Andreas G. Chiocchetti

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.

Ischemic injury triggers a protective microglial phenotype in models of Aβ pathology

The paper investigates how ischemic injury affects microglial response to Aβ pathology, finding a protective microglial phenotype that promotes benign Aβ plaque formation.

Inhibition of the neurodevelopmental disorder-associated 16p11.2 gene QPRT leads to altered cell type distribution in human stem cell-derived cerebral organoids

This study inhibits QPRT in human stem cell-derived cerebral organoids, revealing altered cell type distribution and metabolic stress linked to neurodevelopmental disorders.

Expression profile of the ADHD risk gene ADGRL3 during human neurodevelopment and the effects of genetic variation

This study investigates ADGRL3 expression during human neurodevelopment and finds that the rs1397547 SNP is associated with increased ADGRL3 transcription and a unique transcriptional profile in cortical neurons.

DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan

This paper identifies DNA methylation sites associated with aggression through a meta-analysis of epigenome-wide studies across different age groups and tissues.

Episignatures stratifying ADNP syndrome show modest correlation with phenotype

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

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.

Ataxia Telangiectasia triggers deficits in Reelin pathway

The paper identifies reduced Reelin pathway components in Ataxia Telangiectasia, linking them to cerebellar neurodegeneration and suggesting potential therapeutic targets.

Mapping the genetics of neuropsychological traits to the molecular network of the human brain using a data integrative approach

The paper integrates genetic and transcriptome data to link neuropsychological traits to brain gene networks, identifying IQ-associated genetic variants in an autism cohort.