[HTML][HTML] Big data approaches to decomposing heterogeneity across the autism spectrum
Autism is a diagnostic label based on behavior. While the diagnostic criteria attempt to
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …
maximize clinical consensus, it also masks a wide degree of heterogeneity between and …
Autism spectrum disorder genetics and the search for pathological mechanisms
Recent progress in the identification of genes and genomic regions contributing to autism
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
spectrum disorder (ASD) has had a broad impact on our understanding of the nature of …
Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
[PDF][PDF] The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in the prefrontal cortex
Autism spectrum disorder (ASD) is strongly associated with de novo gene mutations. One of
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …
the most commonly affected genes is SCN2A. ASD-associated SCN2A mutations impair the …
[HTML][HTML] Opposing effects on NaV1. 2 function underlie differences between SCN2A variants observed in individuals with autism spectrum disorder or infantile seizures
R Ben-Shalom, CM Keeshen, KN Berrios, JY An… - Biological …, 2017 - Elsevier
Background Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel
Na V 1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay …
Na V 1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay …
Germline Chd8 haploinsufficiency alters brain development in mouse
AL Gompers, L Su-Feher, J Ellegood, NA Copping… - Nature …, 2017 - nature.com
The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental
gene networks implicated in autism. We examined the impact of germline heterozygous …
gene networks implicated in autism. We examined the impact of germline heterozygous …
ATP-dependent chromatin remodeling during mammalian development
SK Hota, BG Bruneau - Development, 2016 - journals.biologists.com
Precise gene expression ensures proper stem and progenitor cell differentiation, lineage
commitment and organogenesis during mammalian development. ATP-dependent …
commitment and organogenesis during mammalian development. ATP-dependent …
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk
Transcriptomic imputation approaches combine eQTL reference panels with large-scale
genotype data in order to test associations between disease and gene expression. These …
genotype data in order to test associations between disease and gene expression. These …
From pattern classification to stratification: towards conceptualizing the heterogeneity of Autism Spectrum Disorder
Pattern classification and stratification approaches have increasingly been used in research
on Autism Spectrum Disorder (ASD) over the last ten years with the goal of translation …
on Autism Spectrum Disorder (ASD) over the last ten years with the goal of translation …