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

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

(2019) Hiroyuki Mishima et al.   JOURNAL OF HUMAN GENETICS

The phenotypic spectrum of Xia-Gibbs syndrome

(2018) Yunyun Jiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Natural history and genotype-phenotype correlations in 72 individuals with SATB2 -associated syndrome

(2018) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

(2018) Jean T. Pantel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recognizable phenotypes in CDG

(2018) Carlos R. Ferreira et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Studying Down syndrome recognition probabilities in Thai children with de-identified computer-aided facial analysis

(2018) Nattariya Vorravanpreecha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

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

(2016) L. Basel-Vanagaite et al.   CLINICAL GENETICS

Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications

(2015) Shino Shimada et al.   BRAIN & DEVELOPMENT