ArticleAmerican journal of human genetics2013
Transmission disequilibrium of small CNVs in simplex autism.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- A Frameshift Variant in the CHST9 Gene Identified by Family-Based Whole Genome Sequencing Is Associated with Schizophrenia in Chinese Population.Scientific reports · 2019Trial
- The inactive X chromosome as a female protector in autism and beyond.Nature genetics · 2026Review
- Increased expression of ATase1/NAT8B or ATase2/NAT8 in the mouse results in an autistic-like phenotype with altered dendritic branching and spine formation.Molecular psychiatry · 2026Article
- Overexpression of ATase1 and ATase2 disrupts the secretome and causes a progeria phenotype.Life science alliance · 2025Article
- Generation and characterization of a knockout mouse of an enhancer of EBF3.Biology open · 2025Article
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Three generation families: Analysis of de novo variants in autism.European journal of human genetics : EJHG · 2023Article
- Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.International journal of molecular sciences · 2023Article
- Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.Computational and structural biotechnology journal · 2023Article
- CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.Cell genomics · 2022Article
- Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.EBioMedicine · 2022Article
- A general framework for identifying oligogenic combinations of rare variants in complex disorders.Genome research · 2022Article
- Dystrophin genetic variants and autism.Discover mental health · 2022Article
- ATase inhibition rescues age-associated proteotoxicity of the secretory pathway.Communications biology · 2022Article
- Identification of aberrant innate and adaptive immunity based on changes in global gene expression in the blood of adults with autism spectrum disorder.Journal of neuroinflammation · 2021Article
- Endoplasmic reticulum acetyltransferases Atase1 and Atase2 differentially regulate reticulophagy, macroautophagy and cellular acetyl-CoA metabolism.Communications biology · 2021Article
- Article
- Review
- Attention-deficit/hyperactivity disorder and lifetime cannabis use: genetic overlap and causality.Molecular psychiatry · 2020Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors.
Funding
Abstract
We searched for disruptive, genic rare copy-number variants (CNVs) among 411 families affected by sporadic autism spectrum disorder (ASD) from the Simons Simplex Collection by using available exome sequence data and CoNIFER (Copy Number Inference from Exome Reads). Compared to high-density SNP microarrays, our approach yielded ∼2× more smaller genic rare CNVs. We found that affected probands inherited more CNVs than did their siblings (453 versus 394, p = 0.004; odds ratio [OR] = 1.19) and that the probands' CNVs affected more genes (921 versus 726, p = 0.02; OR = 1.30). These smaller CNVs (median size 18 kb) were transmitted preferentially from the mother (136 maternal versus 100 paternal, p = 0.02), although this bias occurred irrespective of affected status. The excess burden of inherited CNVs among probands was driven primarily by sibling pairs with discordant social-behavior phenotypes (p < 0.0002, measured by Social Responsiveness Scale [SRS] score), which contrasts with families where the phenotypes were more closely matched or less extreme (p > 0.5). Finally, we found enrichment of brain-expressed genes unique to probands, especially in the SRS-discordant group (p = 0.0035). In a combined model, our inherited CNVs, de novo CNVs, and de novo single-nucleotide variants all independently contributed to the risk of autism (p < 0.05). Taken together, these results suggest that small transmitted rare CNVs play a role in the etiology of simplex autism. Importantly, the small size of these variants aids in the identification of specific genes as additional risk factors associated with ASD.
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