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

Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India

(2020) Veronica Arora et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Shared facial phenotype of patients with mucolipidosis type IV: A clinical observation reaffirmed by next generation phenotyping

(2020) Ben Pode-Shakked et al.   European Journal of Medical Genetics

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

(2020) Giulia Pascolini et al.   NEUROLOGICAL SCIENCES

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

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

(2019) Kavitha Rethanavelu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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