ArticleHuman molecular genetics2013
Global increases in both common and rare copy number load associated with autism.
Article in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 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.
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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
39 citing papers in PubMed, 59 citations in OpenAlex.
- Mitochondrial Dysfunction in Autism and Attention-Deficit/Hyperactivity Disorder: Evidence from Genetic, Biochemical, and Neuroimaging Approaches.Antioxidants (Basel, Switzerland) · 2026Review
- Comment on Chu et al. Acetaminophen's Role in Autism and ADHD: A Mitochondrial Perspective.International journal of molecular sciences · 2025Article
- Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.American journal of human genetics · 2023Article
- Article
- Clinical Characterization of a 6-Year-Old Patient with Autism and Two Adjacent Duplications on 10q11.22q11.23. A Case Report.Children (Basel, Switzerland) · 2021Article
- Factors Affecting Family Compliance with Genetic Testing of Children Diagnosed with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2021Article
- Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families.Journal of autism and developmental disorders · 2021Article
- Language characterization in 16p11.2 deletion and duplication syndromes.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2020Article
- A Prospective Study of Environmental Exposures and Early Biomarkers in Autism Spectrum Disorder: Design, Protocols, and Preliminary Data from the MARBLES Study.Environmental health perspectives · 2018Article
- Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion.Journal of neurophysiology · 2018Article
- PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.Nature communications · 2017Article
- The joint effect of air pollution exposure and copy number variation on risk for autism.Autism research : official journal of the International Society for Autism Research · 2017Article
- Severity of ASD symptoms and their correlation with the presence of copy number variations and exposure to first trimester ultrasound.Autism research : official journal of the International Society for Autism Research · 2017Article
- Bio-collections in autism research.Molecular autism · 2017Review
- Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.American journal of human genetics · 2016Article
- The landscape of DNA methylation amid a perfect storm of autism aetiologies.Nature reviews. Neuroscience · 2016Review
- Genome-wide Purification of Extrachromosomal Circular DNA from Eukaryotic Cells.Journal of visualized experiments : JoVE · 2016Article
- Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.Psychiatric genetics · 2016Article
- Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.The Journal of thoracic and cardiovascular surgery · 2016Article
- Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.Human genetics · 2016Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been documented. We examined CNV data from 516 individuals with autism or typical development from the population-based Childhood Autism Risks from Genetics and Environment (CHARGE) study. We interrogated 120 regions flanked by segmental duplications (genomic hotspots) for events >50 kbp and the entire genomic backbone for variants >300 kbp using a custom targeted DNA microarray. This analysis was complemented by a separate study of five highly dynamic hotspots associated with autism or developmental delay syndromes, using a finely tiled array platform (>1 kbp) in 142 children matched for gender and ethnicity. In both studies, a significant increase in the number of base pairs of duplication, but not deletion, was associated with autism. Significantly elevated levels of CNV load remained after the removal of rare and likely pathogenic events. Further, the entire CNV load detected with the finely tiled array was contributed by common variants. The impact of this variation was assessed by examining the correlation of clinical outcomes with CNV load. The level of personal and social skills, measured by Vineland Adaptive Behavior Scales, negatively correlated (Spearman's r = -0.13, P = 0.034) with the duplication CNV load for the affected children; the strongest association was found for communication (P = 0.048) and socialization (P = 0.022) scores. We propose that CNV load, predominantly increased genomic base pairs of duplication, predisposes to autism.
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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.