Steven J Lubbe

The paper introduces the NeuroBooster Array, a genome-wide genotyping platform designed to study neurological disorders across diverse populations by capturing genetic variation and enabling imputation of disease-related variants.

SeqVerify is a computational pipeline that analyzes whole genome sequencing data to verify gene editing outcomes and detect abnormalities in cell lines.

This study identifies 34 genome-wide significant short-tandem repeat (STR) loci associated with Parkinson's disease risk and shows their functional impact on gene expression and disease pathways.

The paper identifies and replicates epistatic variant-variant interactions in Parkinson's disease across genetically diverse populations using a new pipeline called VARI3.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

This study investigates the risk of Parkinson's disease associated with monoallelic PARK2 mutations, finding increased risk but highlighting confounding factors from biallelic mutations.

The paper assesses the association of NUS1 variants with Parkinson's Disease in European descent cohorts and finds no evidence of a link, suggesting previous findings may be due to population-specific variants.

The paper analyzes whole-exome data from Parkinson's disease cases and controls to show a higher burden of ultra-rare variants in early-onset cases compared to late-onset cases.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.