Denovo-db: A compendium of human de novo variants.
Genetics
Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Reverse pathway genetic approach identifies epistasis in autism spectrum disorders.
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Exaggerated CpH methylation in the autism-affected brain.
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia and facial dysmorphism.
Diverse non-genetic, allele-specific expression effects shape genetic architecture at the cellular level in the mammalian brain.
Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
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