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  • Showing 1-14 of 14 Results
2014
Loss-of-function mutations in APOC3, triglycerides, and coronary disease.and TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung Blood Institute, Crosby J., Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y., Tang ZZ, Zhang H., Hindy G., Masca N., Stirrups K., Kanoni S., Do R., Jun G., Hu Y., Kang HM, Xue C., Goel A., et al. The New England journal of medicine, 2014/07/03, Volume 371, Issue 1, p.22-31, (2014) Read More / View Supplemental Materials
Abstract
Mutations in CSPP1 Lead to Classical Joubert Syndrome.Akizu, N., Silhavy JL, Rosti RO, Scott E., Fenstermaker AG, Schroth J., Zaki MS, Sanchez H., Gupta N., Kabra M., Kara M., Ben-Omran T., Rosti B., Guemez-Gamboa A., Spencer E., Pan R., Cai N., Abdellateef M., Gabriel S., Halbritter J., et al. American journal of human genetics, 2014/01/02, Volume 94, Issue 1, p.80-6, (2014) Read More / View Supplemental Materials
Abstract
Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene.Okada, Y., Diogo D., Greenberg JD, Mouassess F., Achkar WA, Fulton RS, Denny JC, Gupta N., Mirel D., Gabriel S., Li G., Kremer JM, Pappas DA, Carroll RJ, Eyler AE, Trynka G., Stahl EA, Cui J., Saxena R., Coenen MJ, et al. PloS one, 2014/01/01, Volume 9, Issue 2, p.e87645, (2014) Read More / View Supplemental Materials
Abstract
2013
Genetics of rheumatoid arthritis contributes to biology and drug discovery.Okada, Y., Wu D., Trynka G., Raj T., Terao C., Ikari K., Kochi Y., Ohmura K., Suzuki A., Yoshida S., Graham RR, Manoharan A., Ortmann W., Bhangale T., Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA, 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
Subgroup-Specific Prognostic Implications of TP53 Mutation in Medulloblastoma.Zhukova, N., Ramaswamy V., Remke M., Pfaff E., Shih DJ, Martin DC, Castelo-Branco P., Baskin B., Ray PN, Bouffet E., von Bueren AO, Jones DT, Northcott PA, Kool M., Sturm D., Pugh TJ, Pomeroy SL, Cho YJ, Pietsch T., Gessi M., et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology, 2013/07/08, (2013) Read More / View Supplemental Materials
Abstract
A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia.Cefalù, AB, Pirruccello JP, Noto D., Gabriel S., Valenti V., Gupta N., Spina R., Tarugi P., Kathiresan S., and Averna MR Arteriosclerosis, thrombosis, and vascular biology, 2013/05/30, (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
Exome sequencing and the genetic basis of complex traits.Kiezun, A., Garimella K., Do R., Stitziel NO, Neale BM, McLaren PJ, Gupta N., Sklar P., Sullivan PF, Moran JL, Hultman CM, Lichtenstein P., Magnusson P., Lehner T., Shugart YY, Price AL, de Bakker PI, Purcell SM, and Sunyaev SR Nature genetics, 2012/05/29, Volume 44, Issue 6, p.623-30, (2012) Read More / View Supplemental Materials
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.Pasaniuc, B., Rohland N., McLaren PJ, Garimella K., Zaitlen N., Li H., Gupta N., Neale BM, Daly M. J., Sklar P., Sullivan PF, Bergen S., Moran JL, Hultman CM, Lichtenstein P., Magnusson P., Purcell SM, Haas DW, Liang L., Sunyaev S., et al. Nature genetics, 2012/05/20, Volume 44, Issue 6, p.631-5, (2012) Read More / View Supplemental Materials
Abstract
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12.Kurreeman, FA, Stahl EA, Okada Y., Liao K., Diogo D., Raychaudhuri S., Freudenberg J., Kochi Y., Patsopoulos NA, Gupta N., investigators CLEAR, Sandor C., Bang SY, Lee HS, Padyukov L., Suzuki A., Siminovitch K., Worthington J., Gregersen PK, Hughes LB, et al. American journal of human genetics, 2012/03/09, Volume 90, Issue 3, p.524-532, (2012) Read More / View Supplemental Materials
Abstract
2011
Corridors of migrating neurons in the human brain and their decline during infancy.Sanai, N., Nguyen T., Ihrie RA, Mirzadeh Z., Tsai HH, Wong M., Gupta N., Berger MS, Huang E., Garcia-Verdugo JM, Rowitch DH, and Alvarez-Buylla A. Nature, 2011/09/28, Volume 478, Issue 7369, p.382-6, (2011) Read More / View Supplemental Materials
Abstract
Next-generation sequencing for HLA typing of class I loci.Erlich, RL, Jia X., Anderson S., Banks E., Gao X., Carrington M., Gupta N., DePristo MA, Henn MR, Lennon NJ, and de Bakker PI BMC genomics, 2011/01/18, Volume 12, p.42, (2011) Read More / View Supplemental Materials
Abstract
  • Showing 1-14 of 14 Results