Identifying facial phenotypes of genetic disorders using deep learning

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

Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders

(2017) Matthew Valentine et al.   PEDIATRICS

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

(2016) Karen W. Gripp et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

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

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

(2016) Hélène Cavé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

(2016) Karim Kouz et al.   GENETICS IN MEDICINE

Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype

(2015) Elif Yilmaz Gulec et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genotype – Phenotype Correlations in Noonan Syndrome

(2014) C Rusu   Acta Endocrinologica-Bucharest

Diagnostically relevant facial gestalt information from ordinary photos

(2014) Quentin Ferry et al.   eLife

Natural history of Sanfilippo syndrome in Spain

(2013) Verónica Delgadillo et al.   Orphanet Journal of Rare Diseases

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey

(2010) Sarika Rohatgi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The face of Noonan syndrome: Does phenotype predict genotype

(2010) Judith E. Allanson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Human Phenotype Ontology

(2010) PN Robinson 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