ArticleNature communications2024
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- Measuring sexual dimorphism in human faces.Journal of anatomy · 2026Article
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Journal of medical genetics · 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
- Single cell spatial transcriptomics links Wnt signaling disruption to extracellular matrix development in a cleft palate model.Scientific reports · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
- Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.Genetics in medicine open · 2025Article
- Mapping genes for human face shape: Exploration of univariate phenotyping strategies.PLoS computational biology · 2024Article
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17 authors.
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Abstract
Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the general population. We compare three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores. Multivariate GWAS of the control scores reveals a polygenic basis for facial variation along an achondroplasia-specific shape axis, identifying genes primarily involved in skeletal development. Jointly modeling these genes in two independent control samples, both human and mouse, shows craniofacial effects approximating the characteristic achondroplasia phenotype. These findings suggest that both complex and Mendelian genetic variation act on the same developmentally determined axes of facial variation, providing insights into the genetic intersection of complex traits and Mendelian disorders.
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