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Open AccessDifferences in regional brain structure in toddlers with autism are related to future language outcomes
Language and social symptoms improve with age in some autistic toddlers, but not in others, and such outcome differences are not clearly predictable from clinical scores alone. Here we aim to identify early-ag...
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Open AccessEmbryonic origin of two ASD subtypes of social symptom severity: the larger the brain cortical organoid size, the more severe the social symptoms
Social affective and communication symptoms are central to autism spectrum disorder (ASD), yet their severity differs across toddlers: Some toddlers with ASD display improving abilities across early ages and d...
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Open AccessFunctional connectivity of the human face network exhibits right hemispheric lateralization from infancy to adulthood
Adults typically exhibit right hemispheric dominance in the processing of faces. In this cross-sectional study, we investigated age-dependent changes in face processing lateralization from infancy to adulthood...
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Open AccessPrognostic early snapshot stratification of autism based on adaptive functioning
A major goal of precision medicine is to predict prognosis based on individualized information at the earliest possible points in development. Using early snapshots of adaptive functioning and unsupervised dat...
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Open AccessAtypical functional connectivity of temporal cortex with precuneus and visual regions may be an early-age signature of ASD
Social and language abilities are closely intertwined during early typical development. In autism spectrum disorder (ASD), however, deficits in social and language development are early-age core symptoms. We p...
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Open AccessA predictive ensemble classifier for the gene expression diagnosis of ASD at ages 1 to 4 years
Autism Spectrum Disorder (ASD) diagnosis remains behavior-based and the median age of diagnosis is ~52 months, nearly 5 years after its first-trimester origin. Accurate and clinically-translatable early-age di...
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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 that genetic loads of rare and pol...
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Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex
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Open AccessLarge scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype
Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances i...
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Neural responses to affective speech, including motherese, map onto clinical and social eye tracking profiles in toddlers with ASD
Affective speech, including motherese, captures an infant’s attention and enhances social, language and emotional development. Decreased behavioural response to affective speech and reduced caregiver–child int...
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Open AccessPre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism
Early detection and intervention are believed to be key to facilitating better outcomes in children with autism, yet the impact of age at treatment start on the outcome is poorly understood. While clinical tra...
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Open AccessMultiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing
Both RNA-Seq and sample freeze-thaw are ubiquitous. However, knowledge about the impact of freeze-thaw on downstream analyses is limited. The lack of common quality metrics that are sufficiently sensitive to f...
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Open AccessAuthor Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Open AccessLarge-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, w...
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A perturbed gene network containing PI3K–AKT, RAS–ERK and WNT–β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity
Hundreds of genes are implicated in autism spectrum disorder (ASD), but the mechanisms through which they contribute to ASD pathophysiology remain elusive. Here we analyzed leukocyte transcriptomics from 1- to...
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Open AccessThe ASD Living Biology: from cell proliferation to clinical phenotype
Autism spectrum disorder (ASD) has captured the attention of scientists, clinicians and the lay public because of its uncertain origins and striking and unexplained clinical heterogeneity. Here we review genet...
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Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes
Heterogeneity in early language development in autism spectrum disorder (ASD) is clinically important and may reflect neurobiologically distinct subtypes. Here, we identified a large-scale association between ...
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Open AccessThe geometric preference subtype in ASD: identifying a consistent, early-emerging phenomenon through eye tracking
The wide range of ability and disability in ASD creates a need for tools that parse the phenotypic heterogeneity into meaningful subtypes. Using eye tracking, our past studies revealed that when presented with...
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Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
This study characterizes the properties of disease-causing mutations that produce sporadic amino acid replacements in proteins of people with autism and developmental delay. The mutations tend to cluster and r...
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Open AccessHierarchical cortical transcriptome disorganization in autism
Autism spectrum disorders (ASD) are etiologically heterogeneous and complex. Functional genomics work has begun to identify a diverse array of dysregulated transcriptomic programs (e.g., synaptic, immune, cell...
