Recent Broad Publications

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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Entering the age of whole-exome sequencing in rheumatic diseases: Novel insights into disease pathogenicity.
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Young and old genetically heterogeneous HET3 mice on a rapamycin diet are glucose intolerant but insulin sensitive.
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miR-155 in Acute Myeloid Leukemia: Not Merely a Prognostic Marker?
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Scientific Publications

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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

2011

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Rivas, MA, Beaudoin M., Gardet A., Stevens C., Sharma Y., Zhang CK, Boucher G., Ripke S., Ellinghaus D., Burtt N., Fennell T., Kirby A., Latiano A., Goyette P., Green T., Halfvarson J., Haritunians T., Korn JM, Kuruvilla F., Lagacé C., et al. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011) Read More / View Supplemental Materials

2010

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.Voight, BF, Scott LJ, Steinthorsdottir V., Morris AP, Dina C., Welch RP, Zeggini E., Huth C., Aulchenko YS, Thorleifsson G., McCulloch LJ, Ferreira T., Grallert H., Amin N., Wu G., Willer CJ, Raychaudhuri S., McCarroll SA, Langenberg C., Hofmann OM, et al. Nature genetics, 2010/07/01, Volume 42, Issue 7, p.579-89, (2010) Read More / View Supplemental Materials

2007

A second major histocompatibility complex susceptibility locus for multiple sclerosis.Yeo, TW, De Jager PL, Gregory SG, Barcellos LF, Walton A., Goris A., Fenoglio C., Ban M., Taylor CJ, Goodman RS, Walsh E., Wolfish CS, Horton R., Traherne J., Beck S., Trowsdale J., Caillier SJ, Ivinson AJ, Green T., Pobywajlo S., et al. Annals of neurology, 2007/03/01, Volume 61, Issue 3, p.228-36, (2007) Read More / View Supplemental Materials

2006

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.de Bakker, PI, McVean G., Sabeti PC, Miretti MM, Green T., Marchini J., Ke X., Monsuur AJ, Whittaker P., Delgado M., Morrison J., Richardson A., Walsh EC, Gao X., Galver L., Hart J., Hafler DA, Pericak-Vance M., Todd JA, Daly M. J., et al. Nature genetics, 2006/10/01, Volume 38, Issue 10, p.1166-72, (2006) Read More / View Supplemental Materials