Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
fueled remarkable advances in our understanding of its potential neurobiological …
Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis
Genes involved in synaptic function are enriched among those with autism spectrum
disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has …
disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has …
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …
The contribution of de novo coding mutations to autism spectrum disorder
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
Dissecting the contribution of host genetics and the microbiome in complex behaviors
The core symptoms of many neurological disorders have traditionally been thought to be
caused by genetic variants affecting brain development and function. However, the gut …
caused by genetic variants affecting brain development and function. However, the gut …
A general framework for estimating the relative pathogenicity of human genetic variants
Current methods for annotating and interpreting human genetic variation tend to exploit a
single information type (for example, conservation) and/or are restricted in scope (for …
single information type (for example, conservation) and/or are restricted in scope (for …
Integrating mapping-, assembly-and haplotype-based approaches for calling variants in clinical sequencing applications
High-throughput DNA sequencing technology has transformed genetic research and is
starting to make an impact on clinical practice. However, analyzing high-throughput …
starting to make an impact on clinical practice. However, analyzing high-throughput …
A framework for the interpretation of de novo mutation in human disease
Spontaneously arising (de novo) mutations have an important role in medical genetics. For
diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the …
diseases with extensive locus heterogeneity, such as autism spectrum disorders (ASDs), the …
Genomic patterns of de novo mutation in simplex autism
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …