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2014
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.Kiskinis, E., Sandoe J., Williams LA, Boulting GL, Moccia R., Wainger BJ, Han S., Peng T., Thams S., Mikkilineni S., Mellin C., Merkle FT, Davis-Dusenbery BN, Ziller M., Oakley D., Ichida J., Di Costanzo S., Atwater N., Maeder ML, Goodwin MJ, et al. Cell stem cell, 2014/06/05, Volume 14, Issue 6, p.781-95, (2014) Read More / View Supplemental Materials
Abstract
2013
Mapping the Human Reference Genome's Missing Sequence by Three-Way Admixture in Latino Genomes.Genovese, G., Handsaker RE, Li H., Kenny EE, and McCarroll SA American journal of human genetics, 2013/09/05, Volume 93, Issue 3, p.411-21, (2013) Read More / View Supplemental Materials
Abstract
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
Using population admixture to help complete maps of the human genome.Genovese, G., Handsaker RE, Li H., Altemose N., Lindgren AM, Chambert K., Pasaniuc B., Price AL, Reich D., Morton CC, Pollak MR, Wilson JG, and McCarroll SA Nature genetics, 2013/02/24, (2013) Read More / View Supplemental Materials
Abstract
2012
An integrated map of genetic variation from 1,092 human genomes.1000 Genomes Project, Consortium, Abecasis GR, Auton A., Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, and McVean GA Nature, 2012/11/01, Volume 491, Issue 7422, p.56-65, (2012) Read More / View Supplemental Materials
Abstract
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth.Fromer, M., Moran JL, Chambert K., Banks E., Bergen SE, Ruderfer DM, Handsaker RE, McCarroll SA, O'Donovan MC, Owen MJ, Kirov G., Sullivan PF, Hultman CM, Sklar P., and Purcell SM American journal of human genetics, 2012/10/05, Volume 91, Issue 4, p.597-607, (2012) Read More / View Supplemental Materials
Abstract
Structural haplotypes and recent evolution of the human 17q21.31 region.Boettger, LM, Handsaker RE, Zody MC, and McCarroll SA Nature genetics, 2012/07/01, (2012) Read More / View Supplemental Materials
Abstract
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.Bergen, SE, O'Dushlaine CT, Ripke S., Lee PH, Ruderfer DM, Akterin S., Moran JL, Chambert KD, Handsaker RE, Backlund L., Osby U., McCarroll S., Landen M., Scolnick EM, Magnusson PK, Lichtenstein P., Hultman CM, Purcell SM, Sklar P., and Sullivan PF Molecular psychiatry, 2012/06/12, (2012) 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
2009
Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans.Haas, BJ, Kamoun S., Zody MC, Jiang RH, Handsaker RE, Cano LM, Grabherr M., Kodira CD, Raffaele S., Torto-Alalibo T., Bozkurt TO, Ah-Fong AM, Alvarado L., Anderson VL, Armstrong MR, Avrova A., Baxter L., Beynon J., Boevink PC, Bollmann SR, et al. Nature, 2009/09/17, Volume 461, Issue 7262, p.393-8, (2009) Read More / View Supplemental Materials
Abstract
  • Showing 1-10 of 10 Results