ReviewPsychological medicine2021
Genetic contributions to autism spectrum disorder.
Review in Psychological medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 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
103 citing papers in PubMed, 1 synthesis or guideline pooled it, 165 citations in OpenAlex.
- Neurometabolite differences in Autism as assessed with Magnetic Resonance Spectroscopy: A systematic review and meta-analysis.Neuroscience and biobehavioral reviews · 2024Pooled it
- Autologous cord bloodWorld journal of clinical pediatrics · 2025Trial
- Common genetic variants are associated with increased likelihood of latent co-occurring neurodevelopmental and mental health factors among autistic individuals.Molecular psychiatry · 2026Article
- Sex differences in 5-year incidence and prevalence of physical illnesses following early childhood autism diagnosis.JCPP advances · 2026Article
- Burden of Co-occurring Conditions and Perinatal Predictors of Epilepsy in Autism Spectrum Disorder: A Cross-Sectional Study of 1015 Children From Northwestern Mexico.Journal of autism and developmental disorders · 2026Article
- Development of a Metagenomics-Guided Personalized Synbiotic Protocol for Children with Autism Spectrum Disorder: An Exploratory Case Series.Nutrients · 2026Article
- Modeling rare coding variation on chromosome X provides insight into the genetics and differential sex prevalence of autism spectrum disorder.medRxiv : the preprint server for health sciences · 2026Article
- Maternal Thyroid Hormone Imbalance and Risk of Autism Spectrum Disorder.The Journal of clinical endocrinology and metabolism · 2026Article
- Placental dysfunction, inflammation, and impaired autophagy in preeclampsia: A pathophysiological link to autism spectrum disorder.Metabolic brain disease · 2026Review
- Knockdown of Ddx3x in mPFC induces autistic-like phenotype in mice via altered synaptic plasticity.Translational psychiatry · 2026Article
- The emerging role of gene therapy in autism spectrum disorder.Discover mental health · 2026Review
- Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
- Perinatal hyperandrogenization and immune activation in rodents model subtypes of autism.Translational psychiatry · 2026Article
- Dysregulation of miRNAs in Sicilian Patients with Autism Spectrum Disorder.Biomedicines · 2026Article
- Medical comorbidities in autistic children: prevalence, sex-specific clustering, and network patterns at diagnosis in a Chilean cohort.European journal of pediatrics · 2026Article
- Humanizing medical care for individuals with autism spectrum disorder and their families: the experience of healthcare support in the Comprehensive Medical Care Unit for individuals with ASD (AMITEA).Frontiers in psychology · 2026Article
- Nanotechnology-Driven Drug-Delivery Systems: Mechanistic Insights for Pediatric Autism Treatment in 2026.International journal of nanomedicine · 2026Review
- Targeted stool metabolomics suggests exploratory catecholamine- and tryptophan-linked metabolic features in autism spectrum disorder.Frontiers in neuroscience · 2026Article
- Distinct protein profiles in cord blood plasma of children with autism spectrum disorder.Scientific reports · 2025Article
43 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
6 authors at 6 institutions in 5 countries.
Funding
Abstract
Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental conditions characterized by early childhood-onset impairments in communication and social interaction alongside restricted and repetitive behaviors and interests. This review summarizes recent developments in human genetics research in autism, complemented by epigenetic and transcriptomic findings. The clinical heterogeneity of autism is mirrored by a complex genetic architecture involving several types of common and rare variants, ranging from point mutations to large copy number variants, and either inherited or spontaneous (de novo). More than 100 risk genes have been implicated by rare, often de novo, potentially damaging mutations in highly constrained genes. These account for substantial individual risk but a small proportion of the population risk. In contrast, most of the genetic risk is attributable to common inherited variants acting en masse, each individually with small effects. Studies have identified a handful of robustly associated common variants. Different risk genes converge on the same mechanisms, such as gene regulation and synaptic connectivity. These mechanisms are also implicated by genes that are epigenetically and transcriptionally dysregulated in autism. Major challenges to understanding the biological mechanisms include substantial phenotypic heterogeneity, large locus heterogeneity, variable penetrance, and widespread pleiotropy. Considerable increases in sample sizes are needed to better understand the hundreds or thousands of common and rare genetic variants involved. Future research should integrate common and rare variant research, multi-omics data including genomics, epigenomics, and transcriptomics, and refined phenotype assessment with multidimensional and longitudinal measures.
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.