ReviewNature reviews. Genetics2014
The role of de novo mutations in the genetics of autism spectrum disorders.
Review in Nature reviews. Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 199 papers, 3 of them syntheses 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
199 citing papers in PubMed, 3 syntheses or guidelines pooled it, 400 citations in OpenAlex.
- Effects of Probiotics on Autism Spectrum Disorder in Children: A Systematic Review and Meta-Analysis of Clinical Trials.Nutrients · 2023Pooled it
- Probiotics, prebiotics, and synbiotics for patients with autism spectrum disorder: a meta-analysis and umbrella review.Frontiers in nutrition · 2023Pooled it
- Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.Translational psychiatry · 2020Pooled it
- Elevation of HNeuroscience bulletin · 2026Article
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- Multi-omics Differential Inference for Functional Interpretation (MoDIFI): A Statistical Framework to Prioritize Cell Lines for Neurodevelopmental Variants.bioRxiv : the preprint server for biology · 2026Article
- Bioinformatics analysis of de novo missense variants inAmerican journal of translational research · 2026Article
- Association Between Age-Specific Sleep Sufficiency and Autism Spectrum Disorder in U.S. Children.Journal of autism and developmental disorders · 2025Article
- Single-cell sequencing and organoids: applications in organ development and disease.Molecular biomedicine · 2025Review
- Persistent cortical excitatory neuron dysregulation in adultResearch square · 2025Article
- The DCIDE framework: systematic investigation of evolutionary hypotheses, exemplified with autism.Biological reviews of the Cambridge Philosophical Society · 2025Review
- Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.Medicina (Kaunas, Lithuania) · 2025Article
- Behavioral Physiology of the CNTNAP2 Knockout Mouse.HSOA trends in anatomy and physiology · 2025Article
- Deficiency of FABP7 Triggers Premature Neural Differentiation in Idiopathic Normocephalic Autism Organoids.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Establishment of a standardized daily behavior collection and analysis system for brain disease models of rhesus and cynomolgus monkeys and its application in autism spectrum disorder.Journal of Zhejiang University. Science. B · 2024Article
- Autism Spectrum Disorder Pathogenesis-A Cross-Sectional Literature Review Emphasizing Molecular Aspects.International journal of molecular sciences · 2024Review
- Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.Genome research · 2024Article
- Neurobiology of cognitive abilities in early childhood autism.JCPP advances · 2024Article
- Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder.Children (Basel, Switzerland) · 2024Article
- Oxysterol Metabolism Balance as a Candidate Biomarker in Autism Spectrum Disorder.Journal of clinical practice and research · 2024Article
139 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The identification of the genetic components of autism spectrum disorders (ASDs) has advanced rapidly in recent years, particularly with the demonstration of de novo mutations as an important source of causality. We review these developments in light of genetic models for ASDs. We consider the number of genetic loci that underlie ASDs and the relative contributions from different mutational classes, and we discuss possible mechanisms by which these mutations might lead to dysfunction. We update the two-class risk genetic model for autism, especially in regard to children with high intelligence quotients.
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What OpenQuestion holds
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.