Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis

R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment

(2014) Robert J. Carroll et al.   BIOINFORMATICS

Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease

(2014) Leah C Kottyan et al.   NATURE GENETICS

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence

(2014) Beate St Pourcain et al.   Molecular Autism

Imputation and quality control steps for combining multiple genome-wide datasets

(2014) Shefali S. Verma et al.   Frontiers in Genetics

Association between low density lipoprotein and rheumatoid arthritis genetic factors with low density lipoprotein levels in rheumatoid arthritis and non-rheumatoid arthritis controls

(2013) Katherine P Liao et al.   ANNALS OF THE RHEUMATIC DISEASES

Defining the contribution of SNPs identified in asthma GWAS to clinical variables in asthmatic children

(2013) Asif S Tulah et al.   BMC Medical Genetics

Ndfip1 Is Required for the Development of Pyramidal Neuron Dendrites and Spines in the Neocortex

(2013) Vicki E. Hammond et al.   CEREBRAL CORTEX

Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk

(2013) Marylyn D. Ritchie et al.   CIRCULATION

IL-33 Markedly Activates Murine Eosinophils by an NF- B-Dependent Mechanism Differentially Dependent upon an IL-4-Driven Autoinflammatory Loop

(2013) C. Bouffi et al.   JOURNAL OF IMMUNOLOGY

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

(2013) Joshua C Denny et al.   NATURE BIOTECHNOLOGY

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

(2013) Sonja I Berndt et al.   NATURE GENETICS

Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis

(2013) Anne Hinks et al.   NATURE GENETICS

A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci

(2013) David A Hinds et al.   NATURE GENETICS

Phenome-Wide Association Studies on a Quantitative Trait: Application to TPMT Enzyme Activity and Thiopurine Therapy in Pharmacogenomics

(2013) Antoine Neuraz et al.   PLoS Computational Biology

Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network

(2013) Sarah A. Pendergrass et al.   PLoS Genetics

EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children

(2013) Bahram Namjou et al.   Frontiers in Genetics

Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13

(2012) Susan D. Thompson et al.   ARTHRITIS AND RHEUMATISM

Association of Neurexin 3 polymorphisms with smoking behavior

(2012) E. Docampo et al.   GENES BRAIN AND BEHAVIOR

Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies

(2011) Joshua C. Denny et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Susceptibility influence of a PTPN22 haplotype with thyroid autoimmunity in Koreans

(2011) Hye-Soon Lee et al.   DIABETES-METABOLISM RESEARCH AND REVIEWS

Associations among types of impulsivity, substance use problems and Neurexin-3 polymorphisms

(2011) Scott F. Stoltenberg et al.   DRUG AND ALCOHOL DEPENDENCE

The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery

(2011) S.A. Pendergrass et al.   GENETIC EPIDEMIOLOGY

A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study

(2011) Mark Granada et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human metabolic individuality in biomedical and pharmaceutical research

(2011) Karsten Suhre et al.   NATURE

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

(2011) George F Mells et al.   NATURE GENETICS

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

(2011) Lavinia Paternoster et al.   NATURE GENETICS

Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

(2011) Carole Ober et al.   NATURE GENETICS

Genotype Imputation with Thousands of Genomes

(2011) Bryan Howie et al.   G3-Genes Genomes Genetics

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci

(2010)   GENES AND IMMUNITY

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Interleukin-23 receptor genetic polymorphisms and Crohn’s disease susceptibility: a meta-analysis

(2010) Yi Li et al.   INFLAMMATION RESEARCH

The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population

(2010) Hiroshi Onuma et al.   JOURNAL OF HUMAN GENETICS

Common variants at 5q22 associate with pediatric eosinophilic esophagitis

(2010) Marc E Rothenberg et al.   NATURE GENETICS

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

(2010) Andre Franke et al.   NATURE GENETICS

Adoption of Body Mass Index Guidelines for Screening and Counseling In Pediatric Practice

(2010) J. D. Klein et al.   PEDIATRICS

Association of rs780094 in GCKR with Metabolic Traits and Incident Diabetes and Cardiovascular Disease: The ARIC Study

(2010) Mark Bi et al.   PLoS One

Allele-Specific Chromatin Remodeling in the ZPBP2/GSDMB/ORMDL3 Locus Associated with the Risk of Asthma and Autoimmune Disease

(2009) Dominique J. Verlaan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups

(2009) Bahram Namjou et al.   ARTHRITIS AND RHEUMATISM

SLC22A4 and SLC22A5 gene polymorphisms and Crohn's disease in the Chinese Han population

(2009) Yun FENG et al.   Journal of Digestive Diseases

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes

(2009) Jeffrey C Barrett et al.   NATURE GENETICS

Genetic deficiency and pharmacological stabilization of mast cells reduce diet-induced obesity and diabetes in mice

(2009) Jian Liu et al.   NATURE MEDICINE

Interleukin 13, CD14, pet and tobacco smoke influence atopy in three Dutch cohorts: the allergenic study

(2008) R. W. B. Bottema et al.   EUROPEAN RESPIRATORY JOURNAL

Expression and adhesion profiles of SynCAM molecules indicate distinct neuronal functions

(2008) Lisa A. Thomas et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Newly identified genetic risk variants for celiac disease related to the immune response

(2008) Karen A Hunt et al.   NATURE GENETICS

Identification of PLCL1 Gene for Hip Bone Size Variation in Females in a Genome-Wide Association Study

(2008) Yao-Zhong Liu et al.   PLoS One