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 genetics: opportunities and challenges for clinical translation

JAS Vorstman, JR Parr, D Moreno-De-Luca… - Nature Reviews …, 2017 - nature.com
Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their
risk effects are highly variable, and they are frequently related to other conditions besides …

The contribution of de novo coding mutations to autism spectrum disorder

I Iossifov, BJ O'roak, SJ Sanders, M Ronemus… - Nature, 2014 - nature.com
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

D Antaki, J Guevara, AX Maihofer, M Klein, M Gujral… - Nature …, 2022 - nature.com
The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how
combinations of genetic factors determine risk is unclear. In a large family sample, we show …

[HTML][HTML] Sex/gender differences and autism: setting the scene for future research

MC Lai, MV Lombardo, B Auyeung… - Journal of the American …, 2015 - Elsevier
Objective The relationship between sex/gender differences and autism has attracted a
variety of research ranging from clinical and neurobiological to etiological, stimulated by the …

Sex differences in autism spectrum disorder: diagnostic, neurobiological, and behavioral features

A Napolitano, S Schiavi, P La Rosa… - Frontiers in …, 2022 - frontiersin.org
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a
worldwide prevalence of about 1%, characterized by impairments in social interaction …

Excess of rare, inherited truncating mutations in autism

N Krumm, TN Turner, C Baker, L Vives, K Mohajeri… - Nature …, 2015 - nature.com
To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …

De novo gene disruptions in children on the autistic spectrum

I Iossifov, M Ronemus, D Levy, Z Wang, I Hakker… - Neuron, 2012 - cell.com
Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …

Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study

S Ozonoff, GS Young, A Carter, D Messinger… - …, 2011 - publications.aap.org
OBJECTIVE: The recurrence risk of autism spectrum disorders (ASD) is estimated to be
between 3% and 10%, but previous research was limited by small sample sizes and biases …

Whole-genome sequencing of quartet families with autism spectrum disorder

RKC Yuen, B Thiruvahindrapuram, D Merico… - Nature medicine, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …