Common polymorphic transcript variation in human disease.
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[1] Elliott Kieff,et al. Genetic Analysis of Human Traits In Vitro: Drug Response and Gene Expression in Lymphoblastoid Cell Lines , 2008, PLoS genetics.
[2] Jacek Majewski,et al. Genome-wide analysis of transcript isoform variation in humans , 2008, Nature Genetics.
[3] K. Mossman. The Wellcome Trust Case Control Consortium, U.K. , 2008 .
[4] Simon C. Potter,et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants , 2007, Nature Genetics.
[5] Zhaohui S. Qin,et al. A second generation human haplotype map of over 3.1 million SNPs , 2007, Nature.
[6] Pardis C Sabeti,et al. Genome-wide detection and characterization of positive selection in human populations , 2007, Nature.
[7] Michael Kertesz,et al. The role of site accessibility in microRNA target recognition , 2007, Nature Genetics.
[8] Anbupalam Thalamuthu,et al. TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. , 2007, The New England journal of medicine.
[9] Harry Zuzan,et al. Heritability of alternative splicing in the human genome. , 2007, Genome research.
[10] D. Gudbjartsson,et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes , 2007, Nature Genetics.
[11] Steven Gallinger,et al. Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24 , 2007, Nature Genetics.
[12] Michael Krawczak,et al. A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease , 2007, Nature Genetics.
[13] Oliver Sieber,et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 , 2007, Nature Genetics.
[14] Christian Gieger,et al. Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions , 2007, Nature Genetics.
[15] Gonçalo R. Abecasis,et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma , 2007, Nature.
[16] Eric E. Smith,et al. Variants conferring risk of atrial fibrillation on chromosome 4q25 , 2007, Nature.
[17] R. A. Bailey,et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes , 2007, Nature Genetics.
[18] A. Syvänen,et al. Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. , 2007, Arthritis and rheumatism.
[19] P. Deloukas,et al. A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 , 2007, Nature Genetics.
[20] Lester L. Peters,et al. Genome-wide association study identifies novel breast cancer susceptibility loci , 2007, Nature.
[21] Simon C. Potter,et al. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.
[22] M. Eileen Dolan,et al. A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity , 2007, Proceedings of the National Academy of Sciences.
[23] M. McCarthy,et al. Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes , 2007, Science.
[24] Marcia M. Nizzari,et al. Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels , 2007, Science.
[25] J. Gulcher,et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes , 2007, Nature Genetics.
[26] G. Abecasis,et al. A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants , 2007, Science.
[27] W. Willett,et al. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer , 2007, Nature Genetics.
[28] M. Jarvelin,et al. A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity , 2007, Science.
[29] Geoffrey Hom,et al. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus , 2007, Proceedings of the National Academy of Sciences.
[30] Javier Martín,et al. Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus. , 2007, Arthritis and rheumatism.
[31] Jonathan C. Cohen,et al. A Common Allele on Chromosome 9 Associated with Coronary Heart Disease , 2007, Science.
[32] T. Hudson,et al. A genome-wide association study identifies novel risk loci for type 2 diabetes , 2007, Nature.
[33] R. Redon,et al. Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes , 2007, Science.
[34] Soo Young Lee,et al. TRAF1 and its biological functions. , 2007, Advances in experimental medicine and biology.
[35] Tyson A. Clark,et al. Discovery of tissue-specific exons using comprehensive human exon microarrays , 2007, Genome Biology.
[36] A. Alcina,et al. OAS1 gene haplotype confers susceptibility to multiple sclerosis. , 2006, Tissue antigens.
[37] Pardis C Sabeti,et al. Positive Natural Selection in the Human Lineage , 2006, Science.
[38] E. Rugarli,et al. The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria , 2005, Cell.
[39] D. Baralle,et al. Splicing in action: assessing disease causing sequence changes , 2005, Journal of Medical Genetics.
[40] F. Pociot,et al. Variation in antiviral 2',5'-oligoadenylate synthetase (2'5'AS) enzyme activity is controlled by a single-nucleotide polymorphism at a splice-acceptor site in the OAS1 gene. , 2005, American journal of human genetics.
[41] Dirk Holste,et al. Single Nucleotide Polymorphism–Based Validation of Exonic Splicing Enhancers , 2004, PLoS biology.
[42] Francisco E. Baralle,et al. Genomic variants in exons and introns: identifying the splicing spoilers , 2004, Nature Reviews Genetics.
[43] Thomas J. Hudson,et al. Characterization of a Common Susceptibility Locus for Asthma-Related Traits , 2004, Science.
[44] D. Cooper,et al. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences , 1992, Human Genetics.
[45] Jennifer Daub,et al. Expressed sequence tags: medium-throughput protocols. , 2004, Methods in molecular biology.
[46] Brad T. Sherman,et al. DAVID: Database for Annotation, Visualization, and Integrated Discovery , 2003, Genome Biology.
[47] Luc J. Smink,et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease , 2003, Nature.
[48] M. Bamshad,et al. Signatures of natural selection in the human genome , 2003, Nature Reviews Genetics.
[49] Terence P. Speed,et al. A comparison of normalization methods for high density oligonucleotide array data based on variance and bias , 2003, Bioinform..
[50] Robert S. Ledley,et al. The Protein Information Resource , 2003, Nucleic Acids Res..
[51] T. Cooper,et al. Finding signals that regulate alternative splicing in the post-genomic era , 2002, Genome Biology.
[52] J. ten Hoeve,et al. Identification of a Nuclear Stat1 Protein Tyrosine Phosphatase , 2002, Molecular and Cellular Biology.
[53] A. Weiss,et al. A CD45 Polymorphism Associated with Multiple Sclerosis Disrupts an Exonic Splicing Silencer* , 2001, The Journal of Biological Chemistry.
[54] M. Tremblay,et al. The T-cell protein tyrosine phosphatase. , 2000, Seminars in immunology.
[55] M. Ashburner,et al. Gene Ontology: tool for the unification of biology , 2000, Nature Genetics.
[56] L. Almasy,et al. Multipoint quantitative-trait linkage analysis in general pedigrees. , 1998, American journal of human genetics.
[57] M. Boguski,et al. dbEST — database for “expressed sequence tags” , 1993, Nature Genetics.