Thomas P Spargo

The paper calculates the risk of developing rare neurodegenerative diseases following genetic screening, showing low risks for some variants and emphasizing the need for high sensitivity and specificity.

This study uses GWAS summary statistics to identify shared genetic loci across neuropsychiatric diseases and finds HLA region associations with potential shared causal variants.

This study analyzes genetic and clinical data from PLS patients to assess the role of genetic testing and identify potential disease-associated variants.

This study investigates the genetic relationship between depression symptoms and Alzheimer's disease using GWAS and finds significant genetic correlations but no causal link, suggesting proxy cases may drive the overlap.

This study uses molecular dynamics and clinical data to show structural and dynamic differences between WTL and MBR SOD1 variants, linking these to distinct ALS clinical outcomes.

This paper introduces a method to estimate penetrance for autosomal dominant traits using population data and family history, validated through simulations and case studies.

This study identifies NEFH tail domain mutations as risk factors for ALS through meta-analysis and variant burden analysis in case-control studies and whole-genome sequencing data.