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2014
A framework for the interpretation of de novo mutation in human disease.Samocha, KE, Robinson EB, Sanders SJ, Stevens C., Sabo A., McGrath LM, Kosmicki JA, Rehnström K., Mallick S., Kirby A., Wall DP, Macarthur DG, Gabriel SB, DePristo M., Purcell SM, Palotie A., Boerwinkle E., Buxbaum JD, Cook EH Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
Activating mTOR Mutations in a Patient with an Extraordinary Response on a Phase I Trial of Everolimus and Pazopanib.Wagle, N., Grabiner BC, Van Allen EM, Hodis E., Jacobus S., Supko JG, Stewart M., Choueiri TK, Gandhi L., Cleary JM, Elfiky AA, Taplin ME, Stack EC, Signoretti S., Loda M., Shapiro GI, Sabatini DM, Lander E. S., Gabriel SB, Kantoff PW, et al. Cancer discovery, 2014/03/27, (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
Discovery and saturation analysis of cancer genes across 21 tumour types.Lawrence, MS, Stojanov P., Mermel CH, Robinson JT, Garraway LA, Golub T. R., Meyerson M., Gabriel SB, Lander E. S., and Getz G. Nature, 2014/01/05, (2014) Read More / View Supplemental Materials
Abstract
2013
Landscape of genomic alterations in cervical carcinomas.Ojesina, AI, Lichtenstein L., Freeman SS, Pedamallu CS, Imaz-Rosshandler I., Pugh TJ, Cherniack AD, Ambrogio L., Cibulskis K., Bertelsen B., Romero-Cordoba S., Treviño V., Vazquez-Santillan K., Guadarrama AS, Wright AA, Rosenberg MW, Duke F., Kaplan B., Wang R., Nickerson E., et al. Nature, 2013/12/25, (2013) Read More / View Supplemental Materials
Abstract
The Cancer Genome Atlas Pan-Cancer analysis project.Cancer Genome Atlas Research, Network, Genome Characterization Center, Chang K., Creighton CJ, Davis C., Donehower L., Drummond J., Wheeler D., Ally A., Balasundaram M., Birol I., Butterfield YS, Chu A., Chuah E., Chun HJ, Dhalla N., Guin R., Hirst M., Hirst C., Holt RA, et al. Nature genetics, 2013/09/26, Volume 45, Issue 10, p.1113-20, (2013) Read More / View Supplemental Materials
Pan-cancer patterns of somatic copy number alteration.Zack, TI, Schumacher SE, Carter SL, Cherniack AD, Saksena G., Tabak B., Lawrence MS, Zhang CZ, Wala J., Mermel CH, Sougnez C., Gabriel SB, Hernandez B., Shen H., Laird PW, Getz G., Meyerson M., and Beroukhim R. Nature genetics, 2013/09/26, Volume 45, Issue 10, p.1134-1140, (2013) Read More / View Supplemental Materials
Abstract
Mutational heterogeneity in cancer and the search for new cancer-associated genes.Lawrence, MS, Stojanov P., Polak P., Kryukov GV, Cibulskis K., Sivachenko A., Carter SL, Stewart C., Mermel CH, Roberts SA, Kiezun A., Hammerman PS, McKenna A., Drier Y., Zou L., Ramos AH, Pugh TJ, Stransky N., Helman E., Kim J., et al. Nature, 2013/07/11, Volume 499, Issue 7457, p.214-8, (2013) Read More / View Supplemental Materials
Abstract
Comprehensive molecular characterization of clear cell renal cell carcinoma.The Cancer Genome Atlas Research, Network, Analysis working group: Baylor College of Medicine, Creighton CJ, Morgan M., Gunaratne PH, Wheeler DA, Gibbs RA, BC Cancer Agency, Gordon Robertson A., Chu A., Broad Institute, Beroukhim R., Cibulskis K., Brigham & Women’s Hospital, Signoretti S., Brown University, Vandin Hsin-Ta Wu F., Raphael BJ, The University of Texas MD Anderson Cancer Center, Verhaak RG, et al. Nature, 2013/06/23, (2013) Read More / View Supplemental Materials
