Recent Broad Publications

Small-Molecule Inhibitors of Cytokine-Mediated STAT1 Signal Transduction in β-Cells with Improved Aqueous Solubility.
Read More / View Supplemental Materials
Transcriptional and Epigenetic Dynamics during Specification of Human Embryonic Stem Cells.
Read More / View Supplemental Materials
Entering the age of whole-exome sequencing in rheumatic diseases: Novel insights into disease pathogenicity.
Read More / View Supplemental Materials
Young and old genetically heterogeneous HET3 mice on a rapamycin diet are glucose intolerant but insulin sensitive.
Read More / View Supplemental Materials
miR-155 in Acute Myeloid Leukemia: Not Merely a Prognostic Marker?
Read More / View Supplemental Materials

Scientific Publications

List
Filter

Found 4 results

Filters: Author is DePristo, M [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

Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials

2011

ContEst: estimating cross-contamination of human samples in next-generation sequencing data.Cibulskis, K., McKenna A., Fennell T., Banks E., DePristo M., and Getz G. Bioinformatics (Oxford, England), 2011/09/15, Volume 27, Issue 18, p.2601-2, (2011) Read More / View Supplemental Materials

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.Shea, J., Agarwala V., Philippakis AA, Maguire J., Banks E., DePristo M., Thomson B., Guiducci C., Onofrio RC, Kathiresan S., Gabriel S., Burtt NP, Daly M. J., Groop L., Altshuler D., and Myocardial Infarction Genetics Consortium Nature genetics, 2011/07/24, Volume 43, Issue 8, p.801-5, (2011) Read More / View Supplemental Materials