Supplemental Materials
Abstract
Loss-of-function mutations in APOC3, triglycerides, and coronary disease.and TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung Blood Institute, Crosby J., Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y., Tang ZZ, Zhang H., Hindy G., Masca N., Stirrups K., Kanoni S., Do R., Jun G., Hu Y., Kang HM, Xue C., Goel A., et al. The New England journal of medicine, 2014/07/03, Volume 371, Issue 1, p.22-31, (2014) Read More / View Supplemental Materials
Abstract
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.Lange, LA, Hu Y., Zhang H., Xue C., Schmidt EM, Tang ZZ, Bizon C., Lange EM, Smith JD, Turner EH, Jun G., Kang HM, Peloso G., Auer P., Li KP, Flannick J., Zhang J., Fuchsberger C., Gaulton K., Lindgren C., et al. American journal of human genetics, 2014/02/06, Volume 94, Issue 2, p.233-45, (2014) Read More / View Supplemental Materials
Abstract
2008
Mapping and sequencing of structural variation from eight human genomes.Kidd, JM, Cooper GM, Donahue WF, Hayden HS, Sampas N., Graves T., Hansen N., Teague B., Alkan C., Antonacci F., Haugen E., Zerr T., Yamada NA, Tsang P., Newman TL, Tüzün E., Cheng Z., Ebling HM, Tusneem N., David R., et al. Nature, 2008/05/01, Volume 453, Issue 7191, p.56-64, (2008) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results