Abstract
Integrated genomic characterization of endometrial carcinoma.Cancer Genome Atlas Research, Network, Genome sequencing centres: Broad Institute, Getz G., Gabriel SB, Cibulskis K., Lander E., Sivachenko A., Sougnez C., Lawrence M., Washington University in St Louis, Kandoth C., Dooling D., Fulton R., Fulton L., Kalicki-Veizer J., McLellan MD, O'Laughlin M., Schmidt H., Wilson RK, Ye K., et al. Nature, 2013/05/02, Volume 497, Issue 7447, p.67-73, (2013) Read More / View Supplemental Materials
Abstract
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.Dulak, AM, Stojanov P., Peng S., Lawrence MS, Fox C., Stewart C., Bandla S., Imamura Y., Schumacher SE, Shefler E., McKenna A., Carter SL, Cibulskis K., Sivachenko A., Saksena G., Voet D., Ramos AH, Auclair D., Thompson K., Sougnez C., et al. Nature genetics, 2013/04/26, Volume 45, Issue 5, p.478-86, (2013) Read More / View Supplemental Materials
Abstract
Punctuated evolution of prostate cancer genomes.Baca, SC, Prandi D., Lawrence MS, Mosquera JM, Romanel A., Drier Y., Park K., Kitabayashi N., MacDonald TY, Ghandi M., Van Allen E., Kryukov GV, Sboner A., Theurillat JP, Soong TD, Nickerson E., Auclair D., Tewari A., Beltran H., Onofrio RC, et al. Cell, 2013/04/25, Volume 153, Issue 3, p.666-77, (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
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.Yu, TW, Chahrour MH, Coulter ME, Jiralerspong S., Okamura-Ikeda K., Ataman B., Schmitz-Abe K., Harmin DA, Adli M., Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J., Nasir RH, Ware J., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.259-273, (2013) Read More / View Supplemental Materials
Abstract
The genetic landscape of high-risk neuroblastoma.Pugh, TJ, Morozova O., Attiyeh EF, Asgharzadeh S., Wei JS, Auclair D., Carter SL, Cibulskis K., Hanna M., Kiezun A., Kim J., Lawrence MS, McKenna A., Pedamallu CS, Ramos AH, Shefler E., Sivachenko A., Sougnez C., Stewart C., Ally A., et al. Nature genetics, 2013/01/20, (2013) Read More / View Supplemental Materials
Abstract
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation.Costello, M., Pugh TJ, Fennell TJ, Stewart C., Lichtenstein L., Meldrim JC, Fostel JL, Friedrich DC, Perrin D., Dionne D., Kim S., Gabriel SB, Lander E. S., Fisher S., and Getz G. Nucleic acids research, 2013/01/08, (2013) Read More / View Supplemental Materials
Abstract
2012
Addendum: The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.Barretina, J., Caponigro G., Stransky N., Venkatesan K., Margolin AA, Kim S., Wilson CJ, Lehár J., Kryukov GV, Sonkin D., Reddy A., Liu M., Murray L., Berger MF, Monahan JE, Morais P., Meltzer J., Korejwa A., Jané-Valbuena J., Mapa FA, et al. Nature, 2012/12/13, Volume 492, Issue 7428, p.290, (2012) Read More / View Supplemental Materials
Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability.Drier, Y., Lawrence MS, Carter SL, Stewart C., Gabriel SB, Lander E. S., Meyerson M., Beroukhim R., and Getz G. Genome research, 2012/11/02, (2012) Read More / View Supplemental Materials
Abstract
Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing.Imielinski, M., Berger AH, Hammerman PS, Hernandez B., Pugh TJ, Hodis E., Cho J., Sivachenko A., Sougnez C., Auclair D., Lawrence MS, Stojanov P., Cibulskis K., Sharifnia T., Greulich H., Banerji S., Zander T., Thompson K., Winckler W., Kwiatkowski D., et al. Cell, 2012/09/14, Volume 150, Issue 6, p.1107-20, (2012) Read More / View Supplemental Materials
