A de novo convergence of autism genetics and molecular neuroscience

N Krumm, BJ O'Roak, J Shendure, EE Eichler - Trends in neurosciences, 2014 - cell.com
Autism spectrum disorder (ASD) and intellectual disability (ID) are neurodevelopmental
disorders with large genetic components, but identification of pathogenic genes has …

[HTML][HTML] Autism: many genes, common pathways?

DH Geschwind - Cell, 2008 - cell.com
Autism is a heterogeneous neurodevelopmental syndrome with a complex genetic etiology.
It is still not clear whether autism comprises a vast collection of different disorders akin to …

Genetic basis of autism: is there a way forward?

V Eapen - Current opinion in psychiatry, 2011 - journals.lww.com
Understanding the neurobiological processes by which genotypes become phenotypes,
along with the advances in developmental neuroscience and neuronal networks at the …

Autism and brain development

CA Walsh, EM Morrow, JLR Rubenstein - Cell, 2008 - cell.com
Genetic studies are refining our understanding of neurodevelopmental mechanisms in
autism. Some autism-related mutations appear to disrupt genes regulated by neuronal …

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 …

Three autism candidate genes: a synthesis of human genetic analysis with other disciplines

CW Bartlett, N Gharani, JH Millonig… - International Journal of …, 2005 - Elsevier
Autism is a particularly complex disorder when considered from virtually any methodological
framework, including the perspective of human genetics. We first present a review of the …

Defining the cognitive phenotype of autism

T Charman, CRG Jones, A Pickles, E Simonoff, G Baird… - Brain research, 2011 - Elsevier
Although much progress has been made in determining the cognitive profile of strengths
and weaknesses that characterise individuals with autism spectrum disorders (ASDs), there …

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 …

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 …

Genetics of autism spectrum disorders

RA Kumar, SL Christian - Current neurology and neuroscience reports, 2009 - Springer
Autism spectrum disorders (ASDs) are a clinically complex group of childhood disorders that
have firm evidence of an underlying genetic etiology. Many techniques have been used to …