Betty Marije Tijms

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 identifies two epigenomic subtypes of late-onset Alzheimer's disease with distinct microglial and neuronal methylation signatures, linking them to different inflammatory and functional pathways.

This study identifies 118 new genetic loci associated with Alzheimer's disease across diverse ancestries and discovers 48 novel risk loci, including those enriched in neuronal cell types.

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

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

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 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 shows that multimodal multilayer network centrality in the frontoparietal network is positively associated with executive functioning, outperforming unilayer centrality.

The paper conducts GWAS on CSF Alzheimer's disease biomarkers, identifying genetic associations with NF-L, YKL-40, and Ng levels.

The paper conducts a genome-wide association study (GWAS) on Alzheimer’s disease CSF biomarkers in the EMIF-AD dataset, identifying novel genetic signals and confirming existing associations.