Laura Donker Kaat

This study uses optical genome mapping to analyze C9orf72 repeat expansion instability in blood from ALS and FTD patients, finding age-dependent differences in repeat size dynamics between conditions.

The paper analyzes somatic mutations in neurons from FTLD-TDP type C patients and controls, finding extensive low-frequency variants in TARDBP and other genes.

The paper integrates genotype, clinical, and neuropathological data from 2,553 donors to show genetic risk overlaps across brain disorders and neuropsychiatric symptoms.

This study identifies novel plasma proteins associated with KIF5A-linked SPG10 and ALS using targeted proteomics, revealing distinct proteomic signatures and potential biomarkers.

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

The paper develops MethaDory, a framework to train and validate DNAm-based classifiers for rare diseases using synthetic data, achieving high accuracy across multiple platforms.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.