Wouter van Rheenen

The paper identifies seven sex-dependent differentially methylated positions in ALS blood samples, suggesting sex-specific biological mechanisms in the disease.

This paper develops a framework to reconstruct extended pedigrees for ALS patients with the C9orf72 repeat expansion, identifying novel familial relationships and shared genomic regions.

This study examines ZFHX3 GGC repeat expansions in ALS and finds no association with disease risk, but identifies diverse repeat motif compositions.

This study analyzes SMN2 DNA methylation in SMA patients and finds no association with disease severity or treatment response, but identifies age-related methylation changes.

The paper identifies sex-associated DNA methylation differences in ALS using a large-scale epigenome-wide association study and links them to survival outcomes.

The paper identifies sex-specific risk loci for ALS, including MEF2C, which is upregulated in female ALS motor neurons, and an X-chromosome locus at IL1RAPL2.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

The paper integrates brain RNA-seq and genotype data to identify eQTLs and their downstream effects on brain-related diseases.

The paper analyzes Dutch population structure using genome-wide data, identifying haplotypic clusters and showing that fine-grained haplotypic covariates reduce GWAS confounding.

The paper introduces a data browser for Project MinE, providing open-access whole-genome sequencing data from ALS patients and controls to support research without requiring advanced bioinformatics skills.

The paper uses genome-wide association studies to show human and pneumococcal genetic variation influences susceptibility and severity of pneumococcal meningitis.

This study identifies genetic variants and networks associated with ALS using GWAS data, revealing novel loci and functional sub-networks linked to disease.

Project MinE analyzes whole-genome sequencing data from ALS patients and controls to study genetic variation and its implications for disease susceptibility.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.