ReviewHuman mutation2012
Large-scale objective phenotyping of 3D facial morphology.
Review in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
51 citing papers in PubMed.
- Early identification of Prader-Willi syndrome in newborns using facial phenotype-based machine learning.Pediatric research · 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
- BabyFlow: 3D modeling of realistic and expressive infant faces.Scientific reports · 2026Article
- Unlocking 3D baby face photogrammetry: Multi-view BabyMorph reconstruction from uncalibrated photographs.Expert systems with applications · 2026Article
- Craniofacial Dysmorphology Associated With Phelan-McDermid Syndrome Using Three-Dimensional Morphometrics.Clinical genetics · 2026Article
- Assessing the application of landmark-free morphometrics to macroevolutionary analyses.BMC ecology and evolution · 2025Article
- Examining the Neurodevelopmental Impact of Sonic Hedgehog Pathway Inhibition in Mice.Birth defects research · 2025Article
- Three-Dimensional Geometric Morphometric Characterization of Facial Sexual Dimorphism in Juveniles.Diagnostics (Basel, Switzerland) · 2025Article
- A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder.IEEE access : practical innovations, open solutions · 2025Article
- 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
- Automated 3D Landmarking of the Skull: A Novel Approach for Craniofacial Analysis.bioRxiv : the preprint server for biology · 2024Article
- Using data-driven phenotyping to investigate the impact of sex on 3D human facial surface morphology.Journal of anatomy · 2023Article
- Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.Scientific reports · 2023Article
- Detecting 3D syndromic faces as outliers using unsupervised normalizing flow models.Artificial intelligence in medicine · 2022Article
- Refining nosology by modelling variation among facial phenotypes: the RASopathies.Journal of medical genetics · 2022Article
- A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis.IEEE journal of biomedical and health informatics · 2022Article
- Invited Perspective: Using Facial Features as an Endophenotypic Marker of Susceptibility to Environmental Exposures.Environmental health perspectives · 2022Article
- Automatic 3D dense phenotyping provides reliable and accurate shape quantification of the human mandible.Scientific reports · 2021Article
- Increased facial asymmetry in focal epilepsies associated with unilateral lesions.Brain communications · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Abnormal phenotypes have played significant roles in the discovery of gene function, but organized collection of phenotype data has been overshadowed by developments in sequencing technology. In order to study phenotypes systematically, large-scale projects with standardized objective assessment across populations are considered necessary. The report of the 2006 Human Variome Project meeting (Cotton et al, 2007) recommended documentation of phenotypes through electronic means by collaborative groups of computational scientists and clinicians using standard, structured descriptions of disease-specific phenotypes. In this report, we describe progress over the past decade in three-dimensional (3D) digital imaging and shape analysis of the face, and future prospects for large-scale facial phenotyping. Illustrative examples are given throughout using a collection of 1,107 3D face images of healthy controls and individuals with a range of genetic conditions involving facial dysmorphism.
Indexed as
Identifiers
What OpenQuestion holds
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.