ReviewDialogues in clinical neuroscience2009
Multiple rare variants in the etiology of autism spectrum disorders.
Review in Dialogues in clinical neuroscience, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 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
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.
- CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches.Journal of neural transmission (Vienna, Austria : 1996) · 2016Pooled it
- PBRM1 Deficiency in Microglia Leads to Excessive Neurogenesis and Autism-Like Behaviors via the CCL5-CCR1/5-β-catenin Signaling Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Shank3 related oligodendrocyte alterations in autism are restored by Erk pathway inhibition.Molecular psychiatry · 2026Article
- Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score.JAACAP open · 2025Article
- miR-146A and miR-146B Promoter Methylation and Common Sequence Variations Are Not Likely to Be Involved in Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2025Article
- Inverting the Dominant Paradigm: Looking for Psychiatric Disorders in People With Metabolic Diseases.Biological psychiatry global open science · 2025Article
- Article
- Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs.Science advances · 2024Article
- Contributing to an autism biobank: Diverse perspectives from autistic participants, family members and researchers.Autism : the international journal of research and practice · 2024Article
- Oxytocin and its links through scientific lineage.Comprehensive psychoneuroendocrinology · 2024Article
- Landscape ofJournal of clinical medicine · 2024Review
- Global developmental delay and a de novo deletion of the 16p13.13 region.BMJ case reports · 2024Article
- Downregulation of mGluR1-mediated signaling underlying autistic-like core symptoms in Shank1 P1812L-knock-in mice.Translational psychiatry · 2023Article
- Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders.Journal of personalized medicine · 2023Article
- Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.JCPP advances · 2023Article
- Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex.Human genomics · 2023Article
- Physical Activity, Gut Microbiota, and Genetic Background for Children and Adolescents with Autism Spectrum Disorder.Children (Basel, Switzerland) · 2022Review
- Parental inflammatory bowel disease and autism in children.Nature medicine · 2022Article
- The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome andFrontiers in neuroscience · 2022Article
- Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.Journal of autism and developmental disorders · 2021Article
8 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
1 author at 1 institution in 1 country.
Funding
Abstract
Recent studies in autism spectrum disorders (ASDs) support an important role for multiple rare variants in these conditions. This is a clinically important finding, as, with the demonstration that a significant proportion of ASDs are the result of rare, etiological genetic variants, it becomes possible to make use of genetic testing to supplement behavioral analyses for an earlier diagnosis. As it appears that earlier interventions in ASDs will produce better outcomes, the development of genetic testing to augment behaviorally based evaluations in ASDs holds promise for improved treatment. Furthermore, these rare variants involve synaptic and neuronal genes that implicate specific pathways, cells, and subcellular compartments in ASDs, which in turn will suggest novel therapeutic approaches in ASDs. Of particular recent interest are the synaptic cell adhesion and associated molecules, including neurexin 1, neuroligin 3 and 4, and SHANK3, which implicate glutamatergic synapse abnormalities in ASDs. In the current review we will overview the evidence for a genetic etiology for ASDs, and summarize recent genetic findings in these disorders.
Indexed as
Identifiers
19432386PMC3181906W1553482582What 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.