TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits

Two Functional Lupus-Associated BLK Promoter Variants Control Cell-Type- and Developmental-Stage-Specific Transcription

(2014) Joel M. Guthridge et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MHC associations with clinical and autoantibody manifestations in European SLE

(2014) D L Morris et al.   GENES AND IMMUNITY

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

(2014) Jason Flannick et al.   NATURE GENETICS

Lessons learned from the fate of AstraZeneca's drug pipeline: a five-dimensional framework

(2014) David Cook et al.   NATURE REVIEWS DRUG DISCOVERY

EMerging BiomARKers in Inflammatory Bowel Disease (EMBARK) Study Identifies Fecal Calprotectin, Serum MMP9 and Serum IL-22 as a Novel Combination of Biomarkers for Crohn's Disease Activity: Role of Cross-Sectional Imaging

(2013) William A Faubion et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Beyond GWASs: Illuminating the Dark Road from Association to Function

(2013) Stacey L. Edwards et al.   AMERICAN JOURNAL OF HUMAN 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

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

(2013) Laura R. Pearce et al.   CELL

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

(2013) Marylyn D. Ritchie et al.   CIRCULATION

Genome-wide association studies to advance our understanding of critical cell types and pathways in rheumatoid arthritis

(2013) Dorothée Diogo et al.   CURRENT OPINION IN RHEUMATOLOGY

A PheWAS approach in studying HLA-DRB1*1501

(2013) S J Hebbring et al.   GENES AND IMMUNITY

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects

(2013) Khader Shameer et al.   HUMAN GENETICS

The challenges, advantages and future of phenome-wide association studies

(2013) Scott J. Hebbring   IMMUNOLOGY

Haplotype-Tagging Analysis of Common Variants of the IL23R Gene Demonstrates Gene-wide Extent of Association with IBD

(2013) Johan Van Limbergen et al.   INFLAMMATORY BOWEL DISEASES

Two Rare Disease-Associated Tyk2 Variants Are Catalytically Impaired but Signaling Competent

(2013) Z. Li et al.   JOURNAL OF IMMUNOLOGY

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

(2013) Carlos Cruchaga et al.   NATURE

Pfizer's first-in-class JAK inhibitor pricey for rheumatoid arthritis market

(2013) Ken Garber   NATURE BIOTECHNOLOGY

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

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

(2013) Johanna M Seddon et al.   NATURE GENETICS

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

Genetic insights into common pathways and complex relationships among immune-mediated diseases

(2013) Miles Parkes et al.   NATURE REVIEWS GENETICS

Pleiotropy in complex traits: challenges and strategies

(2013) Nadia Solovieff et al.   NATURE REVIEWS GENETICS

Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis

(2013) Mélissa Beaudoin et al.   PLoS Genetics

Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis

(2012) Catherine T. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

JAK and STAT Signaling Molecules in Immunoregulation and Immune-Mediated Disease

(2012) John J. O'Shea et al.   IMMUNITY

Trends in Lipids and Lipoproteins in US Adults, 1988-2010

(2012) Margaret D. Carroll et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

(2012) Sara S. Kilic et al.   JOURNAL OF PEDIATRICS

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

(2012)   LANCET

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Use of genome-wide association studies for drug repositioning

(2012) Philippe Sanseau et al.   NATURE BIOTECHNOLOGY

CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation

(2012) Nataly Manjarrez-Orduño et al.   NATURE GENETICS

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

(2012) Steve Eyre et al.   NATURE GENETICS

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

(2012) Lam C Tsoi et al.   NATURE GENETICS

Enabling structure-based drug design of Tyk2 through co-crystallization with a stabilizing aminoindazole inhibitor

(2012) Maria A Argiriadi et al.   BMC STRUCTURAL BIOLOGY

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records

(2011) Fina Kurreeman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The comparative risk of serious infections among rheumatoid arthritis patients starting or switching biological agents

(2011) J. R. Curtis et al.   ANNALS OF THE RHEUMATIC DISEASES

A phase IIb dose-ranging study of the oral JAK inhibitor tofacitinib (CP-690,550) versus placebo in combination with background methotrexate in patients with active rheumatoid arthritis and an inadequate response to methotrexate alone

(2011) Joel M. Kremer et al.   ARTHRITIS AND RHEUMATISM

Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility

(2011) N. Couturier et al.   BRAIN

Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia

(2011) Christopher T. Johansen et al.   Circulation-Cardiovascular Genetics

Tyrosine kinase 2 (TYK2) in cytokine signalling and host immunity

(2011) Birgit Strobl   Frontiers in Bioscience-Landmark

Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network

(2011) David R. Crosslin et al.   HUMAN GENETICS

Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study

(2011) Abel N Kho et al.   JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION

Pfizer's JAK inhibitor sails through phase 3 in rheumatoid arthritis

(2011) Ken Garber   NATURE BIOTECHNOLOGY

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

The Pathogenesis of Rheumatoid Arthritis

(2011) Iain B. McInnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiple Loci Are Associated with White Blood Cell Phenotypes

(2011) Michael A. Nalls et al.   PLoS Genetics

Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus

(2011) Deborah S. Cunninghame Graham et al.   PLoS Genetics

Pooled Association Tests for Rare Variants in Exon-Resequencing Studies

(2010) Alkes L. Price et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease

(2010) Dawn M. Waterworth et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Genome-wide association study of genetic predictors of anti-tumor necrosis factor treatment efficacy in rheumatoid arthritis identifies associations with polymorphisms at seven loci

(2010) Darren Plant et al.   ARTHRITIS AND RHEUMATISM

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

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

Clinical value of blocking IL-6 receptor

(2010) Toru Mima et al.   CURRENT OPINION IN RHEUMATOLOGY

Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

(2010) Yukihide Momozawa 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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Associations of disease activity and treatments with mortality in men with rheumatoid arthritis: results from the VARA registry

(2010) T. R. Mikuls et al.   RHEUMATOLOGY

Electronic medical records for discovery research in rheumatoid arthritis

(2010) Katherine P. Liao et al.   ARTHRITIS CARE & RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

(2009) Inger-Lise Mero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Evidence for Genetic Association and Interaction Between the TYK2 and IRF5 Genes in Systemic Lupus Erythematosus

(2009) A. HELLQUIST et al.   JOURNAL OF RHEUMATOLOGY

Longitudinal expression of type I interferon responsive genes in systemic lupus erythematosus

(2009) M Petri et al.   LUPUS

The imprinted DLK1-MEG3 gene region on chromosome 14q32.2 alters susceptibility to type 1 diabetes

(2009) Chris Wallace et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic

(2009) Bo Eskerod Madsen et al.   PLoS Genetics

Development of a Large-Scale De-Identified DNA Biobank to Enable Personalized Medicine

(2008) DM Roden et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Administrative codes combined with medical records based criteria accurately identified bacterial infections among rheumatoid arthritis patients

(2008) Nivedita M. Patkar et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

(2008) Yurii S Aulchenko et al.   NATURE GENETICS