ArticleNature communications2024
A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 3 of them syntheses that pooled it.
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
14 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- The Effect of Intranasal Oxytocin on Social Interaction in Adults and Children With Autism Spectrum Disorders: A Systematic Review and Meta-analysis of Randomized Controlled Trials.Alpha psychiatry · 2026Pooled it
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Association between maternal asthma and ASD/ADHD in offspring: A meta-analysis based on observational studies.NPJ primary care respiratory medicine · 2025Pooled it
- Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder.medRxiv : the preprint server for health sciences · 2026Article
- Copy number variants reveal divergent genetic and diagnostic cortical signatures across psychiatric disorders.Research square · 2026Article
- Global Inequality and Future Burden of Autism Spectrum Disorders: A Frontier and Projection Analysis Based on GBD 2021.Brain and behavior · 2026Article
- Estradiol modulates neuronal network hyperexcitability in select NDD risk genes.bioRxiv : the preprint server for biology · 2026Article
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population.American journal of human genetics · 2025Article
- The Long and Winding Road to Understanding Autism.NeuroSci · 2025Review
- Heightened interest in the human X and Y chromosomes.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Social communication skills profile in infants with sex chromosome trisomy at 12 months of age.Infant behavior & development · 2025Article
- Disentangling the Switching Behavior in Functional Connectivity Dynamics in Autism Spectrum Disorder: Insights from Developmental Cohort Analysis and Molecular-Cellular Associations.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Global burden and trends of major mental disorders in individuals under 24 years of age from 1990 to 2021, with projections to 2050: insights from the Global Burden of Disease Study 2021.Frontiers in public health · 2025Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
A female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females. However, genetic and epidemiological investigations of this hypothesis have so far failed to explain the large difference in ASD prevalence between the sexes. To address this knowledge gap, we examined sex chromosome aneuploidy in a large ASD case-control cohort to evaluate the relationship between X and Y chromosome dosage and ASD risk. From these data, we modeled three relationships between sex chromosome dosage and ASD risk: the extra Y effect, the extra X effect, and sex chromosome haploinsufficiency. We found that the extra Y effect increased ASD risk significantly more than the extra X effect. Among females, we observed a large association between 45, X and ASD, confirming sex chromosome haploinsufficiency as a strong ASD risk factor. These results provide a framework for understanding the relationship between X and Y chromosome dosage on ASD, which may inform future research investigating genomic contributors to the observed sex difference.
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Registered trials
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