Sven J. van der Lee

The paper uses long-read sequencing to uncover structural complexity in Alzheimer's disease GWAS loci, showing that lead SNPs often miss key regulatory variants.

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

The paper examines TMEM106B haplotypes and their associations with tau and TDP-43 pathologies in aging brains using integrated multi-omics data.

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

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.

MotifScope identifies and visualizes tandem repeats in population context using a de novo k-mer approach, outperforming existing tools in motif discovery and representation.

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 introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.

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

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

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.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

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.

snpXplorer is a web tool that explores SNP associations, annotates SNP sets, and compares GWAS results across traits.

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

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.