ArticleNeuron2013
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
Article in Neuron, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers, 1 of them a synthesis that pooled it.
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Who cites it
154 citing papers in PubMed, 1 synthesis or guideline pooled it, 279 citations in OpenAlex.
- Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders.Molecular psychiatry · 2017Pooled it
- Virus-Derived Domesticated Genes in Microglia and Resident Macrophages: Insights into Placenta-Driven Evolution in Mammals.International journal of molecular sciences · 2026Review
- Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes.Scientific reports · 2026Article
- Placenta-Driven Evolution: Viral Gene Acquisition andBiomolecules · 2026Review
- Genetic insights into autism spectrum disorder with intellectual disability: a regional population-based study from Northwest China.Frontiers in pediatrics · 2026Article
- Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
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- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.Scientific reports · 2025Article
- Lipidomic profiling of mouse brain and human neuron cultures reveals a role forScience translational medicine · 2025Article
- Targeting of retrovirus-derivedOpen biology · 2025Article
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- Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.International journal of molecular sciences · 2024Article
- Molecular diagnosis of 405 individuals with autism spectrum disorder.European journal of human genetics : EJHG · 2024Article
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- Improving long-term kidney allograft survival by rethinking HLA compatibility: from molecular matching to non-HLA genes.Frontiers in genetics · 2024Review
- Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD.Nature communications · 2023Article
- Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.International journal of molecular sciences · 2023Review
- Ankyrin B promotes developmental spine regulation in the mouse prefrontal cortex.Cerebral cortex (New York, N.Y. : 1991) · 2023Article
- Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.Genome medicine · 2023Article
- Retrovirus-DerivedInternational journal of molecular sciences · 2023Article
94 more citing papers are in PubMed but not listed here.
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41 authors at 13 institutions in 1 country.
Funding
Abstract
To characterize the role of rare complete human knockouts in autism spectrum disorders (ASDs), we identify genes with homozygous or compound heterozygous loss-of-function (LoF) variants (defined as nonsense and essential splice sites) from exome sequencing of 933 cases and 869 controls. We identify a 2-fold increase in complete knockouts of autosomal genes with low rates of LoF variation (≤ 5% frequency) in cases and estimate a 3% contribution to ASD risk by these events, confirming this observation in an independent set of 563 probands and 4,605 controls. Outside the pseudoautosomal regions on the X chromosome, we similarly observe a significant 1.5-fold increase in rare hemizygous knockouts in males, contributing to another 2% of ASDs in males. Taken together, these results provide compelling evidence that rare autosomal and X chromosome complete gene knockouts are important inherited risk factors for ASD.
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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.