ArticleNature genetics2025
Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs.
Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
60 citing papers in PubMed.
- Shared genetic architecture across social disconnection, social disadvantage, and psychiatric and neurodevelopmental traits.European archives of psychiatry and clinical neuroscience · 2026Article
- Association Between Toe Walking and Repetitive Behaviors in Children with Autism Spectrum Disorder: A Cross-Sectional Phenotypic Analysis.Medicina (Kaunas, Lithuania) · 2026Article
- Social Functioning Profiles in Children with Autism Spectrum Disorder in China: A Preliminary Identification of Subtypes.Behavioral sciences (Basel, Switzerland) · 2026Article
- Clinical Profile of First-Time Diagnosis of Autism Spectrum Disorder in School-Aged Youth.Children (Basel, Switzerland) · 2026Article
- Systematic CRISPRi perturbation of 1,408 autism risk genes maps multilevel transcriptional convergence in human cortical neurons.bioRxiv : the preprint server for biology · 2026Article
- Distinct Temporal Stages of Infant Brain Processing Associate With Early Versus Later Autism Diagnosis.Developmental science · 2026Article
- Heterogeneous functional state dynamics and its structural substrates in male individuals with autism spectrum disorder.Molecular psychiatry · 2026Article
- Dynamic Functional Synchronization Profiles in Autism Differ by Spatial Scale and Along Hierarchical Cortical Gradients.Biological psychiatry global open science · 2026Article
- Developmental Trajectories of Autistic Traits in Infants With Autism and/or ADHD Family History: Predictors and Mid-Childhood Outcomes.Journal of autism and developmental disorders · 2026Article
- Participant-Independent Classification of Autism-Related Visual Attention Patterns from Eye-Tracking Scanpath Images Using a Global-Local Fusion Network.Journal of eye movement research · 2026Article
- A Survey-Based Study Investigating Opinions on Genetic Research Among Swedish Autistic Individuals and Parents of Autistic Children.Autism : the international journal of research and practice · 2026Article
- Challenging the Developmental Substructure Model for Autism: A Perspective From Causal Statistics.Autism research : official journal of the International Society for Autism Research · 2026Article
- Genomic, Transcriptomic, and Regulomic Analyses Do Not Support Profound Autism as a Distinct Biological Category.bioRxiv : the preprint server for biology · 2026Article
- Developmental Trajectories of Joint Attention and Behavioral Request in Infancy: A Longitudinal Study from 8 to 18 Months.Children (Basel, Switzerland) · 2026Article
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- Spatiotemporal brain-state dynamics delineate executive function subtypes in school-aged autism: evidence from co-activation patterns and a four-year follow-up.Molecular autism · 2026Article
- From heterogeneity to translation: data‑driven subtyping of autism in a multilevel framework.Translational psychiatry · 2026Review
- Decomposing the genetic risk of autism spectrum disorder into discrete molecular subtypes underlie clinical heterogeneity based on transcriptome profile.Journal of translational medicine · 2026Article
- Parsing autism spectrum heterogeneity through fMRI.Nature neuroscience · 2026Article
- Autism and Cortical Thickness Deviation From Neurotypical Controls: Evidence for a Spatial Association With Serotonin Receptors.Autism research : official journal of the International Society for Autism Research · 2026Article
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Funding
Abstract
Unraveling the phenotypic and genetic complexity of autism is extremely challenging yet critical for understanding the biology, inheritance, trajectory and clinical manifestations of the many forms of the condition. Using a generative mixture modeling approach, we leverage broad phenotypic data from a large cohort with matched genetics to identify robust, clinically relevant classes of autism and their patterns of core, associated and co-occurring traits, which we further validate and replicate in an independent cohort. We demonstrate that phenotypic and clinical outcomes correspond to genetic and molecular programs of common, de novo and inherited variation and further characterize distinct pathways disrupted by the sets of mutations in each class. Remarkably, we discover that class-specific differences in the developmental timing of affected genes align with clinical outcome differences. These analyses demonstrate the phenotypic complexity of children with autism, identify genetic programs underlying their heterogeneity, and suggest specific biological dysregulation patterns and mechanistic hypotheses.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.