Javier González‐Peñas

Pleiotropic genetic architecture linking schizophrenia and substance use disorders

This study identifies shared genetic architecture between schizophrenia and substance use disorders using GWAS and genomic methods, finding significant genetic correlations and bidirectional causal relationships.

Rare variation illuminates the distinct and pleiotropic genetic architecture of autism across neuropsychiatric traits

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

Sulcal Widening in Schizophrenia Maps onto Sulcal Hubs and Energy-Synaptic Genes

This study links sulcal widening in schizophrenia to network hubs and genes involved in synaptic signaling and energy metabolism.

Heterogeneity of morphometric similarity networks in health and schizophrenia

The paper examines morphometric similarity networks in health and schizophrenia, finding reduced default mode network similarity in schizophrenia but minimal individual deviations over time.

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.

Rare schizophrenia risk variant burden is conserved in diverse human populations

The paper investigates the conservation of rare schizophrenia risk variants across diverse populations and finds consistent burden in constrained genes.

Postzygotic and germinal de novo mutations in ASD: exploring their biological role

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.

Analyses of rare and common alleles in parent-proband trios implicate rare missense variants in SLC6A1 in schizophrenia and confirm the involvement of loss of function intolerant and neurodevelopmental disorder genes.

The paper analyzes rare and common alleles in schizophrenia trios, identifying rare missense variants in SLC6A1 and confirming the role of neurodevelopmental disorder genes.

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

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.