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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
Abstract
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia.Landau, DA, Carter SL, Stojanov P., McKenna A., Stevenson K., Lawrence MS, Sougnez C., Stewart C., Sivachenko A., Wang L., Wan Y., Zhang W., Shukla SA, Vartanov A., Fernandes SM, Saksena G., Cibulskis K., Tesar B., Gabriel S., Hacohen N., et al. Cell, 2013/02/14, Volume 152, Issue 4, p.714-26, (2013) Read More / View Supplemental Materials
Abstract
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples.Cibulskis, K., Lawrence MS, Carter SL, Sivachenko A., Jaffe D., Sougnez C., Gabriel S., Meyerson M., Lander E. S., and Getz G. Nature biotechnology, 2013/02/10, (2013) Read More / View Supplemental Materials
Abstract
Prognostic Gene-Expression Signature for Patients with Hepatitis C-Related Early-Stage Cirrhosis.Hoshida, Y., Villanueva A., Sangiovanni A., Sole M., Hur C., Andersson KL, Chung RT, Gould J., Kojima K., Gupta S., Taylor B., Crenshaw A., Gabriel S., Minguez B., Iavarone M., Friedman SL, Colombo M., Llovet JM, and Golub T. R. Gastroenterology, 2013/01/17, (2013) Read More / View Supplemental Materials
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2012
Comprehensive genomic characterization of squamous cell lung cancers.The Cancer Genome Atlas Research, Network, institution.)(Participants are arranged by area of contribution and then by, Genome sequencing centres: Broad Institute, Hammerman PS, Lawrence MS, Voet D., Jing R., Cibulskis K., Sivachenko A., Stojanov P., McKenna A., Lander E. S., Gabriel S., Getz G., Sougnez C., Imielinski M., Helman E., Hernandez B., Pho NH, Meyerson M., et al. Nature, 2012/09/09, (2012) Read More / View Supplemental Materials
Abstract
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.Voight, BF, Peloso GM, Orho-Melander M., Frikke-Schmidt R., Barbalic M., Jensen MK, Hindy G., Hólm H., Ding EL, Johnson T., Schunkert H., Samani NJ, Clarke R., Hopewell JC, Thompson JF, Li M., Thorleifsson G., Newton-Cheh C., Musunuru K., Pirruccello JP, et al. Lancet, 2012/05/17, (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
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries.Fisher, S., Barry A., Abreu J., Minie B., Nolan J., Delorey TM, Young G., Fennell TJ, Allen A., Ambrogio L., Berlin AM, Blumenstiel B., Cibulskis K., Friedrich D., Johnson R., Juhn F., Reilly B., Shammas R., Stalker J., Sykes SM, et al. Genome biology, 2012/01/09, Volume 12, Issue 1, p.R1, (2012) Read More / View Supplemental Materials
Abstract
2011
SF3B1 and other novel cancer genes in chronic lymphocytic leukemia.Wang, L., Lawrence MS, Wan Y., Stojanov P., Sougnez C., Stevenson K., Werner L., Sivachenko A., Deluca DS, Zhang L., Zhang W., Vartanov AR, Fernandes SM, Goldstein NR, Folco EG, Cibulskis K., Tesar B., Sievers QL, Shefler E., Gabriel S., et al. The New England journal of medicine, 2011/12/29, Volume 365, Issue 26, p.2497-506, (2011) Read More / View Supplemental Materials
Abstract
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
Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.Bass, AJ, Lawrence MS, Brace LE, Ramos AH, Drier Y., Cibulskis K., Sougnez C., Voet D., Saksena G., Sivachenko A., Jing R., Parkin M., Pugh T., Verhaak RG, Stransky N., Boutin AT, Barretina J., Solit DB, Vakiani E., Shao W., et al. Nature genetics, 2011/09/04, Volume 43, Issue 10, p.964-8, (2011) Read More / View Supplemental Materials
Abstract
Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.Shea, J., Agarwala V., Philippakis AA, Maguire J., Banks E., DePristo M., Thomson B., Guiducci C., Onofrio RC, Kathiresan S., Gabriel S., Burtt NP, Daly M. J., Groop L., Altshuler D., and Myocardial Infarction Genetics Consortium Nature genetics, 2011/07/24, Volume 43, Issue 8, p.801-5, (2011) Read More / View Supplemental Materials
