[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 …

Current perspectives in autism spectrum disorder: from genes to therapy

M Chahrour, BJ O'Roak, E Santini… - Journal of …, 2016 - Soc Neuroscience
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …

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 …

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] The evolving diagnostic and genetic landscapes of autism spectrum disorder

MN Ziats, OM Rennert - Frontiers in genetics, 2016 - frontiersin.org
The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental
syndromes defined by impairments in verbal and non-verbal communication, restricted …

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 …

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders

M Moyses-Oliveira, R Yadav, S Erdin… - Current Opinion in …, 2020 - Elsevier
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …

[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 …

[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] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …