[HTML][HTML] Big data approaches to decomposing heterogeneity across the autism spectrum

MV Lombardo, MC Lai, S Baron-Cohen - Molecular psychiatry, 2019 - nature.com
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 …

Autism spectrum disorder genetics and the search for pathological mechanisms

DS Manoli, MW State - American Journal of Psychiatry, 2021 - Am Psychiatric Assoc
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 …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

BP Coe, HAF Stessman, A Sulovari, MR Geisheker… - Nature …, 2019 - nature.com
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 …

[PDF][PDF] The autism-associated gene Scn2a contributes to dendritic excitability and synaptic function in the prefrontal cortex

PWE Spratt, R Ben-Shalom, CM Keeshen, KJ Burke… - Neuron, 2019 - cell.com
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 …

[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 …

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 …

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 …

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

LM Huckins, A Dobbyn, DM Ruderfer, G Hoffman… - Nature …, 2019 - nature.com
Transcriptomic imputation approaches combine eQTL reference panels with large-scale
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

T Wolfers, DL Floris, R Dinga, D van Rooij… - Neuroscience & …, 2019 - Elsevier
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 …