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2014
Recommendations From the International Stroke Genetics Consortium, Part 2: Biological Sample Collection and Storage.Battey, TW, Valant V., Kassis SB, Kourkoulis C., Lee C., Anderson CD, Falcone GJ, Jimenez-Conde J., Fernandez-Cadenas I., Pare G., Rundek T., James ML, Lemmens R., Lee TH, Tatlisumak T., Kittner SJ, Lindgren A., Mateen FJ, Berkowitz AL, Holliday EG, et al. Stroke; a journal of cerebral circulation, 2014/12/09, (2014) Read More / View Supplemental Materials
Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.Brand, H., Pillalamarri V., Collins RL, Eggert S., O'Dushlaine C., Braaten EB, Stone MR, Chambert K., Doty ND, Hanscom C., Rosenfeld JA, Ditmars H., Blais J., Mills R., Lee C., Gusella JF, McCarroll S., Smoller JW, Talkowski ME, and Doyle AE American journal of human genetics, 2014/10/02, Volume 95, Issue 4, p.454-61, (2014) Read More / View Supplemental Materials
Abstract
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.Longoni, M., High FA, Russell MK, Kashani A., Tracy AA, Coletti CM, Hila R., Shamia A., Wells J., Ackerman KG, Wilson JM, Bult CJ, Lee C., Lage K., Pober BR, and Donahoe PK Proceedings of the National Academy of Sciences of the United States of America, 2014/08/08, (2014) Read More / View Supplemental Materials
Abstract
Demonstrating the feasibility of large-scale development of standardized assays to quantify human proteins.Kennedy, JJ, Abbatiello SE, Kim K., Yan P., Whiteaker JR, Lin C., Kim JS, Zhang Y., Wang X., Ivey RG, Zhao L., Min H., Lee Y., Yu MH, Yang EG, Lee C., Wang P., Rodriguez H., Kim Y., Carr SA, et al. Nature methods, 2014/02/01, Volume 11, Issue 2, p.149-55, (2014) Read More / View Supplemental Materials
Abstract
2011
Mapping copy number variation by population-scale genome sequencing.Mills, RE, Walter K., Stewart C., Handsaker RE, Chen K., Alkan C., Abyzov A., Yoon SC, Ye K., Cheetham RK, Chinwalla A., Conrad DF, Fu Y., Grubert F., Hajirasouliha I., Hormozdiari F., Iakoucheva LM, Iqbal Z., Kang S., Kidd JM, et al. Nature, 2011/02/03, Volume 470, Issue 7332, p.59-65, (2011) Read More / View Supplemental Materials
Abstract
2010
Integrating common and rare genetic variation in diverse human populations.International HapMap 3, Consortium, Altshuler DM, Gibbs RA, Peltonen L., Altshuler DM, Gibbs RA, Peltonen L., Dermitzakis E., Schaffner SF, Yu F., Peltonen L., Dermitzakis E., Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P., Gabriel SB, Gwilliam R., Hunt S., et al. Nature, 2010/09/02, Volume 467, Issue 7311, p.52-8, (2010) Read More / View Supplemental Materials
Abstract
2008
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.Korn, JM, Kuruvilla FG, McCarroll SA, Wysoker A., Nemesh J., Cawley S., Hubbell E., Veitch J., Collins PJ, Darvishi K., Lee C., Nizzari MM, Gabriel SB, Purcell S., Daly M. J., and Altshuler D. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1253-60, (2008) Read More / View Supplemental Materials
Abstract
2005
A zebrafish bmyb mutation causes genome instability and increased cancer susceptibility.Shepard, JL, Amatruda JF, Stern HM, Subramanian A., Finkelstein D., Ziai J., Finley KR, Pfaff KL, Hersey C., Zhou Y., Barut B., Freedman M., Lee C., Spitsbergen J., Neuberg D., Weber G., Golub T. R., Glickman JN, Kutok JL, Aster J. C., et al. Proceedings of the National Academy of Sciences of the United States of America, 2005/09/13, Volume 102, Issue 37, p.13194-9, (2005) Read More / View Supplemental Materials
Abstract
Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma.Garraway, LA, Widlund HR, Rubin MA, Getz G., Berger AJ, Ramaswamy S., Beroukhim R., Milner DA, Granter SR, Du J., Lee C., Wagner SN, Li C., Golub T. R., Rimm DL, Meyerson ML, Fisher DE, and Sellers WR Nature, 2005/07/07, Volume 436, Issue 7047, p.117-22, (2005) Read More / View Supplemental Materials
Abstract
  • Showing 1-9 of 9 Results