Area of research
Genetics · Rheumatology
Research interest
Research interests include Genetic Associations and Epidemiology, Genomics and Rare Diseases, Systemic Lupus Erythematosus Research, and Ocular Diseases and Behçet’s Syndrome.
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of <i>MUC5B</i> and <i>DSP</i> in Idiopathic Pulmonary Fibrosis
Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics
<i>ATXN1</i> repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public
Serum magnesium and calcium levels in relation to ischemic stroke
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Multivariate genome-wide analysis of stress-related quantitative phenotypes
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology
Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry
A comprehensive evaluation of the genetic architecture of sudden cardiac arrest
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis
Identification of an Amino Acid Motif in <scp>HLA</scp>–<scp>DR</scp>β1 That Distinguishes Uveitis in Patients With Juvenile Idiopathic Arthritis
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
Comprehensive pathway analyses of schizophrenia risk loci point to dysfunctional postsynaptic signaling
Common Coding Variants in <i>SCN10A</i> Are Associated With the Nav1.8 Late Current and Cardiac Conduction
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
<i>COL4A2</i> is associated with lacunar ischemic stroke and deep ICH
Reconsidering the causality of TIA1 mutations in ALS
Evaluating the Impact of Functional Genetic Variation on HIV-1 Control
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
Genetic variation at 16q24.2 is associated with small vessel stroke
Resetting the bar: Statistical significance in whole‐genome sequencing‐based association studies of global populations
Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis
Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization