• Publications
  • Influence
Systematic identification of trans eQTLs as putative drivers of known disease associations
Identifying the downstream effects of disease-associated SNPs is challenging. To help overcome this problem, we performed expression quantitative trait locus (eQTL) meta-analysis in non-transformedExpand
  • 1,361
  • 35
  • PDF
Clinical diagnosis and management of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that results in progressive loss of bulbar and limb function. Patients typically die from respiratory failure within 3 years ofExpand
  • 419
  • 27
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Disease onset and progression are variable, with survival ranging from months to decades. FactorsExpand
  • 239
  • 17
  • PDF
Multifocal motor neuropathy: diagnosis, pathogenesis and treatment strategies
Multifocal motor neuropathy (MMN) is a rare inflammatory neuropathy characterized by slowly progressive, asymmetric distal limb weakness without sensory loss. The clinical presentation of MMN mayExpand
  • 120
  • 16
Susceptibility loci for intracranial aneurysm in European and Japanese populations
Stroke is the world's third leading cause of death. One cause of stroke, intracranial aneurysm, affects ∼2% of the population and accounts for 500,000 hemorrhagic strokes annually in mid-life (medianExpand
  • 248
  • 14
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Whole-genome sequencing enables complete characterization of genetic variation, but geographic clustering of rare alleles demands many diverse populations be studied. Here we describe the Genome ofExpand
  • 579
  • 13
  • PDF
Population genetic differentiation of height and body mass index across Europe
Across-nation differences in the mean values for complex traits are common, but the reasons for these differences are unknown. Here we find that many independent loci contribute to population geneticExpand
  • 194
  • 13
  • PDF
Gene discovery in amyotrophic lateral sclerosis: implications for clinical management
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting upper and lower motor neurons. The disease leads to relentlessly progressive weakness of voluntary muscles,Expand
  • 135
  • 12
Sexual differences in onset of disease and response to exercise in a transgenic model of ALS
Transgenic mice that overexpress the mutant human SOD1 gene (hSOD1) serve as an animal model for amyotrophic lateral sclerosis (ALS). Age and sex are recognized as risk factors for ALS, but physicalExpand
  • 201
  • 10
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 in aExpand
  • 307
  • 9