[HTML][HTML] An overview of autism spectrum disorder, heterogeneity and treatment options

A Masi, MM DeMayo, N Glozier, AJ Guastella�- Neuroscience bulletin, 2017 - Springer
Since the documented observations of Kanner in 1943, there has been great debate about
the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known�…

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang…�- Nature Reviews�…, 2022 - nature.com
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�…

[HTML][HTML] Excitatory/inhibitory balance and circuit homeostasis in autism spectrum disorders

SB Nelson, V Valakh�- Neuron, 2015 - cell.com
Autism spectrum disorders (ASDs) and related neurological disorders are associated with
mutations in many genes affecting the ratio between neuronal excitation and inhibition�…

From the genetic architecture to synaptic plasticity in autism spectrum disorder

T Bourgeron�- Nature Reviews Neuroscience, 2015 - nature.com
Genetics studies of autism spectrum disorder (ASD) have identified several risk genes that
are key regulators of synaptic plasticity. Indeed, many of the risk genes that have been�…

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

I Voineagu, X Wang, P Johnston, JK Lowe, Y Tian…�- Nature, 2011 - nature.com
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental
condition characterized by marked genetic heterogeneity,,. Thus, a fundamental question is�…

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein…�- Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological�…

Functional impact of global rare copy number variation in autism spectrum disorders

D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico…�- Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by
impairments in reciprocal social interaction and communication, and the presence of�…

Strong association of de novo copy number mutations with autism

J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin…�- Science, 2007 - science.org
We tested the hypothesis that de novo copy number variation (CNV) is associated with
autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH)�…

Conserved role of intragenic DNA methylation in regulating alternative promoters

AK Maunakea, RP Nagarajan, M Bilenky, TJ Ballinger…�- Nature, 2010 - nature.com
Although it is known that the methylation of DNA in 5′ promoters suppresses gene
expression, the role of DNA methylation in gene bodies is unclear,,,,. In mammals, tissue�…

Dendritic spine pathology in neuropsychiatric disorders

P Penzes, ME Cahill, KA Jones, JE VanLeeuwen…�- Nature�…, 2011 - nature.com
Substantial progress has been made toward understanding the genetic architecture, cellular
substrates, brain circuits and endophenotypic profiles of neuropsychiatric disorders�…