ArticleNature medicine2023
Phenotypic effects of genetic variants associated with autism.
Article in Nature medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07427940 (Omic Profile in Autism Spectrum Disorder), which is not on this map. Cited by 55 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
Who cites it
55 citing papers in PubMed, 75 citations in OpenAlex.
- mTORC2-NaChannels (Austin, Tex.) · 2026Article
- Miscompartmentalization of microbiota-derived TMAO is a reversible driver in autism spectrum disorder.iScience · 2026Article
- Sex differences in 5-year incidence and prevalence of physical illnesses following early childhood autism diagnosis.JCPP advances · 2026Article
- Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank.Molecular psychiatry · 2026Article
- Preservation of Higher-Order Cognition in Autistic Females: Evidence from Two Deeply-Phenotyped Cohorts in Hong Kong and the United States.Research square · 2026Article
- Advancing risk gene discovery across the allele frequency spectrum.HGG advances · 2026Review
- Genetic architecture of patients with autism spectrum disorder - data analysis based on the literature review.BMC medical genomics · 2026Review
- Autism in neurofibromatosis type 1: prevalence, phenotype and clinical implications.Molecular autism · 2026Article
- mMolecular neurobiology · 2026Article
- Offspring genetic diversity regulates rearing experiences that predict differential susceptibility to Chd8 haploinsufficiency.Communications biology · 2026Article
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 2026Review
- Copper deficiency impairs oligodendrocyte maturation and social behavior via mitophagy and mTOR suppression in ASD.Science advances · 2026Article
- Article
- Patient-derived brain organoids reveal divergent neuronal activity across subpopulations of autism spectrum disorder.Translational psychiatry · 2026Article
- Generating and characterizing human telencephalic brain organoids from stem cell-derived single neural rosettes.Nature protocols · 2026Review
- Does genetic testing impact stigma in autism: A scoping review.Journal of community genetics · 2026Review
- Article
- Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score.JAACAP open · 2025Article
- Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study.Molecular autism · 2025Article
- Effect of Alzheimer's disease medications on neurocognitive outcomes in children and adolescents with autism spectrum disorder and low IQ: a scoping review.Translational psychiatry · 2025Article
Corrections and comments
- Commented on by
Authors and funding
25 authors at 7 institutions in 5 countries.
Funding
Abstract
While over 100 genes have been associated with autism, little is known about the prevalence of variants affecting them in individuals without a diagnosis of autism. Nor do we fully appreciate the phenotypic diversity beyond the formal autism diagnosis. Based on data from more than 13,000 individuals with autism and 210,000 undiagnosed individuals, we estimated the odds ratios for autism associated to rare loss-of-function (LoF) variants in 185 genes associated with autism, alongside 2,492 genes displaying intolerance to LoF variants. In contrast to autism-centric approaches, we investigated the correlates of these variants in individuals without a diagnosis of autism. We show that these variants are associated with a small but significant decrease in fluid intelligence, qualification level and income and an increase in metrics related to material deprivation. These effects were larger for autism-associated genes than in other LoF-intolerant genes. Using brain imaging data from 21,040 individuals from the UK Biobank, we could not detect significant differences in the overall brain anatomy between LoF carriers and non-carriers. Our results highlight the importance of studying the effect of the genetic variants beyond categorical diagnosis and the need for more research to understand the association between these variants and sociodemographic factors, to best support individuals carrying these variants.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.