Mónica Díez-Fairén

The paper analyzes copy number variants in a Spanish dementia cohort and identifies potential novel genes associated with ADRD but finds no genome-wide significant associations.

This paper performs a large meta-analysis of GWAS in dementia with Lewy bodies, identifying sex-specific genetic risk signals and highlighting the need for larger cohorts.

This study uses Mendelian randomization to show that genetic risk for mosaic loss of chromosome Y (mLOY) increases AD risk in males, but not females, suggesting mLOY directly contributes to AD pathogenesis.

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 evaluates LIN28A variants in Parkinson's disease using genotyping and sequencing data, finding no strong evidence for a major causal role but suggesting further research in non-European populations is needed.

This study investigates the genetic and transcriptomic link between KTN1 and Parkinson's disease using GWAS, eQTL, and transcriptomics data, finding no genetic associations but potential expression differences.

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

The paper presents a GWAS locus browser for Parkinson's disease that helps prioritize genes associated with risk variants from multiple GWAS studies.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

The paper identifies pathway-specific polygenic risk factors and transcriptomic networks associated with Parkinson disease using large-scale genetic and expression data.

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 paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

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.

This study estimates heritability and genetic correlations for essential tremor using genome-wide data, finding high heritability and no significant genetic overlap with Parkinson's disease or restless legs syndrome.

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.

This study estimates the heritability of dementia with Lewy bodies (DLB) and finds it to be higher than previous estimates, with low variance explained by polygenic risk scores from Parkinson's or Alzheimer's disease.