ArticleNPJ genomic medicine2019
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers, 3 of them syntheses that pooled it.
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Who cites it
161 citing papers in PubMed, 3 syntheses or guidelines pooled it, 267 citations in OpenAlex.
- Uncovering convergence and divergence between autism and schizophrenia using genomic tools and patients' neurons.Molecular psychiatry · 2025Pooled it
- Pooled it
- Potential of Salivary Biomarkers in Autism Research: A Systematic Review.International journal of molecular sciences · 2021Pooled it
- Broader autism phenotype, the default mode network, and brain entropy: A network-level hypothesis.Research in neurodiversity · 2026Article
- Genome-wide analysis of social behaviour across social domains, reporters and developmental stages: a meta-regression approach.Nature human behaviour · 2026Article
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Long-read proteogenomic atlas of human neuronal differentiation reveals isoform diversity informing neurodevelopmental risk mechanisms.Nature communications · 2026Article
- Further characterization of the BRSK2-associated neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at Columbia University.Pediatric research · 2026Article
- Bayesian Factor Analysis for Binary and Ordinal Phenotypes with Missingness.bioRxiv : the preprint server for biology · 2026Article
- Single-cell profiling of DNA methylation in autism spectrum disorder prefrontal cortex reveals distinct regulatory and aging signatures.Cell genomics · 2026Article
- Decomposing the genetic risk of autism spectrum disorder into discrete molecular subtypes underlie clinical heterogeneity based on transcriptome profile.Journal of translational medicine · 2026Article
- Histone H1 variants regulate neurodevelopmental transcriptional programs in autism with 16p11.2 deletion.Genome biology · 2026Article
- Emotion regulation and self-inhibition's association with mental health outcomes, caregiver strain, and well-being in parents of autistic children: a dyadic analysis.Journal of neurodevelopmental disorders · 2026Article
- Sh3rf3 Deficiency drives autism-like behaviors via presynaptic dysfunction in mice.Molecular psychiatry · 2026Article
- Article
- Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye.Genes · 2026Article
- Article
- New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.NPJ genomic medicine · 2026Article
- Role and Impact of theInternational journal of molecular sciences · 2026Article
101 more citing papers are in PubMed but not listed here.
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Authors and funding
19 authors at 20 institutions in 1 country.
Funding
Abstract
Autism spectrum disorder (ASD) is a genetically heterogeneous condition, caused by a combination of rare de novo and inherited variants as well as common variants in at least several hundred genes. However, significantly larger sample sizes are needed to identify the complete set of genetic risk factors. We conducted a pilot study for SPARK (SPARKForAutism.org) of 457 families with ASD, all consented online. Whole exome sequencing (WES) and genotyping data were generated for each family using DNA from saliva. We identified variants in genes and loci that are clinically recognized causes or significant contributors to ASD in 10.4% of families without previous genetic findings. In addition, we identified variants that are possibly associated with ASD in an additional 3.4% of families. A meta-analysis using the TADA framework at a false discovery rate (FDR) of 0.1 provides statistical support for 26 ASD risk genes. While most of these genes are already known ASD risk genes,
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