ArticleNeuron2012
De novo gene disruptions in children on the autistic spectrum.
Article in Neuron, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 902 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
902 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities.Translational psychiatry · 2022Pooled it
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- Aberrant Neural Entrainment to Word-Level Speech Patterns in Fragile X Syndrome: Evidence for a Statistical Learning Deficit.Autism research : official journal of the International Society for Autism Research · 2026Article
- A Novel Variant of theGenes · 2026Article
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- Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models.Molecular psychiatry · 2026Article
- The Zinc-Finger Protein POGZ Associates with Polycomb Repressive Complex 1 to Regulate Bone Morphogenetic Protein Signaling During Neuronal Differentiation.Stem cell reviews and reports · 2026Article
- The emerging role of gene therapy in autism spectrum disorder.Discover mental health · 2026Review
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- Selective Isolation of TOP3B•mRNA Covalent Intermediates Using Denaturing Oligo-dT Pulldown.Bio-protocol · 2026Article
- Histone demethylase PHF2 regulates inflammatory genes in Alzheimer's disease.Molecular psychiatry · 2026Article
- Longitudinal Characterization of GiantResearch (Washington, D.C.) · 2026Article
- Primary cilia as a molecular convergence hub linking neurodevelopment and autism spectrum disorder.Frontiers in cellular neuroscience · 2026Review
- Clinical immunology in chromatinopathies: a scoping review.Frontiers in immunology · 2026Article
- A De Novo Loss-of-FunctionChildren (Basel, Switzerland) · 2025Article
842 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors.
Funding
Abstract
Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We do not see significantly greater numbers of de novo missense mutations in affected versus unaffected children, but gene-disrupting mutations (nonsense, splice site, and frame shifts) are twice as frequent, 59 to 28. Based on this differential and the number of recurrent and total targets of gene disruption found in our and similar studies, we estimate between 350 and 400 autism susceptibility genes. Many of the disrupted genes in these studies are associated with the fragile X protein, FMRP, reinforcing links between autism and synaptic plasticity. We find FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.
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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.