Inés Quintela

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.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

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.

Novel risk loci for COVID-19 hospitalization among admixed American populations

This study identifies novel genetic risk loci for COVID-19 hospitalization in admixed American populations through a large GWAS.

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.

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.

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.

Identification of blood autosomal cis-expression quantitative trait methylation (cis-eQTMs) in children

This paper identifies 39,749 autosomal cis-eQTMs in children's blood using HELIX data, showing most are near genes and many have genetic variants associated with methylation and expression.

Clonal chromosomal mosaicism and loss of chromosome Y in men are risk factors for SARS-CoV-2 vulnerability in the elderly

The paper identifies clonal chromosomal mosaicism and loss of chromosome Y as risk factors for severe SARS-CoV-2 outcomes in elderly males.

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.

Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula

The paper analyzes genome-wide data from Spanish individuals to reveal fine-scale genetic structure and historical population movements, including North African ancestry from the Muslim period.