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

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

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

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

(2020) Lynnea Myers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deep learning for image analysis: Personalizing medicine closer to the point of care

(2019) Quin Xie et al.   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations

(2019) Diana Carli et al.   HUMAN MUTATION

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

(2019) Giulia Pascolini et al.   JOURNAL OF HUMAN GENETICS

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

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

Phenotype delineation of ZNF462 related syndrome

(2019) Paul Kruszka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

(2019) Magdalena Danyel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PEDIA: prioritization of exome data by image analysis

(2019) Tzung-Chien Hsieh et al.   GENETICS IN MEDICINE

Coffin–Lowry syndrome in Chinese

(2019) Jasmine L. F. Fung et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion

(2019) Giulia Pascolini et al.   European Journal of Medical Genetics

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

(2019) Karin Weiss et al.   GENETICS IN MEDICINE

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

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

(2019) Christian Staufner et al.   GENETICS IN MEDICINE

Artificial intelligence in clinical and genomic diagnostics

(2019) Raquel Dias et al.   Genome Medicine

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

(2019) Dhanya Lakshmi Narayanan et al.   INDIAN PEDIATRICS

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

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome

(2018) Luitgard M. Graul-Neumann et al.   European Journal of Medical Genetics

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

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

(2018) Alexej Knaus et al.   Genome Medicine

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

The genetic basis of disease

(2018) Maria Jackson et al.   Essays in Biochemistry

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

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

(2017) Matthew Valentine et al.   PEDIATRICS

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature

(2017) Olivia K. Gardner et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

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

Anatomical and clinical aspects of Klinefelter's syndrome

(2016) Rebecca J. Bird et al.   CLINICAL ANATOMY

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

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

Loeys–Dietz syndrome: a primer for diagnosis and management

(2014) Gretchen MacCarrick et al.   GENETICS IN MEDICINE

Diagnostically relevant facial gestalt information from ordinary photos

(2014) Quentin Ferry et al.   eLife

Automated syndrome detection in a set of clinical facial photographs

(2011) Stefan Boehringer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic studies of craniofacial anomalies: clinical implications and applications

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

Impact of geometry and viewing angle on classification accuracy of 2D based analysis of dysmorphic faces

(2007) Tobias Vollmar et al.   European Journal of Medical Genetics