Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder.
Genetics
Elevated polygenic burden for autism spectrum disorder is associated with the broad autism phenotype in mothers of individuals with autism spectrum disorder.
MEF2C hypofunction in neuronal and neuroimmune populations produces MEF2C haploinsufficiency syndrome-like behaviors in mice.
Signatures of sex: Sex differences in gene expression in the vertebrate brain.
Sex differences in the epigenome: A cause or consequence of sexual differentiation of the brain?
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly.
In vivo functional study of disease-associated rare human variants using Drosophila.
De novo damaging DNA coding mutations are associated with obsessive-compulsive disorder and overlap with Tourette’s disorder and autism.
Nucleosome turnover regulates histone methylation patterns over the genome.
Integrating germline and mosaic mutations to uncover novel autism risk genes and biological mechanisms
Neurodevelopmental disorders, at-large, are genetically complex with hundreds of independent risk loci. Disruption of this diverse set of factors ultimately leads to the behaviorally defined clinical phenotypes that we have today, such as autism spectrum disorder (ASD). We still have little understanding of: (1) the core biology (pathophysiology) behind these conditions; (2) whether our clinically defined groups are single conditions or collections of hundreds of similar phenotypic presentations; and (3) how many roads may lead to the same underlying condition.
- Previous Page
- Viewing
- Next Page