ArticleNPJ genomic medicine2024
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.
Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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
13 citing papers in PubMed.
- Autism Spectrum Disorder-Associated Genes Enrich in Discrete Cortical, Limbic and Cerebellar Brain Regions.The European journal of neuroscience · 2026Article
- Fetal MRI reveals altered prenatal cortical surface area in fetuses later diagnosed with autism spectrum disorder.bioRxiv : the preprint server for biology · 2026Article
- Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study.Children (Basel, Switzerland) · 2026Article
- ZMYM3 S464: a potential phospho-regulatory hub in epigenetic remodeling and oncogenesis.Molecular genetics and genomics : MGG · 2026Article
- GABAFrontiers in pharmacology · 2026Review
- Early trauma and psychotic experiences in autism: a neurodevelopmental framework integrating allostatic overload, symbolisation, and stress reactivity.Frontiers in psychiatry · 2026Article
- Ethno-evolutionary insights and missed critical periods hypothesis of Autism Spectrum Condition.Frontiers in child and adolescent psychiatry · 2026Article
- Molecular and Genetic Mechanisms in Autism Spectrum Disorder.Annals of neurology · 2025Review
- Article
- Autism Spectrum Disorder as a Multifactorial Disorder: The Interplay of Genetic Factors and Inflammation.International journal of molecular sciences · 2025Review
- Behavioral phenotyping identifies autism-like repetitive stereotypies in a Tsc2 haploinsufficient rat model.Behavioral and brain functions : BBF · 2025Article
- Review
- From Synaptic Plasticity to Neurodegeneration: BDNF as a Transformative Target in Medicine.International journal of molecular sciences · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorder (ASD) comprises neurodevelopmental disorders with wide variability in genetic causes and phenotypes, making it challenging to pinpoint causal genes. We performed whole exome sequencing on a modest, ancestrally diverse cohort of 195 families, including 754 individuals (222 with ASD), and identified 38,834 novel private variants. In 68 individuals with ASD (~30%), we identified 92 potentially pathogenic variants in 73 known genes, including BCORL1, CDKL5, CHAMP1, KAT6A, MECP2, and SETD1B. Additionally, we identified 158 potentially pathogenic variants in 120 candidate genes, including DLG3, GABRQ, KALRN, KCTD16, and SLC8A3. We also found 34 copy number variants in 31 individuals overlapping known ASD loci. Our work expands the catalog of ASD genetics by identifying hundreds of variants across diverse ancestral backgrounds, highlighting convergence on nervous system development and signal transduction. These findings provide insights into the genetic underpinnings of ASD and inform molecular diagnosis and potential therapeutic targets.
Identifiers
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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.