ArticleProceedings of the National Academy of Sciences of the United States of America2022
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
What it found
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Who cites it
55 citing papers in PubMed, 67 citations in OpenAlex.
- Evidence supporting the role of GIGYF2 in synapse development and autism.Molecular psychiatry · 2026Article
- Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication.Molecular psychiatry · 2026Article
- Lithium chloride in vitro treatment shows potential to rescue the neuronal phenotype caused by WDFY3 haploinsufficiency.Molecular psychiatry · 2026Article
- Article
- Genomic landscape of rare variants in a Chinese autism cohort and discovery of novel risk genes.Molecular psychiatry · 2026Article
- Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency.Science advances · 2026Article
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Shared and distinct phenotypic profiles among neurodevelopmental disorder genes.medRxiv : the preprint server for health sciences · 2026Article
- Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence.Biomolecules · 2026Article
- Genetic Testing History in Adults With Autism Spectrum Disorder.Journal of autism and developmental disorders · 2026Article
- A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.Annals of clinical and translational neurology · 2026Article
- Multi-omics Differential Inference for Functional Interpretation (MoDIFI): A Statistical Framework to Prioritize Cell Lines for Neurodevelopmental Variants.bioRxiv : the preprint server for biology · 2026Article
- Using the linear references from the pangenome to discover missing autism variants.Nature communications · 2026Article
- Circadian Clock Dysfunction Exacerbate Autistic-Like Behaviour and Wnt/β-Catenin Signalling Dysregulation in ASD Mice and Treatment of Melatonin.Journal of cellular and molecular medicine · 2026Article
- A novelExperimental biology and medicine (Maywood, N.J.) · 2026Article
- Degraded sensory coding in a mouse model ofbioRxiv : the preprint server for biology · 2025Article
- A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus.bioRxiv : the preprint server for biology · 2025Article
- The inactive X chromosome as a female protector in autism and beyond.Research square · 2025Article
- Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.bioRxiv : the preprint server for biology · 2025Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 3 countries.
Funding
Abstract
Most genetic studies consider autism spectrum disorder (ASD) and developmental disorder (DD) separately despite overwhelming comorbidity and shared genetic etiology. Here, we analyzed de novo variants (DNVs) from 15,560 ASD (6,557 from SPARK) and 31,052 DD trios independently and also combined as broader neurodevelopmental disorders (NDDs) using three models. We identify 615 NDD candidate genes (false discovery rate [FDR] < 0.05) supported by ≥1 models, including 138 reaching Bonferroni exome-wide significance (
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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.