Abstract
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
Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.Friedman, J., Olvera J., Silhavy JL, Gabriel SB, and Gleeson JG Neurology, 2012/08/15, (2012) Read More / View Supplemental Materials
Abstract
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.Pugh, TJ, Weeraratne SD, Archer TC, Pomeranz Krummel DA, Auclair D., Bochicchio J., Carneiro MO, Carter SL, Cibulskis K., Erlich RL, Greulich H., Lawrence MS, Lennon NJ, McKenna A., Meldrim J., Ramos AH, Ross MG, Russ C., Shefler E., Sivachenko A., et al. Nature, 2012/08/02, Volume 488, Issue 7409, p.106-10, (2012) Read More / View Supplemental Materials
Abstract
A landscape of driver mutations in melanoma.Hodis, E., Watson IR, Kryukov GV, Arold ST, Imielinski M., Theurillat JP, Nickerson E., Auclair D., Li L., Place C., Dicara D., Ramos AH, Lawrence MS, Cibulskis K., Sivachenko A., Voet D., Saksena G., Stransky N., Onofrio RC, Winckler W., et al. Cell, 2012/07/20, Volume 150, Issue 2, p.251-63, (2012) Read More / View Supplemental Materials
Abstract
Sequence analysis of mutations and translocations across breast cancer subtypes.Banerji, S., Cibulskis K., Rangel-Escareno C., Brown KK, Carter SL, Frederick AM, Lawrence MS, Sivachenko AY, Sougnez C., Zou L., Cortes ML, Fernandez-Lopez JC, Peng S., Ardlie KG, Auclair D., Bautista-Piña V., Duke F., Francis J., Jung J., Maffuz-Aziz A., et al. Nature, 2012/06/20, Volume 486, Issue 7403, p.405-9, (2012) Read More / View Supplemental Materials
Abstract
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer.Barbieri, CE, Baca SC, Lawrence MS, Demichelis F., Blattner M., Theurillat JP, White TA, Stojanov P., Van Allen E., Stransky N., Nickerson E., Chae SS, Boysen G., Auclair D., Onofrio RC, Park K., Kitabayashi N., MacDonald TY, Sheikh K., Vuong T., et al. Nature genetics, 2012/05/20, Volume 44, Issue 6, p.685-9, (2012) Read More / View Supplemental Materials
Abstract
Melanoma genome sequencing reveals frequent PREX2 mutations.Berger, MF, Hodis E., Heffernan TP, Deribe YL, Lawrence MS, Protopopov A., Ivanova E., Watson IR, Nickerson E., Ghosh P., Zhang H., Zeid R., Ren X., Cibulskis K., Sivachenko AY, Wagle N., Sucker A., Sougnez C., Onofrio R., Ambrogio L., et al. Nature, 2012/05/09, Volume 485, Issue 7399, p.502-6, (2012) Read More / View Supplemental Materials
Abstract
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.Barretina, J., Caponigro G., Stransky N., Venkatesan K., Margolin AA, Kim S., Wilson CJ, Lehár J., Kryukov GV, Sonkin D., Reddy A., Liu M., Murray L., Berger MF, Monahan JE, Morais P., Meltzer J., Korejwa A., Jané-Valbuena J., Mapa FA, et al. Nature, 2012/03/28, Volume 483, Issue 7391, p.603-7, (2012) Read More / View Supplemental Materials
Abstract
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.Wagle, N., Berger MF, Davis MJ, Blumenstiel B., DeFelice M., Pochanard P., Ducar M., Van Hummelen P., Macconaill LE, Hahn WC, Meyerson M., Gabriel SB, and Garraway LA Cancer discovery, 2012/01/01, Volume 2, Issue 1, p.82-93, (2012) Read More / View Supplemental Materials
Abstract
