Variation in the human genome and the inherited basis of common diseaseGABRIEL, Stacey.Seminars in oncology. 2006, Vol 33, Num 6, issn 0093-7754, S46-S49, SUP11Conference Paper

Advances in understanding cancer genomes through second-generation sequencingMEYERSON, Matthew; GABRIEL, Stacey; GETZ, Gad et al.Nature reviews. Genetics (Print). 2010, Vol 11, Num 10, pp 685-696, issn 1471-0056, 12 p.Article

Quality and completeness of SNP databasesREICH, David E; GABRIEL, Stacey B; ALTSHULER, David et al.Nature genetics. 2003, Vol 33, Num 4, pp 457-458, issn 1061-4036, 2 p.Article

Population genetic tools : Application to cancerGABRIEL, Stacey.Seminars in oncology. 2007, Vol 34, Num 2, issn 0093-7754, S21-S24, SUP1Conference Paper

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemiaMAHDI MOTAZACKER, Mohammad; PIRRUCCELLO, James; ZELCER, Noam et al.European heart journal. 2012, Vol 33, Num 11, pp 1360-1366, issn 0195-668X, 7 p.Article

DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthmaBARON, Rebecca M; PALMER, Lyle J; SILVERMAN, Eric S et al.American journal of respiratory and critical care medicine. 2002, Vol 166, Num 7, pp 927-932, issn 1073-449XArticle

Genome-wide association analysis of metabolic traits in a birth cohort from a founder populationSABATTI, Chiara; SERVICE, Susan K; SOVIO, Ulla et al.Nature genetics. 2009, Vol 41, Num 1, pp 35-46, issn 1061-4036, 12 p.Article

Gene Expression in Fixed Tissues and Outcome in Hepatocellular CarcinomaHOSHIDA, Yujin; VILLANUEVA, Augusto; REICH, Michael et al.The New England journal of medicine. 2008, Vol 359, Num 19, pp 1995-2004, issn 0028-4793, 10 p.Article

Single nucleotide polymorphisms in multiple novel thrombospondin genes may be associated with familial premature myocardial infarctionTOPOL, Eric J; MCCARTHY, Jeanette; KOTTKE-MARCHANT, Kandice et al.Circulation (New York, N.Y.). 2001, Vol 104, Num 22, pp 2641-2644, issn 0009-7322Article

Age-Related Clonal Hematopoiesis Associated with Adverse OutcomesJAISWAL, Siddhartha; FONTANILLAS, Pierre; HIGGINS, John M et al.The New England journal of medicine. 2014, Vol 371, Num 26, pp 2488-2498, issn 0028-4793, 11 p.Article

High-throughput oncogene mutation profiling in human cancerTHOMAS, Roman K; BAKER, Alissa C; LEE, Jeffrey C et al.Nature genetics. 2007, Vol 39, Num 3, pp 347-351, issn 1061-4036, 5 p.Article

EGFR mutations in lung cancer: Correlation with clinical response to gefitinib therapyPAEZ, J. Guillermo; JÄNNE, Pasi A; NAOKI, Katsuhiko et al.Science (Washington, D.C.). 2004, Vol 304, Num 5676, pp 1497-1500, issn 0036-8075, 4 p.Article

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with EpilepsyNOVARINO, Gaia; EL-FISHAWY, Paul; GULHAN ERCAN-SENCICEK, A et al.Science (Washington, D.C.). 2012, Vol 338, Num 6105, pp 394-397, issn 0036-8075, 4 p.Article

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel diseaseRIVAS, Manuela; BEAUDOIN, Mélissa; FENNELL, Tim et al.Nature genetics. 2011, Vol 43, Num 11, pp 1066-1073, issn 1061-4036, 8 p.Article

Genomic sequencing of colorectal adenocarcinomas identifies a recurrent YTI1A-TCF7L2 fusionBASS, Adam J; LAWRENCE, Michael S; RUI JING et al.Nature genetics. 2011, Vol 43, Num 10, pp 964-968, issn 1061-4036, 5 p.Article

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of FallotGREENWAY, Steven C; PEREIRA, Alexandre C; GORHAM, Joshua M et al.Nature genetics. 2009, Vol 41, Num 8, pp 931-935, issn 1061-4036, 5 p.Article

Integrative Transcriptome Analysis Reveals Common Molecular Subclasses of Human Hepatocellular CarcinomaHOSHIDA, Yujin; NIJMAN, Sebastian M. B; WATANABE, Goro et al.Cancer research (Chicago, Ill.). 2009, Vol 69, Num 18, pp 7385-7392, issn 0008-5472, 8 p.Article

Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino PopulationESTRADA, Karol; AUKRUST, Ingvild; WILLIAMS, Amy L et al.JAMA, the journal of the American Medical Association. 2014, Vol 311, Num 22, pp 2305-2314, issn 0098-7484, 10 p.Article

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarctionSHEA, Jessica; AGARWALA, Vineeta; GABRIEL, Stacey et al.Nature genetics. 2011, Vol 43, Num 8, pp 801-805, issn 1061-4036, 5 p.Article

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants: Updated Guidelines From a National Heart, Lung, and Blood Institute Working GroupFABSITZ, Richard R; MCGUIRE, Amy; WRIGHT CLAYTON, Ellen et al.Circulation. Cardiovascular genetics (Print). 2010, Vol 3, Num 6, pp 574-580, issn 1942-325X, 7 p.Article

Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroidsTANTISIRA, Kelan G; LAKE, Stephen; ISRAEL, Elliot et al.Human molecular genetics (Print). 2004, Vol 13, Num 13, pp 1353-1359, issn 0964-6906, 7 p.Article

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human ExomesTENNESSEN, Jacob A; BIGHAM, Abigail W; HYUN MIN KANG et al.Science (Washington, D.C.). 2012, Vol 337, Num 6090, pp 64-69, issn 0036-8075, 6 p.Article

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndromeJOSE MARTINEZ, Fernando; JEONG HO LEE; JI EUN LEE et al.Journal of medical genetics. 2012, Vol 49, Num 6, pp 380-385, issn 0022-2593, 6 p.Article

Patterns and rates of exonic de novo mutations in autism spectrum disordersNEALE, Benjamin M; YAN KOU; POLAK, Paz et al.Nature (London). 2012, Vol 485, Num 7397, pp 242-245, issn 0028-0836, 4 p.Article

SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic LeukemiaLILI WANG; LAWRENCE, Michael S; WANDI ZHANG et al.The New England journal of medicine. 2011, Vol 365, Num 26, pp 2497-2506, issn 0028-4793, 10 p.Article