ArticleCell reports2019
Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development.
Article in Cell reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
What it found
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Who cites it
31 citing papers in PubMed.
- Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2026Review
- Review
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- Article
- Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.medRxiv : the preprint server for health sciences · 2025Article
- A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Association between rare, genetic variants linked to autism and ultrasonography fetal anomalies in children with autism spectrum disorder.Journal of neurodevelopmental disorders · 2024Article
- Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.Frontiers in pharmacology · 2024Review
- Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.Genome biology · 2023Article
- Mechanisms of copy number variants in neuropsychiatric disorders: From genes to therapeutics.Current opinion in neurobiology · 2023Review
- Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion.BMC neuroscience · 2023Article
- Day-to-day spontaneous social behaviours is quantitatively and qualitatively affected in a 16p11.2 deletion mouse model.Frontiers in behavioral neuroscience · 2023Article
- Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders.Frontiers in neuroscience · 2023Article
- Association between ultrasonography foetal anomalies and autism spectrum disorder.Brain : a journal of neurology · 2022Article
- 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.Disease models & mechanisms · 2022Article
- Rare variants and the oligogenic architecture of autism.Trends in genetics : TIG · 2022Review
- Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.American journal of human genetics · 2022Review
- Clinical Implications of Chromosome 16 Copy Number Variation.Molecular syndromology · 2022Article
- Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.Molecular psychiatry · 2021Article
Corrections and comments
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Authors and funding
19 authors.
Funding
Abstract
A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic mechanisms that underlie these associations are not understood. To determine the influence of 16p11.2 genes on development, we investigated the effects of CNV on craniofacial structure in humans and model organisms. We show that deletion and duplication of 16p11.2 have "mirror" effects on specific craniofacial features that are conserved between human and rodent models of the CNV. By testing dosage effects of individual genes on the shape of the mandible in zebrafish, we identify seven genes with significant effects individually and find evidence for others when genes were tested in combination. The craniofacial phenotypes of 16p11.2 CNVs represent a model for studying the effects of genes on development, and our results suggest that the associated facial gestalts are attributable to the combined effects of multiple genes.
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