Christine Van Broeckhoven

This study shows that reduced progranulin leads to increased legumain activity, which promotes TDP-43 pathology in FTLD, suggesting legumain as a therapeutic target.

This study performs GWAS on quantitative AD biomarkers and cognitive traits, identifying new loci associated with memory performance and cognitive decline.

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.

This study uses iPSC-derived neuronal cultures with the TREM2 R47H variant to construct an Aβ-induced gene regulatory network, identifying ER-stress as a potential causal factor in LOAD.

This paper develops a method to accurately characterize expanded tandem repeats using long-read sequencing on PromethION, outperforming traditional methods and enabling clinical applications.

The paper benchmarks structural variant calling tools using Oxford Nanopore PromethION sequencing of the human genome, finding Minimap2 and Sniffles to be the most accurate and efficient.

NanoPack bundles Python3 tools (command line, GUI, web service) for QC plotting, summary statistics, read filtering and contaminant removal of Oxford Nanopore and PacBio long reads.