Nikolaos A. Patsopoulos

This paper evaluates combining expression-based surrogate variables and genotype-based principal components in differential expression analysis, finding the combined approach improves replicability and biological recall in ALS datasets.

The paper analyzes gene expression differences in oligodendrocytes and OPCs from female and male progressive MS patients, identifying sex-specific up-regulated genes and mitochondrial pathways associated with neurodegenerative diseases.

The paper identifies glucocorticoid-responsive molecular defects in MS T cells through cell-type-specific transcriptomic profiling and validates potential therapeutic targets.

This study identifies CD4 T and B cells as driver cell subsets in multiple sclerosis using chromatin accessibility data and genetic fine-mapping.

The paper compares TDP-43's transcriptional and splicing effects in muscle and neuronal cells, showing tissue-specific roles in disease.

The paper identifies mQTL effects of MS susceptibility loci on DNA methylation in CD4+ T cells, revealing both cis and trans regulatory impacts.

This paper introduces a non-parametric polygenic risk prediction method using GWAS summary statistics, improving prediction accuracy for several diseases.

The paper uses unsupervised machine learning to identify three molecular subtypes in ALS cortex samples, associated with oxidative stress, retrotransposon activation, and glial activation.

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

This paper introduces a local joint testing method that improves power in genetic association studies and identifies missing heritability by addressing linkage masking.