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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013)
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013)
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zCall: A Rare Variant Caller for Array-based Genotyping. Bioinformatics (Oxford, England), 2012/07/27, (2012)
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Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nature genetics, 2012/05/20, Volume 44, Issue 6, p.631-5, (2012)
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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012)
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A genome-wide scan for common variants affecting the rate of age-related cognitive decline. Neurobiology of aging, 2011/11/03, (2011)
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A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nature genetics, 2011/10/23, Volume 43, Issue 12, p.1232-6, (2011)
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Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011)
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Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Nature genetics, 2011/07/24, Volume 43, Issue 8, p.801-5, (2011)
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A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nature genetics, 2011/05/01, Volume 43, Issue 5, p.491-8, (2011)
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Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS genetics, 2011/01/13, Volume 7, Issue 1, p.e1001273, (2011)
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LRRK2 is involved in the IFN-gamma response and host response to pathogens. Journal of immunology (Baltimore, Md. : 1950), 2010/11/01, Volume 185, Issue 9, p.5577-85, (2010)
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Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS genetics, 2010/09/09, Volume 6, Issue 9, (2010)
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Integrating common and rare genetic variation in diverse human populations. Nature, 2010/09/02, Volume 467, Issue 7311, p.52-8, (2010)
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Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS genetics, 2010/08/12, Volume 6, Issue 8, (2010)
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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature genetics, 2010/07/01, Volume 42, Issue 7, p.579-89, (2010)
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Genetic resistance to diet-induced obesity in chromosome substitution strains of mice. Mammalian genome : official journal of the International Mammalian Genome Society, 2010/04/01, Volume 21, Issue 3-4, p.115-29, (2010)
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The landscape of somatic copy-number alteration across human cancers. Nature, 2010/02/18, Volume 463, Issue 7283, p.899-905, (2010)
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Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS genetics, 2009/06/01, Volume 5, Issue 6, p.e1000534, (2009)
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Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. Heart rhythm : the official journal of the Heart Rhythm Society, 2009/05/01, Volume 6, Issue 5, p.634-41, (2009)
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Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis. Proceedings of the National Academy of Sciences of the United States of America, 2008/12/16, Volume 105, Issue 50, p.19910-4, (2008)
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Genetic mapping in human disease. Science (New York, N.Y.), 2008/11/07, Volume 322, Issue 5903, p.881-8, (2008)
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Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS genetics, 2008/11/01, Volume 4, Issue 11, p.e1000287, (2008)
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Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1216-23, (2008)
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Integrated detection and population-genetic analysis of SNPs and copy number variation. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1166-74, (2008)
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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nature genetics, 2008/10/01, Volume 40, Issue 10, p.1253-60, (2008)
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Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nature genetics, 2008/09/01, Volume 40, Issue 9, p.1059-61, (2008)
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Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nature genetics, 2007/12/01, Volume 39, Issue 12, p.1477-82, (2007)
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Genome-wide detection and characterization of positive selection in human populations. Nature, 2007/10/18, Volume 449, Issue 7164, p.913-8, (2007)
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Risk alleles for multiple sclerosis identified by a genomewide study. The New England journal of medicine, 2007/08/30, Volume 357, Issue 9, p.851-62, (2007)
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Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (New York, N.Y.), 2007/06/01, Volume 316, Issue 5829, p.1331-6, (2007)
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Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proceedings of the National Academy of Sciences of the United States of America, 2007/04/17, Volume 104, Issue 16, p.6758-63, (2007)
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Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes, 2007/03/01, Volume 56, Issue 3, p.685-93, (2007)
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A second major histocompatibility complex susceptibility locus for multiple sclerosis. Annals of neurology, 2007/03/01, Volume 61, Issue 3, p.228-36, (2007)
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Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia. American journal of human genetics, 2006/11/01, Volume 79, Issue 5, p.903-9, (2006)
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Transferability of tag SNPs in genetic association studies in multiple populations. Nature genetics, 2006/11/01, Volume 38, Issue 11, p.1298-303, (2006)
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Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes, 2006/10/01, Volume 55, Issue 10, p.2890-5, (2006)
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A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nature genetics, 2006/10/01, Volume 38, Issue 10, p.1166-72, (2006)
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Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19. European journal of human genetics : EJHG, 2006/06/01, Volume 14, Issue 6, p.780-90, (2006)
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Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature, 2005/12/08, Volume 438, Issue 7069, p.803-19, (2005)
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Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Molecular psychiatry, 2005/12/01, Volume 10, Issue 12, p.1074-88, 1057, (2005)
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Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains. Genetics, 2005/12/01, Volume 171, Issue 4, p.1895-904, (2005)
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Calibrating a coalescent simulation of human genome sequence variation. Genome research, 2005/11/01, Volume 15, Issue 11, p.1576-83, (2005)
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A high-density screen for linkage in multiple sclerosis. American journal of human genetics, 2005/09/01, Volume 77, Issue 3, p.454-67, (2005)
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Association of DLG5 R30Q variant with inflammatory bowel disease. European journal of human genetics : EJHG, 2005/07/01, Volume 13, Issue 7, p.835-9, (2005)
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Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Molecular psychiatry, 2005/04/01, Volume 10, Issue 4, p.366-74, 328, (2005)
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Genome-wide association studies for common diseases and complex traits. Nature reviews. Genetics, 2005/02/01, Volume 6, Issue 2, p.95-108, (2005)
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Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci. American journal of medical genetics. Part A, 2004/11/01, Volume 130A, Issue 4, p.345-50, (2004)
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Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. Human molecular genetics, 2004/09/01, Volume 13, Issue 17, p.1943-9, (2004)
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Methods for high-density admixture mapping of disease genes. American journal of human genetics, 2004/05/01, Volume 74, Issue 5, p.979-1000, (2004)
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Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays Nature Biotechnology, 2000/09//, Volume 18, Issue 9, p.1001 - 5, (2000)
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