Subscribe to Journal
Get full journal access for 1 year
only $37.50 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
All prices are NET prices.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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].
Conflict of interest
KWG is a consultant to FDNA, the company offering the Face2Gene application.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.