Trial reportScientific reports2017
Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort.
Trial report in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Pooled it
- Maternal fatty acid concentrations and newborn DNA methylation.The American journal of clinical nutrition · 2020Trial
- Organoid intelligence: a promising paradigm for autism spectrum disorder research.Molecular psychiatry · 2026Review
- CNTN6 Modulates Slit-Robo Signaling in Cortical GABAergic Interneuron Migration.Neuroscience bulletin · 2026Article
- Unraveling mGluR5 dysfunction in autism spectrum disorder: a multi-level analysis of genetic, molecular, and neurobiological mechanisms.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Enhancing the discriminatory power of polygenic scores for ADHD and autism in clinical and non-clinical samples.Journal of neurodevelopmental disorders · 2025Article
- The WAVE complex in developmental and adulthood brain disorders.Experimental & molecular medicine · 2025Review
- Case Report: An adult withFrontiers in psychiatry · 2025Article
- Genetic etiology of autism spectrum disorder in the African population: a scoping review.Frontiers in genetics · 2024Article
- The genetic landscape of autism spectrum disorder in the Middle Eastern population.Frontiers in genetics · 2024Article
- Autism Spectrum Disorder: A Neuro-Immunometabolic Hypothesis of the Developmental Origins.Biology · 2023Article
- Corpus Callosum Volumes in Children with Autism Spectrum Disorders: Sex-Associated Differences.Journal of autism and developmental disorders · 2023Article
- Genetic diagnostic yields of 354 Chinese ASD children with rare mutations by a pipeline of genomic tests.Frontiers in genetics · 2023Article
- Shared and divergent contribution of vitamin A and oxytocin to the aetiology of autism spectrum disorder.Computational and structural biotechnology journal · 2023Article
- Evaluating the effect of R-Baclofen and LP-211 on autistic behavior of the BTBR andFrontiers in neuroscience · 2023Article
- Synaptotagmin 2 is ectopically overexpressed in excitatory presynapses of a widely used CaMKΙΙα-Cre mouse line.iScience · 2022Article
- Maternal-fetal stress and DNA methylation signatures in neonatal saliva: an epigenome-wide association study.Clinical epigenetics · 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
- Autism Spectrum Disorder: Focus on Glutamatergic Neurotransmission.International journal of molecular sciences · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) describes a group of neurodevelopmental disorders with high heritability, although the underlying genetic determinants of ASDs remain largely unknown. Large-scale whole-genome studies of copy number variation in Han Chinese samples are still lacking. We performed a genome-wide copy number variation analysis of 343 ASD trios, 203 patients with sporadic cases and 988 controls in a Chinese population using Illumina genotyping platforms to identify CNVs and related genes that may contribute to ASD risk. We identified 32 rare CNVs larger than 1 Mb in 31 patients. ASD patients were found to carry a higher global burden of rare, large CNVs than controls. Recurrent de novo or case-private CNVs were found at 15q11-13, Xp22.3, 15q13.1-13.2, 3p26.3 and 2p12. The de novo 15q11-13 duplication was more prevalent in this Chinese population than in those with European ancestry. Several genes, including GRAMD2 and STAM, were implicated as novel ASD risk genes when integrating whole-genome CNVs and whole-exome sequencing data. We also identified several CNVs that include known ASD genes (SHANK3, CDH10, CSMD1) or genes involved in nervous system development (NYAP2, ST6GAL2, GRM6). Besides, our study also implicated Contactins-NYAPs-WAVE1 pathway in ASD pathogenesis. Our findings identify ASD-related CNVs in a Chinese population and implicate novel ASD risk genes and related pathway for further study.
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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.