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 …

[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder

L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

[HTML][HTML] Translational approaches to the biology of Autism: false dawn or a new era?

C Ecker, W Spooren, DGM Murphy - Molecular psychiatry, 2013 - nature.com
Discovering novel treatments for Autism Spectrum Disorders (ASD) is a challenge. Its
etiology and pathology remain largely unknown, the condition shows wide clinical diversity …

Genetic heterogeneity in autism: From single gene to a pathway perspective

JY An, C Claudianos - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major
challenge. Recent advances in genetic screening and systems biology approaches have …

Autism spectrum disorders: from genes to neurobiology

AJ Willsey, MW State - Current opinion in neurobiology, 2015 - Elsevier
Highlights•High throughput genomic methods are rapidly increasing the pool of ASD
genes.•Heterogeneity, pleiotropy, and brain complexity complicate translation to …

[HTML][HTML] Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

H Won, W Mah, E Kim - Frontiers in molecular neuroscience, 2013 - frontiersin.org
Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by
impairments in social interaction and communication and restricted and repetitive …

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 …

[HTML][HTML] Lost in translation: traversing the complex path from genomics to therapeutics in autism spectrum disorder

N Sestan - Neuron, 2018 - cell.com
Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD)
highlights rare, large-effect, germline, heterozygous de novo coding mutations. This …

Genetic modules for autism

B LaFlamme - Nature Genetics, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with most ASD-associated
variants accounting for very few cases. Michael Snyder and colleagues used a systems …

The emerging picture of autism spectrum disorder: genetics and pathology

JA Chen, O Peñagarikano, TG Belgard… - Annual Review of …, 2015 - annualreviews.org
Autism spectrum disorder (ASD) is defined by impaired social interaction and
communication accompanied by stereotyped behaviors and restricted interests. Although …