ArticleNature medicine2019
Identifying facial phenotypes of genetic disorders using deep learning.
Article in Nature medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 306 papers, 6 of them syntheses that pooled it.
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
306 citing papers in PubMed, 6 syntheses or guidelines pooled it, 710 citations in OpenAlex.
- A systematic review on the generative AI applications in human medical genetics.Frontiers in genetics · 2025Pooled it
- Machine learning models including patient-reported outcome data in oncology: a systematic literature review and analysis of their reporting quality.Journal of patient-reported outcomes · 2024Pooled it
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- [Short paths to diagnosis with artificial intelligence: systematic literature review on diagnostic decision support systems].Schmerz (Berlin, Germany) · 2024Pooled it
- Use of Deep Neural Networks in the Detection and Automated Classification of Lesions Using Clinical Images in Ophthalmology, Dermatology, and Oral Medicine-A Systematic Review.Journal of digital imaging · 2023Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- A Facial Foundation Model for Clinical Biomarker Prediction and Real-World Mobile Deployment.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Artificial Intelligence in Neuromuscular Diseases: Opportunities for a Data-Scarce Field.Neurology and therapy · 2026Review
- Early identification of Prader-Willi syndrome in newborns using facial phenotype-based machine learning.Pediatric research · 2026Article
- Artificial Intelligence in Pediatric Cardiovascular Genetics: From Multimodal Diagnosis to Risk Prediction and Precision Therapeutics.International journal of molecular sciences · 2026Review
- 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
- Machine Learning, Large Language Models, and Multimodal AI for Diagnosing Pediatric Rare Diseases: Scoping Review.Journal of medical Internet research · 2026Article
- Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.European journal of human genetics : EJHG · 2026Article
- Multi-modal AI-enabled steatotic liver disease diagnostics using facial images and metabolomics.Cell reports. Medicine · 2026Article
- DeepFaceMouse enables scalable prediction of large-scale brain activity from facial dynamics in mice.Cell reports methods · 2026Article
- Multimodal integrated knowledge transfer to large language models through preference optimization with biomedical applications.Patterns (New York, N.Y.) · 2026Article
- Initial-Visit Specialty Triage in Rare Diseases Using Large Language Models: Retrospective Benchmarking Study.Journal of medical Internet research · 2026Article
- Artificial intelligence for pediatric rare disease diagnosis: a multimethod study integrating published evidence and clinician interviews.BMC medical informatics and decision making · 2026Article
- Automatic acromegaly detection using deep learning on hand images: a multicenter observational study.The Journal of clinical endocrinology and metabolism · 2026Observational
- Facial phenotypes in Alzheimer's disease: from neurobiology to artificial intelligence.Alzheimer's research & therapy · 2026Review
246 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
12 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Syndromic genetic conditions, in aggregate, affect 8% of the population
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.