Itziar de Rojas

Landscape of copy number variants in Spanish People with Dementia

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.

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

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

Long-read sequencing reveals two common APOE ϵ3 and ϵ4 intragenic haplotypes in the Spanish population

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.

Genetic dissection of hippocampal sclerosis of ageing using magnetic resonance imaging surrogates

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.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

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

Connecting genomic and proteomic signatures of amyloid burden in the brain

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

Identification of a specific APOE transcript and functional elements associated with Alzheimer's disease

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

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

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.

Genetic Testing in patients with Dementia: A Data-Driven Clinical Decision Tree for Memory Clinics

This paper introduces a decision tree to improve the identification of dementia patients with pathogenic genetic variants by optimizing clinical selection criteria for genetic testing.

What does heritability of Alzheimer's disease represent?

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.

First GWAS on Alzheimer's Disease in Argentina and Chile populations

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

Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies

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.

Mendelian randomization confirms the role of Y-chromosome loss in Alzheimer's Disease etiopathogenesis in males

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.

Autosomal Recessive Alzheimer disease (arAD): homozygosity mapping of genomic regions containing arAD loci

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

Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores

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.

Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer disease and three causality networks of AD: the GR@ACE project.

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

Genome Wide Meta-Analysis identifies new loci associated with cardiac phenotypes and uncovers a common genetic signature shared by heart function and Alzheimer’s disease