ArticleNature genetics2021
Insights into the genetic architecture of the human face.
Article in Nature genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 3 of them syntheses that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
99 citing papers in PubMed, 3 syntheses or guidelines pooled it, 161 citations in OpenAlex.
- Genetic heterogeneity and homogeneity among orofacial cleft subtypes: genome-wide association studies in the cleft collective.Human molecular genetics · 2025Pooled it
- Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLoS genetics · 2023Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Genetic factor analysis for characterizing phenome-wide patterns of genetic pleiotropy.Nature genetics · 2026Article
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Human facial development atlas illuminates enhancer-based control of facial individuality.Nature genetics · 2026Article
- Three-dimensional facial gestalt analysis for three neurodevelopmental disorders: Koolen-de Vries, Jansen-de Vries and KBG syndrome.European journal of human genetics : EJHG · 2026Article
- Shared genetic basis and structure of syndromic and normal facial variation.American journal of human genetics · 2026Article
- Exploring the association between genetic polymorphisms in FGFR2 and children's facial morphology.Head & face medicine · 2026Article
- Craniofacial features and pathogenic variants in 1,252 children with neurodevelopmental disorders.BMC pediatrics · 2026Article
- Large-scale human genomic resources drive innovations toward forensic intelligent source attribution and precision identification.International journal of legal medicine · 2026Review
- A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.Developmental biology · 2026Article
- Clusters in craniofacial microsomia and microtia according to facial morphology and craniofacial anomalies.European journal of pediatrics · 2026Article
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci.medRxiv : the preprint server for health sciences · 2026Article
- Forensic genetics in the omics era.Nature reviews. Genetics · 2026Review
- PRDM paralogs are required for Meckel's cartilage formation during mandibular bone development.Developmental biology · 2026Article
- Genetic regulation of body size and morphology from adolescence to early adulthood.Pediatric research · 2026Article
- Comment on "De Novo Reconstruction of 3D Human Facial Images from DNA Sequence".Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Journal of medical genetics · 2026Article
39 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 11 institutions in 4 countries.
Funding
Abstract
The human face is complex and multipartite, and characterization of its genetic architecture remains challenging. Using a multivariate genome-wide association study meta-analysis of 8,246 European individuals, we identified 203 genome-wide-significant signals (120 also study-wide significant) associated with normal-range facial variation. Follow-up analyses indicate that the regions surrounding these signals are enriched for enhancer activity in cranial neural crest cells and craniofacial tissues, several regions harbor multiple signals with associations to different facial phenotypes, and there is evidence for potential coordinated actions of variants. In summary, our analyses provide insights into the understanding of how complex morphological traits are shaped by both individual and coordinated genetic actions.
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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.