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  • Showing 1-11 of 11 Results
2016
Analysis of protein-coding genetic variation in 60,706 humans.Lek, M., Karczewski KJ, Minikel EV, Samocha KE, Banks E., Fennell T., O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T., Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K., Zhao F., Zou J., Pierce-Hoffman E., Berghout J., Cooper DN, et al. Nature, 2016/08/17, Volume 536, Issue 7616, p.285-91, (2016) Read More / View Supplemental Materials
Abstract
A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.Clapham, KR, Chu AY, Wessel J., Natarajan P., Flannick J., Rivas MA, Sartori S., Mehran R., Baber U., Fuster V., Scott RA, Rader DJ, Boehnke M., McCarthy MI, Altshuler DM, Kathiresan S., and Peloso GM BMC endocrine disorders, 2016/01/28, Volume 16, Issue 1, p.7, (2016) Read More / View Supplemental Materials
Abstract
2015
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.Usher, CL, Handsaker RE, Esko T., Tuke MA, Weedon MN, Hastie AR, Cao H., Moon JE, Kashin S., Fuchsberger C., Metspalu A., Pato CN, Pato MT, McCarthy MI, Boehnke M., Altshuler DM, Frayling TM, Hirschhorn JN, and McCarroll SA Nature genetics, 2015/06/22, (2015) Read More / View Supplemental Materials
Abstract
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.Roberts, AM, Ware JS, Herman DS, Schafer S., Baksi J., Bick AG, Buchan RJ, Walsh R., John S., Wilkinson S., Mazzarotto F., Felkin LE, Gong S., L MacArthur JA, Cunningham F., Flannick J., Gabriel SB, Altshuler DM, Macdonald PS, Heinig M., et al. Science translational medicine, 2015/01/14, Volume 7, Issue 270, p.270ra6, (2015) Read More / View Supplemental Materials
Abstract
2014
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.Lim, ET, Liu YP, Chan Y., Tiinamaija T., Käräjämäki A., Madsen E., Go-T2D Consortium, Altshuler DM, Raychaudhuri S., Groop L., Flannick J., Hirschhorn JN, Katsanis N., and Daly M. J. American journal of human genetics, 2014/11/06, Volume 95, Issue 5, p.509-20, (2014) Read More / View Supplemental Materials
Abstract
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.Lim, ET, Würtz P., Havulinna AS, Palta P., Tukiainen T., Rehnström K., Esko T., Mägi R., Inouye M., Lappalainen T., Chan Y., Salem RM, Lek M., Flannick J., Sim X., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
Abstract
2012
Burden of rare sarcomere gene variants in the framingham and jackson heart study cohorts.Bick, AG, Flannick J., Ito K., Cheng S., Vasan RS, Parfenov MG, Herman DS, Depalma SR, Gupta N., Gabriel SB, Funke BH, Rehm HL, Benjamin EJ, Aragam J., Taylor HA Jr, Fox ER, Newton-Cheh C., Kathiresan S., O'Donnell CJ, Wilson JG, et al. American journal of human genetics, 2012/09/07, Volume 91, Issue 3, p.513-9, (2012) 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
2009
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.Smith, JG, Lowe JK, Kovvali S., Maller JB, Salit J., Daly M. J., Stoffel M., Altshuler DM, Friedman JM, Breslow JL, and Newton-Cheh C. Heart rhythm : the official journal of the Heart Rhythm Society, 2009/05/01, Volume 6, Issue 5, p.634-41, (2009) Read More / View Supplemental Materials
Abstract
2007
Copy-number variation and association studies of human disease.McCarroll, SA, and Altshuler DM Nature genetics, 2007/07/01, Volume 39, Issue 7 Suppl, p.S37-42, (2007) Read More / View Supplemental Materials
Abstract
  • Showing 1-11 of 11 Results