Silvia De Rubeis

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 moderate effect size genes in ASD through a gene pairing approach, showing their combined contribution to ASD liability.

This study shows that Ddx3x mutations cause sex-specific changes in neuronal development and behavior, affecting ribosomal biogenesis, dendritic growth, and motor function in mice.

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

MoNvIso predicts the correct protein isoform for mutations and builds structural models of wild-type and variant isoforms using gene names and mutation lists.

This study develops a Ddx3x haploinsufficient mouse model to investigate DDX3X syndrome, finding developmental and behavioral abnormalities linked to brain structural changes.

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

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

This study shows that deleting the KH1 domain of Fmr1 in rats causes attention deficits and transcriptional changes in the medial prefrontal cortex, similar to FXS, and identifies potential therapeutic targets.

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 identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.