Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies.

[1]  Adan Valladares-Salgado,et al.  Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. , 2014, American journal of human genetics.

[2]  Han Xu,et al.  Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. , 2014, American journal of human genetics.

[3]  O. Lichtarge,et al.  A formal perturbation equation between genotype and phenotype determines the Evolutionary Action of protein-coding variations on fitness , 2014, Genome research.

[4]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[5]  Tomohiro Watanabe,et al.  Cellular and molecular mechanisms underlying NOD2 risk‐associated polymorphisms in Crohn's disease , 2014, Immunological reviews.

[6]  Brock Grill,et al.  The Nesprin Family Member ANC-1 Regulates Synapse Formation and Axon Termination by Functioning in a Pathway with RPM-1 and β-Catenin , 2014, PLoS genetics.

[7]  Z. Li,et al.  Sonic Hedgehog Signaling Drives Proliferation of Synoviocytes in Rheumatoid Arthritis: A Possible Novel Therapeutic Target , 2014, Journal of immunology research.

[8]  Peggy Hall,et al.  The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..

[9]  J. Pablos,et al.  Transforming growth factor (TGF)‐β signalling is increased in rheumatoid synovium but TGF‐β blockade does not modify experimental arthritis , 2013, Clinical and experimental immunology.

[10]  Chris Sander,et al.  Emerging landscape of oncogenic signatures across human cancers , 2013, Nature Genetics.

[11]  P. Stenson,et al.  The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine , 2013, Human Genetics.

[12]  E. Bonifacio,et al.  Concentration and Activity of the Soluble Form of the Interleukin-7 Receptor α in Type 1 Diabetes Identifies an Interplay Between Hyperglycemia and Immune Function , 2013, Diabetes.

[13]  D. Grozeva,et al.  Association at SYNE1 in both bipolar disorder and recurrent major depression , 2013, Molecular Psychiatry.

[14]  Mark Gerstein,et al.  The origin, evolution, and functional impact of short insertion–deletion variants identified in 179 human genomes , 2013, Genome research.

[15]  D. MacArthur,et al.  Negligible impact of rare autoimmune-locus coding-region variants on missing heritability , 2013, Nature.

[16]  David C. Wilson,et al.  Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease , 2012, Nature.

[17]  Shane J. Neph,et al.  Systematic Localization of Common Disease-Associated Variation in Regulatory DNA , 2012, Science.

[18]  J. Marchini,et al.  Fast and accurate genotype imputation in genome-wide association studies through pre-phasing , 2012, Nature Genetics.

[19]  John Moult,et al.  Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase , 2012, Proteins.

[20]  O. Delaneau,et al.  A linear complexity phasing method for thousands of genomes , 2011, Nature Methods.

[21]  Lipika R. Pal,et al.  Protein Characterization of a Candidate Mechanism SNP for Crohn's Disease: The Macrophage Stimulating Protein R689C Substitution , 2011, PloS one.

[22]  J. Marchini,et al.  Genotype Imputation with Thousands of Genomes , 2011, G3: Genes | Genomes | Genetics.

[23]  J. Moult,et al.  Structural and functional impact of cancer-related missense somatic mutations. , 2011, Journal of molecular biology.

[24]  Christian Gieger,et al.  Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk , 2011, Nature.

[25]  Bin Zhang,et al.  Association of SNP rs17465637 on Chromosome 1q41 and rs599839 on 1p13.3 with Myocardial Infarction in an American Caucasian Population , 2011, Annals of human genetics.

[26]  Jose M. Duarte,et al.  The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors , 2011, Molecular Cancer.

[27]  Tariq Ahmad,et al.  Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci , 2010, Nature Genetics.

[28]  D. Hernandez,et al.  Multiple Genetic Loci Influence Serum Urate Levels and Their Relationship With Gout and Cardiovascular Disease Risk Factors , 2010, Circulation. Cardiovascular genetics.

[29]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[30]  Sharon R Grossman,et al.  Integrating common and rare genetic variation in diverse human populations , 2010, Nature.

[31]  J. Marchini,et al.  Genotype imputation for genome-wide association studies , 2010, Nature Reviews Genetics.

[32]  A. Goris,et al.  Replication of KIF21B as a susceptibility locus for multiple sclerosis , 2010, Journal of Medical Genetics.

[33]  L. Stein,et al.  A human functional protein interaction network and its application to cancer data analysis , 2010, Genome Biology.

[34]  N. Cox,et al.  Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS , 2010, PLoS genetics.

[35]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[36]  Margaret A. Pericak-Vance,et al.  Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci , 2009, Human molecular genetics.

[37]  Shamil R Sunyaev,et al.  Pooled association tests for rare variants in exon-resequencing studies. , 2010, American journal of human genetics.

[38]  J. Takagi,et al.  Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor , 2009, Proceedings of the National Academy of Sciences.

[39]  Matthieu Schapira,et al.  A survey of proteins encoded by non-synonymous single nucleotide polymorphisms reveals a significant fraction with altered stability and activity. , 2009, The Biochemical journal.

[40]  J. Deckers,et al.  Lower levels of ADAMTS13 are associated with cardiovascular disease in young patients. , 2009, Atherosclerosis.

[41]  Predrag Radivojac,et al.  Automated inference of molecular mechanisms of disease from amino acid substitutions , 2009, Bioinform..

