John Budde

This study integrates parietal cortex transcriptomics with GWAS data to refine Parkinson's disease risk gene nominations and identify STAT3 as a potential upstream glial regulator.

LocusBlend blends linkage disequilibrium colors for up to three index variants in LocusZoom and LocusCompare plots, helping separate independent signals at complex Alzheimer's disease loci.

The paper maps cis- and trans-eQTLs in blood samples to infer gene regulatory networks and prioritize trait-relevant pathways.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

This study identifies increased circPSEN1 levels in ADAD brains compared to sporadic AD and controls, suggesting a potential role in neuroinflammatory processes.

This paper identifies seven genome-wide significant loci associated with early neurological instability after acute ischemic stroke, linking excitotoxic genes to poor outcomes.

This study identifies metabolomic and lipidomic signatures in Alzheimer's disease brains with different genetic risk factors and finds associations with disease subtypes and progression.

The paper uses GWAS, PRS, and MR to show a genetic link between Parkinson's disease and CSF Aβ42 and APOE locus.

The paper integrates genomic and proteomic data across multiple tissues to identify protein quantitative loci (pQTL) and their implications for neurodegenerative diseases.

This study identifies increased homozygosity in Alzheimer's disease cases and detects a candidate recessive variant associated with amyloid metabolism.

This study identifies a significant genetic correlation between Parkinson disease and melanoma, highlighting shared genes and pathways.

This study identifies genetic variants in the MS4A gene cluster associated with higher sTREM2 levels and reduced Alzheimer disease risk, suggesting MS4A4A regulates sTREM2 and contributes to AD pathogenesis.

This study uses single-nuclei RNA-seq to compare cell proportions and gene expression in Mendelian and sporadic AD brains, identifying reduced excitatory neurons in a Mendelian carrier and proposing best practices for analysis.

The paper identifies a genetic variant in TMEM106B associated with increased neuronal proportion in neurodegenerative and cognitive normal cohorts, suggesting a role in neuronal protection.

This study identifies how genetic risk variants for Alzheimer's disease affect cerebral cortex cell-type proportions in bulk RNA-seq data using digital deconvolution.

This study evaluates gene-based methods for family-based analyses of familial late-onset Alzheimer disease, identifying novel candidate genes.

The paper constructs polygenic risk scores for sporadic late-onset Alzheimer's Disease and finds shared genetic architecture with familial and early-onset forms, showing varying odds ratios across cohorts.

The paper develops a precise CRISPR/Cas9 genome-editing platform for human iPSCs, demonstrating improved editing efficiency and minimal off-target effects.

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.