Oriol Dols‐Icardo

This study performs APOE-stratified GWAS to uncover genetic mechanisms underlying Alzheimer's disease risk and response to therapies.

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

This study combines GWAS of amyloid endophenotypes with proteomic analysis to identify genes and proteins associated with amyloid burden and its biological pathways.

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

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

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

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.

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.

The paper characterizes transcriptional changes in ALS motor cortex, identifying microglial activation and synapse-related pathway alterations as key features.

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

This study conducts a GWAS of Parkinson disease in Spain, identifies a novel population-specific signal at PARK2 associated with age-at-onset, and highlights genetic substructure for future fine-mapping.

The paper replicates and extends findings on circRNA expression in Alzheimer's disease, showing consistent upregulation and downregulation patterns and altered expression in related neurodegenerative conditions.

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.