These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. Dudding-Byth T; Baxter A; Holliday EG; Hackett A; O'Donnell S; White SM; Attia J; Brunner H; de Vries B; Koolen D; Kleefstra T; Ratwatte S; Riveros C; Brain S; Lovell BC BMC Biotechnol; 2017 Dec; 17(1):90. PubMed ID: 29258477 [TBL] [Abstract][Full Text] [Related]
3. Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Pantel JT; Hajjir N; Danyel M; Elsner J; Abad-Perez AT; Hansen P; Mundlos S; Spielmann M; Horn D; Ott CE; Mensah MA J Med Internet Res; 2020 Oct; 22(10):e19263. PubMed ID: 33090109 [TBL] [Abstract][Full Text] [Related]
4. GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts. Wu D; Yang J; Liu C; Hsieh TC; Marchi E; Blair J; Krawitz P; Weng C; Chung W; Lyon GJ; Krantz ID; Kalish JM; Wang K ArXiv; 2024 Apr; ():. PubMed ID: 38711434 [TBL] [Abstract][Full Text] [Related]
5. [Artificial intelligence in the diagnosis of rare disorders: the development of phenotype analysis]. Krawitz PM Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2022 Nov; 65(11):1159-1163. PubMed ID: 36278975 [TBL] [Abstract][Full Text] [Related]
10. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. van der Donk R; Jansen S; Schuurs-Hoeijmakers JHM; Koolen DA; Goltstein LCMJ; Hoischen A; Brunner HG; Kemmeren P; Nellåker C; Vissers LELM; de Vries BBA; Hehir-Kwa JY Genet Med; 2019 Aug; 21(8):1719-1725. PubMed ID: 30568311 [TBL] [Abstract][Full Text] [Related]
11. Application of deep learning artificial intelligence technique to the classification of clinical orthodontic photos. Ryu J; Lee YS; Mo SP; Lim K; Jung SK; Kim TW BMC Oral Health; 2022 Oct; 22(1):454. PubMed ID: 36284294 [TBL] [Abstract][Full Text] [Related]
12. Biomedical visual data analysis to build an intelligent diagnostic decision support system in medical genetics. Kuru K; Niranjan M; Tunca Y; Osvank E; Azim T Artif Intell Med; 2014 Oct; 62(2):105-18. PubMed ID: 25262492 [TBL] [Abstract][Full Text] [Related]
13. The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning. Marwaha A; Chitayat D; Meyn MS; Mendoza-Londono R; Chad L Am J Med Genet A; 2021 Apr; 185(4):1151-1158. PubMed ID: 33554457 [TBL] [Abstract][Full Text] [Related]
14. Identifying facial phenotypes of genetic disorders using deep learning. Gurovich Y; Hanani Y; Bar O; Nadav G; Fleischer N; Gelbman D; Basel-Salmon L; Krawitz PM; Kamphausen SB; Zenker M; Bird LM; Gripp KW Nat Med; 2019 Jan; 25(1):60-64. PubMed ID: 30617323 [TBL] [Abstract][Full Text] [Related]
15. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Dingemans AJM; Hinne M; Truijen KMG; Goltstein L; van Reeuwijk J; de Leeuw N; Schuurs-Hoeijmakers J; Pfundt R; Diets IJ; den Hoed J; de Boer E; Coenen-van der Spek J; Jansen S; van Bon BW; Jonis N; Ockeloen CW; Vulto-van Silfhout AT; Kleefstra T; Koolen DA; Campeau PM; Palmer EE; Van Esch H; Lyon GJ; Alkuraya FS; Rauch A; Marom R; Baralle D; van der Sluijs PJ; Santen GWE; Kooy RF; van Gerven MAJ; Vissers LELM; de Vries BBA Nat Genet; 2023 Sep; 55(9):1598-1607. PubMed ID: 37550531 [TBL] [Abstract][Full Text] [Related]
16. The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping. Marbach F; Rustad CF; Riess A; Đukić D; Hsieh TC; Jobani I; Prescott T; Bevot A; Erger F; Houge G; Redfors M; Altmueller J; Stokowy T; Gilissen C; Kubisch C; Scarano E; Mazzanti L; Fiskerstrand T; Krawitz PM; Lessel D; Netzer C Am J Hum Genet; 2019 Apr; 104(4):749-757. PubMed ID: 30905398 [TBL] [Abstract][Full Text] [Related]
17. Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study. Reiter AMV; Pantel JT; Danyel M; Horn D; Ott CE; Mensah MA J Med Internet Res; 2024 Mar; 26():e42904. PubMed ID: 38477981 [TBL] [Abstract][Full Text] [Related]
18. Diagnostic performance of artificial intelligence to detect genetic diseases with facial phenotypes: A protocol for systematic review and meta analysis. Qin B; Quan Q; Wu J; Liang L; Li D Medicine (Baltimore); 2020 Jul; 99(27):e20989. PubMed ID: 32629715 [TBL] [Abstract][Full Text] [Related]
19. Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. Dingemans AJM; Stremmelaar DE; van der Donk R; Vissers LELM; Koolen DA; Rump P; Hehir-Kwa JY; de Vries BBA Eur J Hum Genet; 2021 Sep; 29(9):1418-1423. PubMed ID: 33603161 [TBL] [Abstract][Full Text] [Related]