[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 …
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 …
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …
Advancing the understanding of autism disease mechanisms through genetics
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …
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 …
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 …
syndromes defined by impairments in verbal and non-verbal communication, restricted …
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
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 …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders
Highlights•Exome sequencing on unprecedented scale has identified 400 genes associated
with ASD and NDD.•Functional networks disrupted in NDD converge on distinct …
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 …
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 …
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
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 …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …