Yolande A.L. Pijnenburg

The paper develops a DNA methylation predictor for C9orf72 repeat expansion carriers using EPICv2 data, achieving 98.6% accuracy and identifying four carriers in an independent cohort.

This study constructs a polygenic protective score for Alzheimer's disease and finds stronger genetic protection against AD in centenarians compared to non-longevity individuals.

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

The paper identifies six HLA alleles associated with reduced likelihood of becoming a cognitively healthy centenarian, revealing pleiotropic effects on disease susceptibility and longevity.

This study examines whether TREM2 risk variants in Alzheimer's disease patients lead to distinct clinical phenotypes, finding no baseline differences but faster cognitive decline in carriers.

This study maps quantitative trait loci for CSF metabolites and identifies associations with brain traits, revealing potential neurobiological pathways.

This study replicates and extends findings linking social dysfunction to reduced default mode network connectivity in schizophrenia, Alzheimer's disease, and major depressive disorder.

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

This paper introduces a decision tree to improve the identification of dementia patients with pathogenic genetic variants by optimizing clinical selection criteria for genetic testing.

The paper identifies an AluYb8 retrotransposon in a TMEM106B risk haplotype associated with neurodegeneration, linking it to age-related dysregulation and population-specific disease risk.

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.

This paper estimates SNP-based heritability of Alzheimer's disease across five cohorts, showing it ranges from 38-66%, with microglia genes explaining most of the heritability.

This study investigates the association between cerebellar and subcortical atrophy and neuropsychiatric symptoms in genetic frontotemporal dementia, finding significant differences across genetic mutations.

The paper identifies cognitive subgroups in Alzheimer's disease based on MRI-derived atrophy patterns and links them to specific biological pathways using transcriptomic data.

The paper identifies four latent atrophy factors in posterior cortical atrophy using Bayesian modeling, finding that most patients exhibit mixed profiles rather than distinct variants.

This study uses gene expression imputation to identify candidate genes and tissue-specific associations linked to frontotemporal dementia risk loci.