Similar articles for PMID: 33931761

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1

Evaluation of a computer-based facial dysmorphology analysis algorithm (Face2Gene) using standardized textbook photos.

Javitt MJ, Vanner EA, Grajewski AL, Chang TC. Javitt MJ, et al. Eye (Lond). 2022 Apr;36(4):859-861. doi: 10.1038/s41433-021-01563-5. Epub 2021 Apr 30. Eye (Lond). 2022. PMID: 33931761 Free PMC article.

2

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. Marwaha A, et al. Am J Med Genet A. 2021 Apr;185(4):1151-1158. doi: 10.1002/ajmg.a.62092. Epub 2021 Feb 8. Am J Med Genet A. 2021. PMID: 33554457

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. Pantel JT, et al. J Med Internet Res. 2020 Oct 22;22(10):e19263. doi: 10.2196/19263. J Med Internet Res. 2020. PMID: 33090109 Free PMC article.

4

Craniofacial features of 3q29 deletion syndrome: Application of next-generation phenotyping technology.

Mak BC, Sanchez Russo R, Gambello MJ, Fleischer N, Black ED, Leslie E, Murphy MM; Emory 3q29 Project; Mulle JG. Mak BC, et al. Am J Med Genet A. 2021 Jul;185(7):2094-2101. doi: 10.1002/ajmg.a.62227. Epub 2021 May 3. Am J Med Genet A. 2021. PMID: 33938623 Free PMC article.

5

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.

Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, Kosaki K. Mishima H, et al. J Hum Genet. 2019 Aug;64(8):789-794. doi: 10.1038/s10038-019-0619-z. Epub 2019 May 29. J Hum Genet. 2019. PMID: 31138847

6

Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application.

Srisraluang W, Rojnueangnit K. Srisraluang W, et al. Am J Med Genet A. 2021 Dec;185(12):3701-3705. doi: 10.1002/ajmg.a.62432. Epub 2021 Jul 21. Am J Med Genet A. 2021. PMID: 34288412

7

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, Deardoff MA. Basel-Vanagaite L, et al. Clin Genet. 2016 May;89(5):557-63. doi: 10.1111/cge.12716. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26663098

8

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053

9

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.

Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J. Latorre-Pellicer A, et al. Int J Mol Sci. 2020 Feb 4;21(3):1042. doi: 10.3390/ijms21031042. Int J Mol Sci. 2020. PMID: 32033219 Free PMC article.

10

Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.

Daykin E, Fleischer N, Abdelwahab M, Hassib N, Schiffmann R, Ryan E, Sidransky E. Daykin E, et al. Mol Genet Metab. 2021 Nov;134(3):274-280. doi: 10.1016/j.ymgme.2021.09.008. Epub 2021 Oct 5. Mol Genet Metab. 2021. PMID: 34663554

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