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 genetics: opportunities and challenges for clinical translation
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 …
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
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 …
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
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 …
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
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 …
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 …
worldwide prevalence of about 1%, characterized by impairments in social interaction …
Excess of rare, inherited truncating mutations in autism
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 …
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …
De novo gene disruptions in children on the autistic spectrum
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 …
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
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 …
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
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …
susceptibility loci. Previous microarray and exome-sequencing studies have examined …