ArticleNeuron2011
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Article in Neuron, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 410 papers, 5 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
410 citing papers in PubMed, 5 syntheses or guidelines pooled it, 731 citations in OpenAlex.
- Comparing the Gut Microbiome in Autism and Preclinical Models: A Systematic Review.Frontiers in cellular and infection microbiology · 2022Pooled it
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Blood transcriptomic comparison of individuals with and without autism spectrum disorder: A combined-samples mega-analysis.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017Pooled it
- Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities.Genome biology · 2016Pooled it
- Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.Scientific reports · 2017Trial
- Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis.International journal of molecular sciences · 2026Article
- The role of astrocytes in autism spectrum disorder and associated syndromes: Evidence, animal models, mechanisms, and therapeutic potential.Zoological research · 2026Review
- Understanding Sex and Gender Effects on Autism Spectrum Disorder and Obsessive-Compulsive Disorder: Clinical Presentation and Risk Factors.Biological psychiatry global open science · 2026Review
- Sex Differences in Spatiotemporal Consistency and Effective Connectivity of the Precuneus in Autism Spectrum Disorder.Journal of autism and developmental disorders · 2026Article
- Gut microbiome composition and strain-sharing in multiplex autism spectrum disorder families.Nature communications · 2026Article
- Autism Spectrum Disorder in the Genomic Era: A Comprehensive Review of Etiology, Precision Diagnostics, Clinical Outcomes, and Emerging Gene-Editing Therapies.Neuropsychiatric disease and treatment · 2026Review
- Generation and characterization of a knockout mouse of an enhancer of EBF3.Biology open · 2025Article
- Analyzing the large and complex SFARI autism cohort data using the Genotypes and Phenotypes in Families (GPF) platform.Genome research · 2025Article
- Social Communication, Repetitive Behaviors and Interests, and Adaptive Behavior in Girls With Autism Spectrum Disorder Without Intellectual Disability.Journal of autism and developmental disorders · 2025Article
- Persistent cortical excitatory neuron dysregulation in adultResearch square · 2025Article
- Innovative biomarker exploration in ASD: Combining Graph Neural Networks and permutation testing on fMRI data.Neuroimage. Reports · 2025Article
- Ptprd deficiency promotes tau hyperphosphorylation and impairs cognitive function in aged mice.Biological research · 2025Article
- Cytogenomic characterization of karyotypes with additional autosomal material.Scientific reports · 2025Article
- Cross-modal privacy-preserving synthesis and mixture-of-experts ensemble for robust ASD prediction.Frontiers in neuroinformatics · 2025Article
350 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited "ultrarare" duplications. Our results show that, relative to males, females have greater resistance to autism from genetic causes, which raises the question of the fate of female carriers. By analysis of the proportion and number of recurrent loci, we set a lower bound for distinct target loci at several hundred. We find many new candidate regions, adding substantially to the list of potential gene targets, and confirm several loci previously observed. The functions of the genes in the regions of de novo variation point to a great diversity of genetic causes but also suggest functional convergence.
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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.