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  • Showing 1-13 of 13 Results
2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Kirby, A., Gnirke A., Jaffe DB, Barešová V., Pochet N., Blumenstiel B., Ye C., Aird D., Stevens C., Robinson JT, Cabili MN, Gat-Viks I., Kelliher E., Daza R., DeFelice M., Hůlková H., Sovová J., Vylet'al P., Antignac C., Guttman M., et al. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013) Read More / View Supplemental Materials
Abstract
2012
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.Voight, BF, Kang HM, Ding J., Palmer CD, Sidore C., Chines PS, Burtt NP, Fuchsberger C., Li Y., Erdmann J., Frayling TM, Heid IM, Jackson AU, Johnson T., Kilpeläinen TO, Lindgren CM, Morris AP, Prokopenko I., Randall JC, Saxena R., et al. PLoS genetics, 2012/08/01, Volume 8, Issue 8, p.e1002793, (2012) Read More / View Supplemental Materials
Abstract
Sequence analysis of mutations and translocations across breast cancer subtypes.Banerji, S., Cibulskis K., Rangel-Escareno C., Brown KK, Carter SL, Frederick AM, Lawrence MS, Sivachenko AY, Sougnez C., Zou L., Cortes ML, Fernandez-Lopez JC, Peng S., Ardlie KG, Auclair D., Bautista-Piña V., Duke F., Francis J., Jung J., Maffuz-Aziz A., et al. Nature, 2012/06/20, Volume 486, Issue 7403, p.405-9, (2012) Read More / View Supplemental Materials
Abstract
Melanoma genome sequencing reveals frequent PREX2 mutations.Berger, MF, Hodis E., Heffernan TP, Deribe YL, Lawrence MS, Protopopov A., Ivanova E., Watson IR, Nickerson E., Ghosh P., Zhang H., Zeid R., Ren X., Cibulskis K., Sivachenko AY, Wagle N., Sucker A., Sougnez C., Onofrio R., Ambrogio L., et al. Nature, 2012/05/09, Volume 485, Issue 7399, p.502-6, (2012) Read More / View Supplemental Materials
Abstract
2011
Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.Bass, AJ, Lawrence MS, Brace LE, Ramos AH, Drier Y., Cibulskis K., Sougnez C., Voet D., Saksena G., Sivachenko A., Jing R., Parkin M., Pugh T., Verhaak RG, Stransky N., Boutin AT, Barretina J., Solit DB, Vakiani E., Shao W., et al. Nature genetics, 2011/09/04, Volume 43, Issue 10, p.964-8, (2011) Read More / View Supplemental Materials
Abstract
The mutational landscape of head and neck squamous cell carcinoma.Stransky, N., Egloff AM, Tward AD, Kostic AD, Cibulskis K., Sivachenko A., Kryukov GV, Lawrence MS, Sougnez C., McKenna A., Shefler E., Ramos AH, Stojanov P., Carter SL, Voet D., Cortés ML, Auclair D., Berger MF, Saksena G., Guiducci C., et al. Science (New York, N.Y.), 2011/08/26, Volume 333, Issue 6046, p.1157-60, (2011) Read More / View Supplemental Materials
Abstract
The genomic complexity of primary human prostate cancer.Berger, MF, Lawrence MS, Demichelis F., Drier Y., Cibulskis K., Sivachenko AY, Sboner A., Esgueva R., Pflueger D., Sougnez C., Onofrio R., Carter SL, Park K., Habegger L., Ambrogio L., Fennell T., Parkin M., Saksena G., Voet D., Ramos AH, et al. Nature, 2011/02/10, Volume 470, Issue 7333, p.214-20, (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 detection and population-genetic analysis of SNPs and copy number variation.McCarroll, SA, Kuruvilla FG, Korn JM, Cawley S., Nemesh J., Wysoker A., Shapero MH, de Bakker PI, Maller JB, Kirby A., Elliott AL, Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins PJ, Handsaker R., Lincoln S., Nizzari M., et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1166-74, (2008) Read More / View Supplemental Materials
Abstract
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.Graham, RR, Cotsapas C., Davies L., Hackett R., Lessard CJ, Leon JM, Burtt NP, Guiducci C., Parkin M., Gates C., Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, Graham DC, Wong AK, Vyse TJ, Daly M. J., Altshuler D., et al. Nature genetics, 2008/09/01, Volume 40, Issue 9, p.1059-61, (2008) Read More / View Supplemental Materials
Abstract
2007
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.Plenge, RM, Cotsapas C., Davies L., Price AL, de Bakker PI, Maller J., Pe'er I., Burtt NP, Blumenstiel B., DeFelice M., Parkin M., Barry R., Winslow W., Healy C., Graham RR, Neale BM, Izmailova E., Roubenoff R., Parker AN, Glass R., et al. Nature genetics, 2007/12/01, Volume 39, Issue 12, p.1477-82, (2007) Read More / View Supplemental Materials
Abstract
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
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.and of Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes BioMedical Rese, Saxena R., Voight BF, Lyssenko V., Burtt NP, de Bakker PI, Chen H., Roix JJ, Kathiresan S., Hirschhorn JN, Daly M. J., Hughes TE, Groop L., Altshuler D., Almgren P., Florez JC, Meyer J., Ardlie K., Bengtsson Boström K., Isomaa B., et al. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007) Read More / View Supplemental Materials
Abstract
  • Showing 1-13 of 13 Results