Multi-Ethnic Analysis of Lipid-Associated Loci: The NHLBI CARe Project.Musunuru, K., Romaine SP, Lettre G., Wilson JG, Volcik KA, Tsai MY, Taylor HA Jr, Schreiner PJ, Rotter JI, Rich SS, Redline S., Psaty BM, Papanicolaou GJ, Ordovas JM, Liu K., Krauss RM, Glazer NL, Gabriel SB, Fornage M., Cupples LA, et al. PloS one, 2012/01/01, Volume 7, Issue 5, p.e36473, (2012) Read More / View Supplemental Materials
Abstract
2011
The mutational landscape of head and neck squamous cell carcinoma.Stransky, N., Egloff AM, Tward AD, Kostic AD, Cibulskis K., Sivachenko A., Kryukov GV, Lawrence MS, Sougnez C., McKenna A., Shefler E., Ramos AH, Stojanov P., Carter SL, Voet D., Cortés ML, Auclair D., Berger MF, Saksena G., Guiducci C., et al. Science (New York, N.Y.), 2011/08/26, Volume 333, Issue 6046, p.1157-60, (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
Initial genome sequencing and analysis of multiple myeloma.Chapman, MA, Lawrence MS, Keats JJ, Cibulskis K., Sougnez C., Schinzel AC, Harview CL, Brunet JP, Ahmann GJ, Adli M., Anderson KC, Ardlie KG, Auclair D., Baker A., Bergsagel PL, Bernstein BE, Drier Y., Fonseca R., Gabriel SB, Hofmeister CC, et al. Nature, 2011/03/24, Volume 471, Issue 7339, p.467-72, (2011) Read More / View Supplemental Materials
Abstract
The genomic complexity of primary human prostate cancer.Berger, MF, Lawrence MS, Demichelis F., Drier Y., Cibulskis K., Sivachenko AY, Sboner A., Esgueva R., Pflueger D., Sougnez C., Onofrio R., Carter SL, Park K., Habegger L., Ambrogio L., Fennell T., Parkin M., Saksena G., Voet D., Ramos AH, et al. Nature, 2011/02/10, Volume 470, Issue 7333, p.214-20, (2011) Read More / View Supplemental Materials
Abstract
2010
Integrating common and rare genetic variation in diverse human populations.International HapMap 3, Consortium, Altshuler DM, Gibbs RA, Peltonen L., Altshuler DM, Gibbs RA, Peltonen L., Dermitzakis E., Schaffner SF, Yu F., Peltonen L., Dermitzakis E., Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P., Gabriel SB, Gwilliam R., Hunt S., et al. Nature, 2010/09/02, Volume 467, Issue 7311, p.52-8, (2010) Read More / View Supplemental Materials
Abstract
Candidate gene association resource (CARe): design, methods, and proof of concept.Musunuru, K., Lettre G., Young T., Farlow DN, Pirruccello JP, Ejebe KG, Keating BJ, Yang Q., Chen MH, Lapchyk N., Crenshaw A., Ziaugra L., Rachupka A., Benjamin EJ, Cupples LA, Fornage M., Fox ER, Heckbert SR, Hirschhorn JN, Newton-Cheh C., et al. Circulation. Cardiovascular genetics, 2010/06/01, Volume 3, Issue 3, p.267-75, (2010) Read More / View Supplemental Materials
Abstract
Integrative analysis of the melanoma transcriptome.Berger, MF, Levin JZ, Vijayendran K., Sivachenko A., Adiconis X., Maguire J., Johnson LA, Robinson J., Verhaak RG, Sougnez C., Onofrio RC, Ziaugra L., Cibulskis K., Laine E., Barretina J., Winckler W., Fisher DE, Getz G., Meyerson M., Jaffe DB, et al. Genome research, 2010/04/01, Volume 20, Issue 4, p.413-27, (2010) Read More / View Supplemental Materials
Abstract
2008
Somatic mutations affect key pathways in lung adenocarcinoma.Ding, L., Getz G., Wheeler DA, Mardis ER, McLellan MD, Cibulskis K., Sougnez C., Greulich H., Muzny DM, Morgan MB, Fulton L., Fulton RS, Zhang Q., Wendl MC, Lawrence MS, Larson DE, Chen K., Dooling DJ, Sabo A., Hawes AC, et al. Nature, 2008/10/23, Volume 455, Issue 7216, p.1069-75, (2008) Read More / View Supplemental Materials
Abstract
