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  • Showing 1-16 of 16 Results
2014
Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes.Jaiswal, S., Fontanillas P., Flannick J., Manning A., Grauman PV, Mar BG, Lindsley RC, Mermel CH, Burtt N., Chavez A., Higgins JM, Moltchanov V., Kuo FC, Kluk MJ, Henderson B., Kinnunen L., Koistinen HA, Ladenvall C., Getz G., Correa A., et al. The New England journal of medicine, 2014/11/26, (2014) Read More / View Supplemental Materials
Abstract
A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity.Lim, ET, Liu YP, Chan Y., Tiinamaija T., Käräjämäki A., Madsen E., Go-T2D Consortium, Altshuler DM, Raychaudhuri S., Groop L., Flannick J., Hirschhorn JN, Katsanis N., and Daly M. J. American journal of human genetics, 2014/11/06, Volume 95, Issue 5, p.509-20, (2014) Read More / View Supplemental Materials
Abstract
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.Majithia, AR, Flannick J., Shahinian P., Guo M., Bray MA, Fontanillas P., Gabriel SB, GoT2D Consortium, NHGRI JHS/FHS Allelic Spectrum Project, SIGMA T2D Consortium, T2D-GENES Consortium, Rosen ED, Altshuler D., and GoT2D Consortium Proceedings of the National Academy of Sciences of the United States of America, 2014/08/25, (2014) Read More / View Supplemental Materials
Abstract
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.Lim, ET, Würtz P., Havulinna AS, Palta P., Tukiainen T., Rehnström K., Esko T., Mägi R., Inouye M., Lappalainen T., Chan Y., Salem RM, Lek M., Flannick J., Sim X., Manning A., Ladenvall C., Bumpstead S., Hämäläinen E., Aalto K., et al. PLoS genetics, 2014/07/01, Volume 10, Issue 7, p.e1004494, (2014) Read More / View Supplemental Materials
Abstract
Association of a low-frequency variant in HNF1A with type 2 diabetes in a Latino population.Consortium, SIGMA Type Diabetes 2, Estrada K., Aukrust I., Bjørkhaug L., Burtt NP, Mercader JM, García-Ortiz H., Huerta-Chagoya A., Moreno-Macías H., Walford G., Flannick J., Williams AL, Gómez-Vázquez MJ, Fernandez-Lopez JC, Martínez-Hernández A., Centeno-Cruz F., Mendoza-Caamal E., Revilla-Monsalve C., Islas-Andrade S., Córdova EJ, et al. JAMA : the journal of the American Medical Association, 2014/06/11, Volume 311, Issue 22, p.2305-14, (2014) Read More / View Supplemental Materials
Abstract
Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.Wang, SR, Agarwala V., Flannick J., Chiang CW, Altshuler D., GoT2D Consortium, and Hirschhorn JN American journal of human genetics, 2014/05/01, Volume 94, Issue 5, p.710-20, (2014) Read More / View Supplemental Materials
Abstract
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.Flannick, J., Thorleifsson G., Beer NL, Jacobs SB, Grarup N., Burtt NP, Mahajan A., Fuchsberger C., Atzmon G., Benediktsson R., Blangero J., Bowden DW, Brandslund I., Brosnan J., Burslem F., Chambers J., Cho YS, Christensen C., Douglas DA, Duggirala R., et al. Nature genetics, 2014/04/01, Volume 46, Issue 4, p.357-63, (2014) Read More / View Supplemental Materials
Abstract
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
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.The SIGMA Type 2 Diabetes, Consortium, team Writing, Williams AL, Jacobs SB, Moreno-Macías H., Huerta-Chagoya A., Churchhouse C., Márquez-Luna C., García-Ortíz H., José Gómez-Vázquez M., Burtt NP, Aguilar-Salinas CA, González-Villalpando C., Florez JC, Orozco L., Haiman CA, Tusié-Luna T., Altshuler D., team Analysis, Williams AL, et al. Nature, 2013/12/25, (2013) Read More / View Supplemental Materials
Abstract
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.Flannick, J., Beer NL, Bick AG, Agarwala V., Molnes J., Gupta N., Burtt NP, Florez JC, Meigs JB, Taylor H., Lyssenko V., Irgens H., Fox E., Burslem F., Johansson S., Brosnan MJ, Trimmer JK, Newton-Cheh C., Tuomi T., Molven A., et al. Nature genetics, 2013/11/01, Volume 45, Issue 11, p.1380-5, (2013) Read More / View Supplemental Materials
Abstract
Evaluating empirical bounds on complex disease genetic architecture.Agarwala, V., Flannick J., Sunyaev S., GoT2D Consortium, and Altshuler D. Nature genetics, 2013/10/20, (2013) Read More / View Supplemental Materials
Abstract
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
Abstract
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
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
Abstract
Efficiency and power as a function of sequence coverage, SNP array density, and imputation.Flannick, J., Korn JM, Fontanillas P., Grant GB, Banks E., DePristo MA, and Altshuler D. PLoS computational biology, 2012/07/01, Volume 8, Issue 7, p.e1002604, (2012) Read More / View Supplemental Materials
Abstract
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
Abstract
  • Showing 1-16 of 16 Results