Ángel Carracedo

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

This study expands CIRdb with whole-exome sequencing data from 920 Canary Islanders, identifying 387,555 variants, including 15.1% previously unreported and 74.4% rare.

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 identifies cell type-specific DNA methylation associations with childhood ADHD symptoms using deconvolution and sequencing-based methylation data from peripheral and cord blood.

This study identifies a genome-wide significant variant associated with sepsis-associated ARDS risk, linking cholesterol metabolism to ARDS susceptibility.

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

The paper identifies recurrent mutations in the RNU2-2P gene, which encodes U2 snRNA, as a cause of a severe neurodevelopmental disorder with prominent epilepsy.

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 calculates polygenic risk scores for idiopathic pulmonary fibrosis (IPF) and finds they are associated with increased risk of severe COVID-19 outcomes, particularly in younger males.

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 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.

The paper investigates the impact of genetic structure and ancestry on colorectal cancer risk in Colombian admixed populations using 20 known risk SNPs.

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 paper conducts a genome-wide association study (GWAS) to identify genetic variants associated with 28-day survival in sepsis patients, finding three novel variants linked to reduced survival.

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 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.

This study identifies sex-specific genetic associations with COVID-19 hospitalization in Spain and finds differences in heritability and inbreeding depression effects between males and females.

UTMOST identifies new ASD-associated genes through single and cross-tissue TWAS, revealing associations in brain and gastrointestinal tissues.

This study identifies DNA methylation sites at birth associated with ADHD symptoms later in childhood, but finds no such associations at school age.

The paper identifies de novo mutations in ASD, distinguishing between germinal and postzygotic mutations and their biological roles across different developmental stages and brain regions.

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

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.

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.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

The paper analyzes genome-wide SNP data to assess Sephardic ancestry in Iberian Peninsula populations and surrounding regions, finding evidence of recent Sephardic admixture and challenges in ancestry assignment.