Integrated detection and population-genetic analysis of SNPs and copy number variation.McCarroll, SA, Kuruvilla FG, Korn JM, Cawley S., Nemesh J., Wysoker A., Shapero MH, de Bakker PI, Maller JB, Kirby A., Elliott AL, Parkin M., Hubbell E., Webster T., Mei R., Veitch J., Collins PJ, Handsaker R., Lincoln S., Nizzari M., et al. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1166-74, (2008) Read More / View Supplemental Materials
Abstract
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.Korn, JM, Kuruvilla FG, McCarroll SA, Wysoker A., Nemesh J., Cawley S., Hubbell E., Veitch J., Collins PJ, Darvishi K., Lee C., Nizzari MM, Gabriel SB, Purcell S., Daly M. J., and Altshuler D. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1253-60, (2008) Read More / View Supplemental Materials
Abstract
2007
Characterizing the cancer genome in lung adenocarcinoma.Weir, BA, Woo MS, Getz G., Perner S., Ding L., Beroukhim R., Lin WM, Province MA, Kraja A., Johnson LA, Shah K., Sato M., Thomas RK, Barletta JA, Borecki IB, Broderick S., Chang AC, Chiang DY, Chirieac LR, Cho J., et al. Nature, 2007/12/06, Volume 450, Issue 7171, p.893-8, (2007) Read More / View Supplemental Materials
Abstract
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.Plenge, RM, Cotsapas C., Davies L., Price AL, de Bakker PI, Maller J., Pe'er I., Burtt NP, Blumenstiel B., DeFelice M., Parkin M., Barry R., Winslow W., Healy C., Graham RR, Neale BM, Izmailova E., Roubenoff R., Parker AN, Glass R., et al. Nature genetics, 2007/12/01, Volume 39, Issue 12, p.1477-82, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide detection and characterization of positive selection in human populations.Sabeti, PC, Varilly P., Fry B., Lohmueller J., Hostetter E., Cotsapas C., Xie X., Byrne EH, McCarroll SA, Gaudet R., Schaffner SF, Lander E. S., International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, et al. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007) Read More / View Supplemental Materials
Abstract
Risk alleles for multiple sclerosis identified by a genomewide study.International Multiple Sclerosis Genetics, Consortium, Hafler DA, Compston A., Sawcer S., Lander E. S., Daly M. J., De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B., Oksenberg JR, and Hauser SL The New England journal of medicine, 2007/08/30, Volume 357, Issue 9, p.851-62, (2007) Read More / View Supplemental Materials
Abstract
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.and of Diabetes Genetics Initiative of Broad Institute of Harvard and MIT, Lund University, Novartis Institutes BioMedical Rese, Saxena R., Voight BF, Lyssenko V., Burtt NP, de Bakker PI, Chen H., Roix JJ, Kathiresan S., Hirschhorn JN, Daly M. J., Hughes TE, Groop L., Altshuler D., Almgren P., Florez JC, Meyer J., Ardlie K., Bengtsson Boström K., Isomaa B., et al. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007) Read More / View Supplemental Materials
Abstract
2004
Assessing the impact of population stratification on genetic association studies.Freedman, ML, Reich D., Penney KL, McDonald GJ, Mignault AA, Patterson N., Gabriel SB, Topol EJ, Smoller JW, Pato CN, Pato MT, Petryshen TL, Kolonel LN, Lander E. S., Sklar P., Henderson B., Hirschhorn JN, and Altshuler D. Nature genetics, 2004/04/01, Volume 36, Issue 4, p.388-93, (2004) Read More / View Supplemental Materials
Abstract
  • Showing 1-45 of 45 Results