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  • Showing 1-13 of 13 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 protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.Rivas, MA, Graham D., Sulem P., Stevens C., Desch AN, Goyette P., Gudbjartsson D., Jonsdottir I., Thorsteinsdottir U., Degenhardt F., Mucha S., Kurki MI, Li D., D'Amato M., Annese V., Vermeire S., Weersma RK, Halfvarson J., Paavola-Sakki P., Lappalainen M., et al. Nature communications, 2016/08/09, Volume 7, p.12342, (2016) Read More / View Supplemental Materials
Abstract
The genetic architecture of type 2 diabetes.Fuchsberger, C., Flannick J., Teslovich TM, Mahajan A., Agarwala V., Gaulton KJ, Ma C., Fontanillas P., Moutsianas L., McCarthy DJ, Rivas MA, Perry JR, Sim X., Blackwell TW, Robertson NR, Rayner NW, Cingolani P., Locke AE, Tajes JF, Highland HM, et al. Nature, 2016/07/11, (2016) Read More / View Supplemental Materials
Abstract
Discovery of rare variants for complex phenotypes.Kosmicki, JA, Churchhouse CL, Rivas MA, and Neale BM Human genetics, 2016/06/01, Volume 135, Issue 6, p.625-34, (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
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.Visschedijk, MC, Alberts R., Mucha S., Deelen P., de Jong DJ, Pierik M., Spekhorst LM, Imhann F., van der Meulen-de Jong AE, van der Woude CJ, van Bodegraven AA, Oldenburg B., Löwenberg M., Dijkstra G., Ellinghaus D., Schreiber S., Wijmenga C., Initiative on Crohn and Colitis, Parelsnoer Institute, Rivas MA, et al. PloS one, 2016/01/01, Volume 11, Issue 8, p.e0159609, (2016) Read More / View Supplemental Materials
Abstract
2015
Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.Rivas, MA, Pirinen M., Conrad DF, Lek M., Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, Deluca DS, Fromer M., Ferreira PG, Smith KS, Zhang R., Zhao F., Banks E., Poplin R., Ruderfer DM, Purcell SM, Tukiainen T., Minikel EV, et al. Science (New York, N.Y.), 2015/05/08, Volume 348, Issue 6235, p.666-9, (2015) Read More / View Supplemental Materials
Abstract
The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.Moutsianas, L., Agarwala V., Fuchsberger C., Flannick J., Rivas MA, Gaulton KJ, Albers PK, GoT2D Consortium, McVean G., Boehnke M., Altshuler D., and McCarthy MI PLoS genetics, 2015/04/01, Volume 11, Issue 4, p.e1005165, (2015) Read More / View Supplemental Materials
Abstract
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus.Mahajan, A., Sim X., Ng HJ, Manning A., Rivas MA, Highland HM, Locke AE, Grarup N., Im HK, Cingolani P., Flannick J., Fontanillas P., Fuchsberger C., Gaulton KJ, Teslovich TM, Rayner NW, Robertson NR, Beer NL, Rundle JK, Bork-Jensen J., et al. PLoS genetics, 2015/01/01, Volume 11, Issue 1, p.e1004876, (2015) Read More / View Supplemental Materials
Abstract
2014
Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol.Lange, LA, Hu Y., Zhang H., Xue C., Schmidt EM, Tang ZZ, Bizon C., Lange EM, Smith JD, Turner EH, Jun G., Kang HM, Peloso G., Auer P., Li KP, Flannick J., Zhang J., Fuchsberger C., Gaulton K., Lindgren C., et al. American journal of human genetics, 2014/02/06, Volume 94, Issue 2, p.233-45, (2014) Read More / View Supplemental Materials
Abstract
2013
Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis.Diogo, D., Kurreeman F., Stahl EA, Liao KP, Gupta N., Greenberg JD, Rivas MA, Hickey B., Flannick J., Thomson B., Guiducci C., Ripke S., Adzhubey I., Barton A., Kremer JM, Alfredsson L., Consortium of Rheumatology Researchers of North America, Rheumatoid Arthritis Consortium International, Sunyaev S., Martin J., et al. American journal of human genetics, 2013/01/10, Volume 92, Issue 1, p.15-27, (2013) Read More / View Supplemental Materials
Abstract
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
Abstract
A framework for variation discovery and genotyping using next-generation DNA sequencing data.DePristo, MA, Banks E., Poplin R., Garimella KV, Maguire JR, Hartl C., Philippakis AA, del Angel G., Rivas MA, Hanna M., McKenna A., Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K., Gabriel SB, Altshuler D., and Daly M. J. Nature genetics, 2011/05/01, Volume 43, Issue 5, p.491-8, (2011) Read More / View Supplemental Materials
Abstract
  • Showing 1-13 of 13 Results