Cornelia M. van Duijn

Neuroanatomically Derived Genetic Representations Enhance Detection of Plasma Protein Associations

This study uses brain-genotype scores to identify genetic associations with plasma proteins, finding 116 significant associations after FDR correction that conventional SNP models miss.

Genomics link obesity and type 2 diabetes to Alzheimers disease to unveil novel biological insights

This study links obesity and type 2 diabetes to Alzheimer's disease through genetic and transcriptomic analyses, identifying shared pathways and potential drug targets.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

Genetic mechanisms of 184 neuro-related proteins in human plasma

The paper identifies genetic regulators of 184 neuro-related proteins in human plasma and links them to disease traits and drug targets.

Phenotype prediction using biologically interpretable neural networks on multi-cohort multi-omics data

The paper develops interpretable neural networks for multi-omics data to predict smoking status, age, and LDL levels, showing improved performance and generalizability across cohorts.

Genome wide association study of clinical duration and age at onset of sporadic CJD

This study identifies genetic variants associated with clinical duration in sporadic CJD but finds no significant SNPs for age at onset.

Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma

Complexities of cerebral small vessel disease, blood pressure, and dementia relationship: new insights from genetics

This paper uses genetic data to investigate the causal relationships between vascular traits like white matter hyperintensity, blood pressure, and stroke with dementia and Alzheimer's disease risk.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

The impact of Short Tandem Repeats on grey matter brain imaging derived phenotypes in UK Biobank

This study identifies 262 STRs significantly associated with MRI-derived grey matter volumes in UK Biobank participants, with 12 associations replicated and no nearby SNPs in linkage disequilibrium.

Genome-wide characterization of circulating metabolic biomarkers reveals substantial pleiotropy and novel disease pathways

This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.

Genome Wide Association Metanalysis Of Skull Bone Mineral Density Identifies Loci Relevant For Osteoporosis And Craniosynostosis

This study identifies 59 genome-wide significant loci for skull bone mineral density, including four novel loci, and links them to osteoporosis and craniofacial developmental defects.

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank Optical Coherence Tomography images

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

This study performs a GWAS on random glucose measurements in 493,036 individuals, identifying 128 loci associated with glycaemic traits and providing insights into diabetes biology and treatment.

Genome-Wide Meta-Analysis of Late-Onset Alzheimer's Disease Using Rare Variant Imputation in 324,809 Subjects Identifies Novel Rare Variant Locus NCK2: The International Genomics of Alzheimer's Project (IGAP)

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

Large-scale association analyses identify host factors influencing human gut microbiome composition

The paper identifies 31 host genetic loci influencing gut microbiome composition through GWAS and suggests causal effects in inflammatory diseases.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference

The paper identifies 818 genes influencing DNA methylation in blood using genetic anchors and causal inference, revealing both transcription factors and non-DNA-binding proteins with regulatory roles.

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

The genomic architecture of blood metabolites based on a decade of genome-wide analyses

This study estimates heritability and genetic contributions to metabolite levels using genome-wide data and twin-family cohorts, revealing class-specific genetic influences.

Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness

This study identifies 12 genetic loci associated with loneliness and finds genetic correlations with 34 health outcomes, including cardiovascular and psychiatric disorders.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities

This study identifies genetic loci specific to periventricular and deep white matter hyperintensities, revealing distinct genetic architectures and potential biological mechanisms.

Novel DNA methylation sites of glucose and insulin homeostasis: an integrative cross-omics analysis

This study identifies nine novel DNA methylation sites associated with fasting glucose and insulin levels by integrating cross-omics data from multiple cohorts.

methylSCOPA and META-methylSCOPA: software for the analysis and aggregation of epigenome-wide association studies of multiple correlated phenotypes

The paper introduces methylSCOPA and META-methylSCOPA software for multi-phenotype epigenome-wide association studies, identifying significant methylation sites associated with fasting glucose and insulin levels.

Effect of inbreeding on type 2 diabetes-related metabolites in a Dutch genetic isolate

This study examines how inbreeding affects type 2 diabetes-related metabolites in a Dutch genetic isolate, finding that inbreeding influences 32.9% of T2DM-related metabolites independently of BMI.

Recessive genetic effects on type 2 diabetes-related metabolites in a consanguineous population

The paper identifies recessive genetic variants associated with type 2 diabetes-related metabolites in a consanguineous population.