ReviewAnnual review of genomics and human genetics2022
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology.
Review in Annual review of genomics and human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Gene expression dynamics of human and mouse craniofacial development at the single-cell level.Nature communications · 2026Article
- Epigenetic and polygenic contributions to body mass index: a validation study of predictive models.Clinical epigenetics · 2026Article
- Leveraging the genetics of human face shape boosts the discovery of orofacial cleft risk loci.medRxiv : the preprint server for health sciences · 2026Article
- Shape information used for face identity and expression recognition is highly versatile and context specific.Scientific reports · 2026Article
- Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives.Genes · 2026Review
- 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
- Craniofacial-specific transcriptomics uncovers novel genes underlying jaw divergence in dietary specialist pupfishes.Genetics · 2025Article
- Comparative study of fetal facial shape between Japanese and North American populations using micro-CT.Scientific reports · 2025Article
- Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development.Development (Cambridge, England) · 2025Article
- Expanding the Genetic Landscape of Craniofacial Anomalies Through Transcriptome-Wide Association Studies.Research square · 2025Article
- Accelerated evolution increased craniofacial divergence between humans and great apes.Proceedings. Biological sciences · 2025Article
- Interplay of polymorphisms in sex hormone receptors and facial sexual differentiation in shaping prosocial behavior.Scientific reports · 2025Article
- Optimized phenotyping of complex morphological traits: enhancing discovery of common and rare genetic variants.Briefings in bioinformatics · 2025Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
- Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.Nature communications · 2024Article
- Mapping genes for human face shape: Exploration of univariate phenotyping strategies.PLoS computational biology · 2024Article
- A novel approach to craniofacial analysis using automated 3D landmarking of the skull.Scientific reports · 2024Article
- A commoneLife · 2024Article
- Automated 3D Landmarking of the Skull: A Novel Approach for Craniofacial Analysis.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
Variations in the form of the human face, which plays a role in our individual identities and societal interactions, have fascinated scientists and artists alike. Here, we review our current understanding of the genetics underlying variation in craniofacial morphology and disease-associated dysmorphology, synthesizing decades of progress on Mendelian syndromes in addition to more recent results from genome-wide association studies of human facial shape and disease risk. We also discuss the various approaches used to phenotype and quantify facial shape, which are of particular importance due to the complex, multipartite nature of the craniofacial form. We close by discussing how experimental studies have contributed and will further contribute to our understanding of human genetic variation and then proposing future directions and applications for the field.
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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.