Recent Broad Publications

Synthesis of Stereochemically and Skeletally Diverse Fused Ring Systems from Functionalized C-Glycosides.
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RhoGTPases - NODes for effector-triggered immunity in animals.
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Comparative analysis of RNA sequencing methods for degraded or low-input samples.
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Small-Molecule Inhibitors of Cytokine-Mediated STAT1 Signal Transduction in β-Cells with Improved Aqueous Solubility.
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Transcriptional and Epigenetic Dynamics during Specification of Human Embryonic Stem Cells.
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Scientific Publications

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Filters: Author is Altshuler, DM [Clear All Filters]

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

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

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

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

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