ReviewAmerican journal of human genetics2020
Insufficient Evidence for "Autism-Specific" Genes.
Review in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.
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
83 citing papers in PubMed.
- Elevated Rates of Gastrointestinal Dysfunction in Children with Neurodevelopmental Disabilities: Not Just an Autism Issue.medRxiv : the preprint server for health sciences · 2026Article
- Is There a Core Deficit in Autism Spectrum Disorder? An Analysis of CPEP-3 Assessment Data from 543 Children With Autism.Journal of autism and developmental disorders · 2026Article
- Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.Pediatric research · 2026Article
- Prenatal cell-free DNA methylome detects association with autism and maternal obesity.Communications biology · 2026Article
- Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models.Cell genomics · 2026Review
- Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026Article
- Effect of Alzheimer's disease medications on neurocognitive outcomes in children and adolescents with autism spectrum disorder and low IQ: a scoping review.Translational psychiatry · 2025Article
- Functional connectivity patterns differ as a function of co-occurring attentional problems in preschoolers with autism.Journal of neurodevelopmental disorders · 2025Article
- Review
- Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes.Nature neuroscience · 2025Article
- Single-cell technology grows up: Leveraging high-resolution omics approaches to understand neurodevelopmental disorders.Current opinion in neurobiology · 2025Review
- Limitations of genomics to predict and treat autism: a disorder born in the womb.Journal of medical genetics · 2025Review
- Cortical Thickness Differences in Autistic Children With and Without Intellectual Disability.Autism research : official journal of the International Society for Autism Research · 2025Article
- Atypical dynamic neural configuration in autism spectrum disorder and its relationship to gene expression profiles.European child & adolescent psychiatry · 2025Article
- Association of genetic variants, protein domains, and phenotypes in the ZMIZ1 syndromic neurodevelopmental disorder.Frontiers in neuroscience · 2025Article
- A computational cognitive neuroscience approach for characterizing individual differences in autism: Introduction to Special Issue.Personality neuroscience · 2025Article
- Motor phenotypes associated with genetic neurodevelopmental disorders.Annals of clinical and translational neurology · 2024Article
- Association between combined use of epidural analgesia and oxytocin administration during labor and offspring outcomes: a narrative review and proposal.Nagoya journal of medical science · 2024Review
- Observational
- 3-generation family histories of mental, neurologic, cardiometabolic, birth defect, asthma, allergy, and autoimmune conditions associated with autism: An open-source catalog of findings.Autism research : official journal of the International Society for Autism Research · 2024Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Despite evidence that deleterious variants in the same genes are implicated across multiple neurodevelopmental and neuropsychiatric disorders, there has been considerable interest in identifying genes that, when mutated, confer risk that is largely specific for autism spectrum disorder (ASD). Here, we review the findings and limitations of recent efforts to identify relatively "autism-specific" genes, efforts which focus on rare variants of large effect size that are thought to account for the observed phenotypes. We present a divergent interpretation of published evidence; discuss practical and theoretical issues related to studying the relationships between rare, large-effect deleterious variants and neurodevelopmental phenotypes; and describe potential future directions of this research. We argue that there is currently insufficient evidence to establish meaningful ASD specificity of any genes based on large-effect rare-variant data.
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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.