[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
Sodium channelopathies in neurodevelopmental disorders
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
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 …
De novo mutations in schizophrenia implicate synaptic networks
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
Modeling gene× environment interactions in PTSD using human neurons reveals diagnosis-specific glucocorticoid-induced gene expression
Post-traumatic stress disorder (PTSD) can develop following severe trauma, but the extent to
which genetic and environmental risk factors contribute to individual clinical outcomes is …
which genetic and environmental risk factors contribute to individual clinical outcomes is …
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown
etiology. Recent studies employing exome-and genome-wide sequencing have identified …
etiology. Recent studies employing exome-and genome-wide sequencing have identified …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …