ArticleNeuron2013
Using whole-exome sequencing to identify inherited causes of autism.
Article in Neuron, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 248 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
248 citing papers in PubMed, 3 syntheses or guidelines pooled it, 457 citations in OpenAlex.
- Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities.Genome biology · 2016Pooled it
- Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research.Pediatrics · 2015Guideline
- An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders.Biological psychiatry · 2015Pooled it
- Phenotypic Complexity and Diagnostic Utility of Exome Sequencing in ASD: Real-World Insights from Colombia.International journal of molecular sciences · 2026Article
- Autism Spectrum Disorder-Associated Genes Enrich in Discrete Cortical, Limbic and Cerebellar Brain Regions.The European journal of neuroscience · 2026Article
- Landscape of copy number variants in Spanish people with dementia.NPJ genomic medicine · 2026Article
- Neuro-regulator role of HCommunications biology · 2026Article
- In silico Genotype-Phenotype Correlation Analysis of Inherited Variations in Autism Spectrum Disorder Families Identify an Interplay between Sensory Function and Repetitive-behaviour Genes.Journal of molecular neuroscience : MN · 2026Article
- Sensory and developmental phenotyping ofbioRxiv : the preprint server for biology · 2026Article
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
- Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- Autism-Associated Gut Microbiota-DerivedPathogens (Basel, Switzerland) · 2025Article
- Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2025Article
- Review
- The Metabolic Signature of Autism Spectrum Disorders Using Dried Blood Spots at Birth.Psychiatry investigation · 2025Article
- Prosodic Differences in Women with theInternational journal of molecular sciences · 2025Article
- Review: Dopamine, Serotonin, and the Translational Neuroscience of Aggression in Autism Spectrum Disorder.JAACAP open · 2025Review
- Establishing a Mouse Model of NL3R617W-Associated Autism Spectrum Disorder for a Functional Study.Actas espanolas de psiquiatria · 2025Article
- Review
188 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
Authors and funding
49 authors at 20 institutions in 9 countries.
Funding
Abstract
Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1). At least some of these genes show biallelic mutations in nonconsanguineous families as well. These mutations are often only partially disabling or present atypically, with patients lacking diagnostic features of the Mendelian disorders with which these genes are classically associated. Our study shows the utility of WES for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs.
Indexed as
Identifiers
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.