Abstract
2010
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.McKenna, A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., Garimella K., Altshuler D., Gabriel S., Daly M., and DePristo MA Genome research, 2010/09/01, Volume 20, Issue 9, p.1297-303, (2010) Read More / View Supplemental Materials
Abstract
Targeted exon sequencing by in-solution hybrid selection.Blumenstiel, B., Cibulskis K., Fisher S., DeFelice M., Barry A., Fennell T., Abreu J., Minie B., Costello M., Young G., Maquire J., Kernytsky A., Melnikov A., Rogov P., Gnirke A., and Gabriel S. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2010/07/01, Volume Chapter 18, p.Unit 18.4, (2010) Read More / View Supplemental Materials
Abstract
The landscape of somatic copy-number alteration across human cancers.Beroukhim, R., Mermel CH, Porter D., Wei G., Raychaudhuri S., Donovan J., Barretina J., Boehm JS, Dobson J., Urashima M., Mc Henry KT, Pinchback RM, Ligon AH, Cho YJ, Haery L., Greulich H., Reich M., Winckler W., Lawrence MS, Weir BA, et al. Nature, 2010/02/18, Volume 463, Issue 7283, p.899-905, (2010) Read More / View Supplemental Materials
Abstract
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1.Verhaak, RG, Hoadley KA, Purdom E., Wang V., Qi Y., Wilkerson MD, Miller CR, Ding L., Golub T., Mesirov J. P., Alexe G., Lawrence M., O'Kelly M., Tamayo P., Weir BA, Gabriel S., Winckler W., Gupta S., Jakkula L., Feiler HS, et al. Cancer cell, 2010/01/19, Volume 17, Issue 1, p.98-110, (2010) Read More / View Supplemental Materials
Abstract
2009
Integrative transcriptome analysis reveals common molecular subclasses of human hepatocellular carcinoma.Hoshida, Y., Nijman SM, Kobayashi M., Chan JA, Brunet JP, Chiang DY, Villanueva A., Newell P., Ikeda K., Hashimoto M., Watanabe G., Gabriel S., Friedman SL, Kumada H., Llovet JM, and Golub T. R. Cancer research, 2009/09/15, Volume 69, Issue 18, p.7385-92, (2009) Read More / View Supplemental Materials
Abstract
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing.Gnirke, A., Melnikov A., Maguire J., Rogov P., LeProust EM, Brockman W., Fennell T., Giannoukos G., Fisher S., Russ C., Gabriel S., Jaffe DB, Lander E. S., and Nusbaum C. Nature biotechnology, 2009/02/01, Volume 27, Issue 2, p.182-9, (2009) Read More / View Supplemental Materials
Abstract
SNP genotyping using the Sequenom MassARRAY iPLEX platform.Gabriel, S., Ziaugra L., and Tabbaa D. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2009/01/01, Volume Chapter 2, p.Unit 2.12, (2009) Read More / View Supplemental Materials
Abstract
2008
Gene expression in fixed tissues and outcome in hepatocellular carcinoma.Hoshida, Y., Villanueva A., Kobayashi M., Peix J., Chiang DY, Camargo A., Gupta S., Moore J., Wrobel MJ, Lerner J., Reich M., Chan JA, Glickman JN, Ikeda K., Hashimoto M., Watanabe G., Daidone MG, Roayaie S., Schwartz M., Thung S., et al. The New England journal of medicine, 2008/11/06, Volume 359, Issue 19, p.1995-2004, (2008) Read More / View Supplemental Materials
Abstract
Drug-sensitive FGFR2 mutations in endometrial carcinoma.Dutt, A., Salvesen HB, Chen TH, Ramos AH, Onofrio RC, Hatton C., Nicoletti R., Winckler W., Grewal R., Hanna M., Wyhs N., Ziaugra L., Richter DJ, Trovik J., Engelsen IB, Stefansson IM, Fennell T., Cibulskis K., Zody MC, Akslen LA, et al. Proceedings of the National Academy of Sciences of the United States of America, 2008/06/24, Volume 105, Issue 25, p.8713-7, (2008) Read More / View Supplemental Materials
Abstract
2007
New models of collaboration in genome-wide association studies: the Genetic Association Information Network.GAIN Collaborative Research, Group, Manolio TA, Rodriguez LL, Brooks L., Abecasis G., Collaborative Association Study of Psoriasis, Ballinger D., Daly M., Donnelly P., Faraone SV, International Multi-Center ADHD Genetics Project, Frazer K., Gabriel S., Gejman P., Molecular Genetics of Schizophrenia Collaboration, Guttmacher A., Harris EL, Insel T., Kelsoe JR, Bipolar Genome Study, et al. Nature genetics, 2007/09/01, Volume 39, Issue 9, p.1045-51, (2007) Read More / View Supplemental Materials
