Paul J. Hop

Kinase-dead controls, XIC quantification and phosphospecific antibodies establish pSer14, pThr156 and pSer418 as NEK1 autophosphorylation sites; a pThr156 assay shows ALS missense variants differ, with R261C reducing it most.

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.

SpliPath identifies pathogenic splice-altering variants in ALS by integrating SpliceAI predictions with transcriptomics data, revealing hidden heritability in rare variant disorders.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

The paper identifies 818 genes influencing DNA methylation in blood using genetic anchors and causal inference, revealing both transcription factors and non-DNA-binding proteins with regulatory roles.

The paper identifies 49 gene drivers of downstream transcriptional changes using population genomics data and RNA-sequencing from 3,072 individuals.