ReviewNature communications2023
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Review in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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.
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Who cites it
24 citing papers in PubMed, 23 citations in OpenAlex.
- Morphological variations and differences of the mandible and midfacial skeleton across different sagittal skeletal patterns and sexes: a three-dimensional geometric morphometric analysis.Progress in orthodontics · 2026Article
- Human genetics across levels of biological organization.Nature reviews. Genetics · 2026Review
- Artificial intelligence for pediatric neuroimaging.Pediatric radiology · 2026Review
- Ancestry estimation: Methodological evolution and forensic implications.Forensic science, medicine, and pathology · 2026Review
- A decade of discovery: Leveraging genomic data in the ABCD study to illuminate adolescent neurodevelopment.Developmental cognitive neuroscience · 2026Review
- A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.Developmental biology · 2026Article
- Trends and insights in non-syndromic craniosynostosis research globally: a bibliometric analysis of the Web of Science database (2005-2024).Translational pediatrics · 2026Article
- The craniofacial shape of modern humans embodies genomic signatures of evolution, diversity, and clinical conditions.bioRxiv : the preprint server for biology · 2026Article
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 2025Article
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 2025Article
- Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.Nature communications · 2025Article
- Beyond volume: Unraveling the genetics of human brain geometry.Science advances · 2025Article
- Exploring the association between SNPs and facial morphology in a Spanish population.Scientific reports · 2025Article
- Non-syndromic craniosynostosis.Nature reviews. Disease primers · 2025Review
- Enhanced insights into the genetic architecture of 3D cranial vault shape using pleiotropy-informed GWAS.Communications biology · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
- Genome scan reveals several loci associated with torus palatinus.Orthodontics & craniofacial research · 2025Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.Nature communications · 2024Article
- A novel approach to craniofacial analysis using automated 3D landmarking of the skull.Scientific reports · 2024Article
- Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
20 authors at 12 institutions in 4 countries.
Funding
Abstract
The cranial vault in humans is highly variable, clinically relevant, and heritable, yet its genetic architecture remains poorly understood. Here, we conduct a joint multi-ancestry and admixed multivariate genome-wide association study on 3D cranial vault shape extracted from magnetic resonance images of 6772 children from the ABCD study cohort yielding 30 genome-wide significant loci. Follow-up analyses indicate that these loci overlap with genomic risk loci for sagittal craniosynostosis, show elevated activity cranial neural crest cells, are enriched for processes related to skeletal development, and are shared with the face and brain. We present supporting evidence of regional localization for several of the identified genes based on expression patterns in the cranial vault bones of E15.5 mice. Overall, our study provides a comprehensive overview of the genetics underlying normal-range cranial vault shape and its relevance for understanding modern human craniofacial diversity and the etiology of congenital malformations.
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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.