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Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

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  1. Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, et al. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. J Hum Genet. 2019;64:789–94.

    Article  Google Scholar 

  2. Vorravanpreecha N, Lertboonnum T, Rodjanadit R, Sriplienchan P, Rojnueangnit K. Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis. Am J Med. Genet A. 2018;176:1935–40.

    Article  Google Scholar 

  3. Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D, et al. Identifying facial phenotypes of genetic disorders using deep learning. Nat Med 2019;25:60–64.

    Article  CAS  Google Scholar 

  4. Basel-Vanagaite L, Wolf L, Orin M, Larizza L, Gervasini C, Krantz ID, et al. Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis. Clin Genet. 2016;89:557–63.

    Article  CAS  Google Scholar 

  5. Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018;41:541–53.

    Article  CAS  Google Scholar 

  6. Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, et al. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018;176:1315–26.

    Article  CAS  Google Scholar 

  7. Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun A, et al. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018;176:925–35.

    Article  Google Scholar 

  8. Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, et al. Automatic recognition of the XLHED phenotype from facial images. Am J Med Genet A. 2017;173:2408–14.

    Article  CAS  Google Scholar 

  9. Liehr T, Acquarola N, Pyle K, St-Pierre S, Rinholm M, Bar O, et al. Next generation phenotyping in Emanuel and Pallister-Killian syndrome using computer-aided facial dysmorphology analysis of 2D photos. Clin Genet. 2018;93:378–81.

    Article  CAS  Google Scholar 

  10. Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, et al. Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. J Inherit Metab Dis. 2018;41:533–39.

    Article  Google Scholar 

  11. Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, et al. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications. Brain Dev. 2015;37:515–26.

    Article  Google Scholar 

  12. Hsieh, TC, Mensah, MA, Pantel, JT, Aguilar, D, Bar, O, Bayat, A et al. PEDIA: prioritization of exome data by image analysis. Genet Med. 2019. [Epub ahead of print].

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Correspondence to Yuri A. Zarate.

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KWG is a consultant to FDNA, the company offering the Face2Gene application.

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Zarate, Y.A., Bosanko, K.A. & Gripp, K.W. Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution. J Hum Genet 64, 1243–1245 (2019).

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