This paper is in the following e-collection/theme issue:

New Methods (1134) Digital Biomarkers and Digital Phenotyping (283) Imaging Informatics (302) Machine Learning (2074) Data Science (357) Artificial Intelligence (2123)

Published on in Vol 26 (2024)

This is a member publication of Charite - Universitaetsmedizin Berlin, Medizinische Bibliothek, Germany

Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/42904, first published .
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study

Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study

Authors of this article:

Alisa Maria Vittoria Reiter1 Author Orcid Image ;   Jean Tori Pantel1, 2, 3 Author Orcid Image ;   Magdalena Danyel1, 4, 5 Author Orcid Image ;   Denise Horn1 Author Orcid Image ;   Claus-Eric Ott1 Author Orcid Image ;   Martin Atta Mensah1, 6 Author Orcid Image
Article Authors Cited by (10) Tweetations (11) Metrics

Journals

  1. Pascolini G, Scaglione G, Chandramouli B, Castiglia D, Di Zenzo G, Didona B. Broadening the PHIP-Associated Neurodevelopmental Phenotype. Children 2024;11(11):1395 View
  2. Nishimura S, Ma C, Sidransky E, Ryan E. Obstacles to Early Diagnosis of Gaucher Disease. Therapeutics and Clinical Risk Management 2025;Volume 21:93 View
  3. Pascolini G, Didona D, Tarani L. An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients. Diagnostics 2025;15(5):521 View
  4. Guleria A, Krishan K, Sharma V. Assessment of facial and nasal phenotypes: Implications in forensic facial reconstruction. Archives of Biological Sciences 2025;77(1):61 View
  5. Makay P, Mubungu G, Lukusa Tshilobo P, Devriendt K, Lumaka A. Automated Evaluation of D‐Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders. Annals of Human Genetics 2025;89(4):228 View
  6. Wenderott K, Krups J, Zaruchas F, Krawitz P, Weigl M, Lesmann H. Workflow analysis and evaluation of a next-generation phenotyping tool: A qualitative study of Face2Gene. European Journal of Human Genetics 2025;33(10):1333 View
  7. del Rincón J, Gil-Salvador M, Lucia-Campos C, Acero L, Trujillano L, Arnedo M, Pamplona P, Ayerza-Casas A, Puisac B, Ramos F, Pié J, Latorre-Pellicer A. AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes. International Journal of Molecular Sciences 2025;26(16):7964 View
  8. Gripp K. Artificial intelligence supported facial feature analysis in medical genetics. Current Opinion in Pediatrics 2025;37(6):533 View
  9. Gupta S, Bawa P, Kumari A, Panigrahi I, Srivastava P, Kaur A. Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort. European Journal of Medical Genetics 2025;78:105063 View

Books/Policy Documents

  1. Crimi M. The Digital Doctor. View