ArticleScience (New York, N.Y.)2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Article in Science (New York, N.Y.), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 749 papers, 1 of them a synthesis that pooled it.
What it found
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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
749 citing papers in PubMed, 1 synthesis or guideline pooled it, 1,283 citations in OpenAlex.
- Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.Journal of neurodevelopmental disorders · 2022Pooled it
- Evidence supporting the role of GIGYF2 in synapse development and autism.Molecular psychiatry · 2026Article
- Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.American journal of human genetics · 2026Article
- Homozygous CHD8 mutation intensifies ASD phenotypes and attenuates sex differences.Molecular psychiatry · 2026Article
- Proteome-wide identification of the druggable CRBN interactome.Nature biotechnology · 2026Article
- An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.European journal of human genetics : EJHG · 2026Article
- The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.Human genetics · 2026Article
- Identification of Peripheral Blood mIR-128-3p Molecular Signature in Children with Autism Spectrum Disorder.Balkan journal of medical genetics : BJMG · 2026Article
- Genetic alterations in SUPT6H are associated with neurodevelopmental disorders.Biochimica et biophysica acta. Molecular basis of disease · 2026Article
- Defective ventral neurogenesis due to midfetal Chd8 mutation drives autistic-like behavior in mice.Nature communications · 2026Article
- Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency.Science advances · 2026Article
- Offspring genetic diversity regulates rearing experiences that predict differential susceptibility to Chd8 haploinsufficiency.Communications biology · 2026Article
- Interplay between DYRK1A dosage and aneuploidy-induced neuropathology in Down syndrome.Communications biology · 2026Article
- Article
- A scalable approach to resolving variants of uncertain significance.bioRxiv : the preprint server for biology · 2026Article
- Article
- BRD1 haploinsufficiency alters early neuronal programming and disrupts maturation in human induced glutamatergic neurons.Research square · 2026Article
- Effects of Spin4 ablation in aging mice: body composition, bone density, and malignancy prevalence.bioRxiv : the preprint server for biology · 2026Article
- Two cases of TBL1XR1 heterozygous variants in children: a new splicing site variant identification and functional analysis through molecular docking and molecular dynamics simulation.Human genomics · 2025Article
- Molecular and Genetic Mechanisms in Autism Spectrum Disorder.Annals of neurology · 2025Review
689 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 2 institutions in 1 country.
Funding
Abstract
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed a modified molecular inversion probe method enabling ultra-low-cost candidate gene resequencing in very large cohorts. To demonstrate the power of this approach, we captured and sequenced 44 candidate genes in 2446 ASD probands. We discovered 27 de novo events in 16 genes, 59% of which are predicted to truncate proteins or disrupt splicing. We estimate that recurrent disruptive mutations in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs. Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a β-catenin-chromatin-remodeling network to ASD etiology.
Indexed as
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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.