Agustı́n Ruiz

The paper investigates neuropsychiatric effects of neurodevelopmental copy number variants (ND-CNVs) in the All of Us biobank, finding distributed, pleiotropic risk across multiple domains.

The paper identifies a frontal lobe cortical thickness pattern in amyloid-negative individuals that predicts faster amyloid accumulation over five years.

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 shows that gut microbiota mediates the effect of APOE ε4 genotype on amyloid-β accumulation in middle-aged adults.

The paper screens FDA-approved drugs to identify modulators of the TREM2-TYROBP transmembrane interaction, finding varenicline as a potential agonist.

The paper uses long-read sequencing to identify and characterize APOE haplotypes in a Spanish cohort, finding associations between specific haplotypes and reduced risk of Alzheimer's disease progression.

The paper investigates the association between Alzheimer's disease SNPs and hippocampal sclerosis of aging using MRI surrogates in a cohort of non-demented individuals.

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 identifies a specific APOE transcript and functional SNP associated with Alzheimer's disease using integrated genomic data from human postmortem brains.

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 identifies four novel genetic loci associated with soluble TREM2 levels in CSF through GWAS and provides functional validation of their roles in Alzheimer's disease.

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 conducts the first GWAS on Alzheimer's disease in South American populations, identifying shared genetic risk factors with European populations.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

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 a new susceptibility locus for severe COVID-19 through a detailed GWAS analysis in European populations, focusing on genetic variants associated with disease severity.

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

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.

The paper performs a genome-wide association study of dementia and its endophenotypes, identifying novel loci and causal networks related to Alzheimer's disease.

Genetic correlations across 25 brain disorders (215,683 cases) reveal broad psychiatric common-variant sharing, largely distinct neurological disorders, and migraine as the only significant cross-category link.

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.