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