Mara Parellada

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

The paper examines hemispheric asymmetry in structural covariance networks in ASD across 43 datasets, finding altered topological features in specific brain regions.

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 two methylation-based episignatures in ADNP syndrome but finds limited correlation with clinical phenotypes.

This study identifies altered structural brain asymmetry in autism spectrum disorder using a large-scale meta-analysis of MRI data from 1,774 ASD cases and 1,809 controls.

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

The paper compares gene expression profiles of ASD and 22 cancer types, finding shared and opposing deregulations in specific cancers and common biological pathways.

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.