Application of the Face2Gene tool in an Italian dysmorphological pediatric clinic: Retrospective validation and future perspectives

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

(2022) Tzung-Chien Hsieh et al.   NATURE GENETICS

The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning

(2021) Ashish Marwaha et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2020) Ana Latorre-Pellicer et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

(2020) Jean Tori Pantel et al.   JOURNAL OF MEDICAL INTERNET RESEARCH

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

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

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

(2019) Yuri A. Zarate et al.   JOURNAL OF HUMAN GENETICS

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children

(2019) Dhanya Lakshmi Narayanan et al.   INDIAN PEDIATRICS

Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR

(2018) Trevor Richter et al.   Orphanet Journal of Rare Diseases

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

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

(2018) Antonio Martinez-Monseny et al.   JOURNAL OF MEDICAL GENETICS

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

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

(2009) Sebastian Köhler et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic studies of craniofacial anomalies: clinical implications and applications

(2009) TC Hart et al.   Orthodontics & Craniofacial Research