[42]  J. Houwing-Duistermaat,et al.  Gene Variants in the Novel Type 2 Diabetes Loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B Affect Different Aspects of Pancreatic β-Cell Function , 2009, Diabetes.

[43]  M. Daly,et al.  Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions , 2009, PLoS genetics.

[44]  P. Donnelly,et al.  A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies , 2009, PLoS genetics.

[45]  L. Liang,et al.  Mapping complex disease traits with global gene expression , 2009, Nature Reviews Genetics.

[46]  S. Ellard,et al.  Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism , 2009, Human mutation.

[47]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[48]  F. Marín,et al.  TUBB1 Q43P polymorphism does not protect against acute coronary syndrome and premature myocardial infarction , 2008, Thrombosis and Haemostasis.

[49]  Edwin H. Cook,et al.  Copy-number variations associated with neuropsychiatric conditions , 2008, Nature.

[50]  Jing Cui,et al.  Common variants at CD40 and other loci confer risk of rheumatoid arthritis , 2008, Nature Genetics.

[51]  Burkhard Rost,et al.  SNAP predicts effect of mutations on protein function , 2008, Bioinform..

[52]  P. Pozzilli,et al.  The PTPN22 1858T gene variant in type 1 diabetes is associated with reduced residual beta-cell function and worse metabolic control. , 2008, Diabetes care.

[53]  G. Rutter,et al.  A Rare Mutation in ABCC8/SUR1 Leading to Altered ATP-Sensitive K+ Channel Activity and β-Cell Glucose Sensing Is Associated With Type 2 Diabetes in Adults , 2008, Diabetes.

[54]  D. Booth,et al.  Haplotypes of the interleukin 7 receptor alpha gene are correlated with altered expression in whole blood cells in multiple sclerosis , 2008, Genes and Immunity.

[55]  M. Silverberg,et al.  Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis , 2008, Mucosal Immunology.

[56]  B. Browning,et al.  Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. , 2007, American journal of human genetics.

[57]  C. Sander,et al.  Determinants of protein function revealed by combinatorial entropy optimization , 2007, Genome Biology.

[58]  L. Liang,et al.  A genome-wide association study of global gene expression , 2007, Nature Genetics.

[59]  Silke Schmidt,et al.  Interleukin 7 receptor α chain ( IL7R ) shows allelic and functional association with multiple sclerosis , 2007, Nature Genetics.

[60]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[61]  P. Donnelly,et al.  A new multipoint method for genome-wide association studies by imputation of genotypes , 2007, Nature Genetics.

[62]  T. Wilhelm,et al.  Constitutive upregulation of the transforming growth factor-β pathway in rheumatoid arthritis synovial fibroblasts , 2007, Arthritis research & therapy.

[63]  Simon C. Potter,et al.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.

[64]  T. Frayling,et al.  Insights on pathogenesis of type 2 diabetes from MODY genetics , 2007, Current diabetes reports.

[65]  Shamil R Sunyaev,et al.  Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. , 2007, American journal of human genetics.

[66]  J. Montaner,et al.  The association of the beta1-tubulin Q43P polymorphism with intracerebral hemorrhage in men. , 2007, Haematologica.

[67]  J. Korzenik Is Crohn’s disease due to defective immunity? , 2006, Gut.

[68]  S. Henikoff,et al.  Predicting the effects of amino acid substitutions on protein function. , 2006, Annual review of genomics and human genetics.

[69]  J. Moult,et al.  Identification and analysis of deleterious human SNPs. , 2006, Journal of molecular biology.

[70]  Á. Carracedo,et al.  Mutation spectra of ABCC8 gene in Spanish patients with hyperinsulinism of infancy (HI) , 2006, Human mutation.

[71]  Terrence S. Furey,et al.  The UCSC Genome Browser Database: update 2006 , 2005, Nucleic Acids Res..

[72]  T. K. van den Berg,et al.  Signal Regulatory Proteins in the Immune System , 2005, The Journal of Immunology.

[73]  J. Moult,et al.  Loss of protein structure stability as a major causative factor in monogenic disease. , 2005, Journal of molecular biology.

[74]  Arlin Stoltzfus,et al.  The Exchangeability of Amino Acids in Proteins , 2005, Genetics.

[75]  Wendy Thomson,et al.  Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. , 2005, Arthritis and rheumatism.

[76]  M. Fichera,et al.  Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia , 2004, Neurology.

[77]  S. Batalov,et al.  A gene atlas of the mouse and human protein-encoding transcriptomes. , 2004, Proceedings of the National Academy of Sciences of the United States of America.

[78]  C. Carpenter Btk-dependent regulation of phosphoinositide synthesis. , 2004, Biochemical Society transactions.

[79]  J. S. Sodhi,et al.  Prediction and functional analysis of native disorder in proteins from the three kingdoms of life. , 2004, Journal of molecular biology.

[80]  Nunzio Bottini,et al.  A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes , 2004, Nature Genetics.

[81]  S. Foster,et al.  Host Recognition of Bacterial Muramyl Dipeptide Mediated through NOD2 , 2003, The Journal of Biological Chemistry.

[82]  J. Rapp,et al.  Two blood pressure/cardiac mass quantitative trait loci on Chromosome 3 in Dahl rats , 1999, Mammalian Genome.

[83]  Hiroyuki Ogata,et al.  KEGG: Kyoto Encyclopedia of Genes and Genomes , 1999, Nucleic Acids Res..