Gene expression studies in autism: moving from the genome to the transcriptome and beyond

I Voineagu - Neurobiology of disease, 2012 - Elsevier
Autism is a clinically and genetically heterogeneous neurodevelopmental disorder. Although
multiple genes, risk alleles and copy number variants (CNVs) have been implicated in ASD …

Autism spectrum disorder: insights into convergent mechanisms from transcriptomics

M Quesnel-Vallières, RJ Weatheritt, SP Cordes… - Nature Reviews …, 2019 - nature.com
Heredity has a major role in autism spectrum disorder (ASD), yet underlying causal genetic
variants have been defined only in a fairly small subset of cases. The enormous genetic …

Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD)

A Genovese, MG Butler - International journal of molecular sciences, 2020 - mdpi.com
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

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 …

Epigenomic signatures reveal mechanistic clues and predictive markers for autism spectrum disorder

JM LaSalle - Molecular psychiatry, 2023 - nature.com
Autism spectrum disorder (ASD) comprises a heterogeneous group of neurodevelopmental
outcomes in children with a commonality in deficits in social communication and language …

Neurodevelopmental heterogeneity and computational approaches for understanding autism

S Jacob, JJ Wolff, MS Steinbach, CB Doyle… - Translational …, 2019 - nature.com
In recent years, the emerging field of computational psychiatry has impelled the use of
machine learning models as a means to further understand the pathogenesis of multiple …

Biomarkers in autism spectrum disorder: the old and the new

B Ruggeri, U Sarkans, G Schumann, AM Persico - Psychopharmacology, 2014 - Springer
Rationale Autism spectrum disorder (ASD) is a complex heterogeneous
neurodevelopmental disorder with onset during early childhood and typically a life-long …

Common risk variants identified in autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, R Walters… - biorxiv, 2017 - biorxiv.org
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

The neurobiology of autism

CA Pardo, CG Eberhart - Brain pathology, 2007 - Wiley Online Library
Improving clinical tests are allowing us to more precisely classify autism spectrum disorders
and diagnose them at earlier ages. This raises the possibility of earlier and potentially more …

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

JY An, K Lin, L Zhu, DM Werling, S Dong, H Brand… - Science, 2018 - science.org
INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which is
translated into proteins. The “coding genome” describes the DNA that contains the …