Preprints (earlier versions) of this paper are available at https://preprints.jmir.org/preprint/19263, first published .
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

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

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

Jean Tori Pantel 1, 2*;  Nurulhuda Hajjir 1, 3*;  Magdalena Danyel 1, 4;  Jonas Elsner 1;  Angela Teresa Abad-Perez 1;  Peter Hansen 1, 5, PhD;  Stefan Mundlos 1, 6, Prof Dr;  Malte Spielmann 6, 7, Prof Dr;  Denise Horn 1, Prof Dr;  Claus-Eric Ott 1, MD;  Martin Atta Mensah 1, 8, MD

1 Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin , DE

2 Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn , DE

3 Klinik für Pädiatrie mit Schwerpunkt Gastroenterologie, Nephrologie und Stoffwechselmedizin, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin , DE

4 Berlin Center for Rare Diseases, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin , DE

5 The Jackson Laboratory for Genomic Medicine , Farmington, CT, US

6 RG Development & Disease, Max Planck Institute for Molecular Genetics , Berlin , DE

7 Institute of Human Genetics , University of Lübeck, Lübeck , DE

8 Berlin Institute of Health (BIH) , Berlin , DE

*these authors contributed equally

Corresponding Author:

  • Martin Atta Mensah, MD
  • Institute of Medical Genetics and Human Genetics
  • Charité - Universitätsmedizin Berlin
  • corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health
  • Berlin
  • DE
  • Phone: 49 30 450 569 132
  • Email: martin-atta.mensah@charite.de