John Hardy

The paper identifies novel SNCA transcripts in human dopaminergic neurons and demonstrates their impact on antisense oligonucleotide therapy for Parkinson's disease.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

This study investigates how metabolite supplementation affects metabolic and functional deficits in TREM2-mutant human iPSC-derived microglia, identifying distinct effects of citrate and succinate on mitochondrial function and phagocytosis.

The paper examines gene expression changes in microglia from LRRK2-WT and G2019S knock-in mice treated with zymosan and MLi-2, identifying differential expression patterns and potential PD-related pathways.

Intronic GBA1 variant rs3115534-G, common in African and African admixed ancestry but rare elsewhere, raises Parkinson's disease risk (OR 1.58) and lowers onset age.

The paper visualises molecular QTLs to better understand genetic effects on gene expression and identifies causal genes at GWAS loci.

This paper identifies three novel genetic variants associated with levodopa-induced dyskinesia in Parkinson's disease and confirms associations with ANKK1 and BDNF, while also finding gender, age at onset, and anxiety as risk factors.

This study identifies genetic variants associated with motor progression in Parkinson's disease using GWAS and functional analysis.

The paper examines MAPT haplotype frequencies in Nigerian Africans and finds no association between the H1 haplotype and Parkinson's disease risk or age at onset.

The paper identifies local genetic correlations between neurodegenerative and neuropsychiatric diseases using LAVA, revealing shared genomic regions and potential therapeutic targets.

This paper estimates SNP-based heritability of Alzheimer's disease across five cohorts, showing it ranges from 38-66%, with microglia genes explaining most of the heritability.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This study identifies APOE-ε4 and LRP1B as genetic risk factors for Parkinson's disease dementia using genome-wide survival analysis in 3,964 PD cases.

The paper identifies KAT8 and KANSL1 as regulators of PINK1-mitophagy linked to Parkinson's disease risk, suggesting a novel pathway for therapeutic targeting.

This study identifies 3,154 high-confidence structural variants in Parkinson's disease using short-read sequencing and validates some with long-read data, highlighting limitations of short-read methods.

The paper shows that a significant portion of gene expression regulation in the human brain occurs post-transcriptionally in the cytoplasm, particularly for synaptic genes.

Microglia selectively engulf synapses in Alzheimer-like mouse brains via PtdSer-TREM2 signaling.

This paper develops an automated ML model to predict Parkinson's Disease using multi-modal data, achieving high AUC scores and constructing gene networks relevant to PD.

The paper shows that Trem2 gene expression in microglia is upregulated only when they contact plaques, and this effect is reduced by the Trem2R47H mutation.

The paper examines how TREM2 variants affect microglial exosomal proteomes and their functional impact on neurons.

This study uses transcriptomic profiling to identify common and distinct molecular features across Lewy Body diseases, highlighting RNA splicing dysregulation and potential therapeutic targets.

PhenoExam is an R package and web tool that performs phenotype and disease enrichment analysis on gene sets, detecting significant phenotypic similarities and differences across databases.

The paper shows that the R47H TREM2 variant impairs microglial signaling and inflammasome activation, potentially contributing to Alzheimer's disease progression.

The paper identifies 38 genes regulating a-synuclein cell-to-cell transfer using an siRNA screen and shows genetic overlap with Parkinson's disease.

This study uses protein-protein interaction networks and machine learning to stratify Hereditary Spastic Paraplegias based on molecular mechanisms and clinical presentations.

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

The paper introduces GMSCA, a tool to enhance gene multifunctionality predictions in bulk-tissue co-expression networks, revealing new roles for genes like SNCA in oligodendrocytes.