Wiesje M. van der Flier

The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.

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.

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.

The paper identifies genetic variants associated with protein abundance and altered protein-protein correlations in the Gyrus Temporalis Medius in Alzheimer's Disease patients.

The paper identifies 11 novel genetic loci associated with Alzheimer's disease and hippocampal volume using cross-trait analysis and functional annotation.

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 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 examines how Alzheimer's disease-associated genetic variants influence longevity by analyzing their effects in centenarians and replicating findings in a parental-longevity GWAS.

The paper identifies immune response and endocytosis pathways as associated with resilience against Alzheimer's Disease using polygenic risk scores across multiple cohorts.

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.

The paper identifies a task-invariant cognitive reserve network by analyzing functional connectivity changes during cognitive tasks and their correlation with IQ.

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 paper finds that patient features differentially predict amyloid-β status based on PET or CSF, with variations by disease stage, suggesting PET and CSF discordance provides unique information.

This study uses data-driven clustering to identify spatial patterns of tau-PET distribution in Alzheimer’s disease and compares them to pathology-driven ROIs, finding two clusters with strong cognitive associations.

This study shows that using centenarians as extreme controls increases AD variant effect-sizes by two-fold, enabling replication in small samples.

This study identifies 9 novel genetic loci and 215 potential causative genes associated with Alzheimer's disease risk through a large genome-wide association analysis.