Emilio Franco Macías

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

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.

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