Cornelia M. van Duijn

Quantifying prion disease penetrance using large population control cohorts

Large genomic reference data sets reveal a spectrum of pathogenicity in the prion protein gene and provide genetic validation for a therapeutic strategy in prion disease.

Mild cognitive impairment – beyond controversies, towards a consensus: report of the International Working Group on Mild Cognitive Impairment

Abstract. The First Key Symposium was held in Stockholm, Sweden, 2–5 September 2003. The aim of the symposium was to integrate clinical and epidemiological perspectives on the t...

Circulating metabolites and general cognitive ability and dementia: Evidence from 11 cohort studies

Abstract Introduction Identifying circulating metabolites that are associated with cognition and dementia may improve our understanding of the pathogenesis of dementia and provi...

A reference panel of 64,976 haplotypes for genotype imputation

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Abstract Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (...

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation