Scientific Publications

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

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Abstract

Genome sequence, comparative analysis, and population genetics of the domestic horse.Wade, CM, Giulotto E., Sigurdsson S., Zoli M., Gnerre S., Imsland F., Lear TL, Adelson DL, Bailey E., Bellone RR, Blöcker H., Distl O., Edgar RC, Garber M., Leeb T., Mauceli E., MacLeod JN, Penedo MC, Raison JM, Sharpe T., et al. Science (New York, N.Y.), 2009/11/06, Volume 326, Issue 5954, p.865-7, (2009) Read More / View Supplemental Materials

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Abstract

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.Graham, RR, Kyogoku C., Sigurdsson S., Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T., Ortmann WA, Hom G., Bauer JW, Gillett C., Burtt N., Cunninghame Graham DS, Onofrio R., Petri M., Gunnarsson I., Svenungsson E., Rönnblom L., Nordmark G., et al. Proceedings of the National Academy of Sciences of the United States of America, 2007/04/17, Volume 104, Issue 16, p.6758-63, (2007) Read More / View Supplemental Materials

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Abstract