Abstract
Population genetic tools: application to cancer.Gabriel, S. Seminars in oncology, 2007/04/01, Volume 34, Issue 2 Suppl 1, p.S21-4, (2007) Read More / View Supplemental Materials
Abstract
High-throughput oncogene mutation profiling in human cancer.Thomas, RK, Baker AC, Debiasi RM, Winckler W., LaFramboise T., Lin WM, Wang M., Feng W., Zander T., MacConaill L., Lee JC, Nicoletti R., Hatton C., Goyette M., Girard L., Majmudar K., Ziaugra L., Wong KK, Gabriel S., Beroukhim R., et al. Nature genetics, 2007/03/01, Volume 39, Issue 3, p.347-51, (2007) Read More / View Supplemental Materials
Abstract
2006
Epidermal growth factor receptor activation in glioblastoma through novel missense mutations in the extracellular domain.Lee, JC, Vivanco I., Beroukhim R., Huang JH, Feng WL, Debiasi RM, Yoshimoto K., King JC, Nghiemphu P., Yuza Y., Xu Q., Greulich H., Thomas RK, Paez JG, Peck TC, Linhart DJ, Glatt KA, Getz G., Onofrio R., Ziaugra L., et al. PLoS medicine, 2006/12/01, Volume 3, Issue 12, p.e485, (2006) Read More / View Supplemental Materials
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Variation in the human genome and the inherited basis of common disease.Gabriel, S. Seminars in oncology, 2006/12/01, Volume 33, Issue 6 Suppl 11, p.S46-9, (2006) Read More / View Supplemental Materials
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2005
Calibrating a coalescent simulation of human genome sequence variation.Schaffner, SF, Foo C., Gabriel S., Reich D., Daly M. J., and Altshuler D. Genome research, 2005/11/01, Volume 15, Issue 11, p.1576-83, (2005) Read More / View Supplemental Materials
Abstract
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.Levine, RL, Wadleigh M., Cools J., Ebert BL, Wernig G., Huntly BJ, Boggon TJ, Wlodarska I., Clark JJ, Moore S., Adelsperger J., Koo S., Lee JC, Gabriel S., Mercher T., D'Andrea A., Fröhling S., Döhner K., Marynen P., Vandenberghe P., et al. Cancer cell, 2005/04/01, Volume 7, Issue 4, p.387-97, (2005) Read More / View Supplemental Materials
Abstract
2004
Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping.Sawcer, SJ, Maranian M., Singlehurst S., Yeo T., Compston A., Daly M. J., De Jager PL, Gabriel S., Hafler DA, Ivinson AJ, Lander E. S., Rioux JD, Walsh E., Gregory SG, Schmidt S., Pericak-Vance MA, Barcellos L., Hauser SL, Oksenberg JR, Kenealy SJ, et al. Human molecular genetics, 2004/09/01, Volume 13, Issue 17, p.1943-9, (2004) Read More / View Supplemental Materials
Abstract
SNP genotyping using Sequenom MassARRAY 7K platform.Gabriel, S., and Ziaugra L. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2004/09/01, Volume Chapter 2, p.Unit 2.12, (2004) Read More / View Supplemental Materials
Abstract
Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids.Tantisira, KG, Lake S., Silverman ES, Palmer LJ, Lazarus R., Silverman EK, Liggett SB, Gelfand EW, Rosenwasser LJ, Richter B., Israel E., Wechsler M., Gabriel S., Altshuler D., Lander E., Drazen J., and Weiss ST Human molecular genetics, 2004/07/01, Volume 13, Issue 13, p.1353-9, (2004) Read More / View Supplemental Materials
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EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.Paez, JG, Jänne PA, Lee JC, Tracy S., Greulich H., Gabriel S., Herman P., Kaye FJ, Lindeman N., Boggon TJ, Naoki K., Sasaki H., Fujii Y., Eck MJ, Sellers WR, Johnson B. E., and Meyerson M. Science (New York, N.Y.), 2004/06/04, Volume 304, Issue 5676, p.1497-500, (2004) Read More / View Supplemental Materials
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  • Showing 1-32 of 32 Results