Genetics in Medicine Open (Jan 2023)
O17: GestaltMatcher supports classification of ultra-rare disorders and delineation of novel syndromes by facial phenotype descriptors*
- Hannah Klinkhammer,
- Hellen Lesmann,
- Shahida Moosa,
- Alexander Hustinx,
- Behnam Javanmardi,
- Jing-Mei Li,
- Martin M.C. Chui,
- Christopher C.Y. Mak,
- Luisa Averdunk,
- Felix Distelmaier,
- Brian Hon-Yin Chung,
- Peter Krawitz,
- Tzung-Chien Hsieh
Affiliations
- Hannah Klinkhammer
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Hellen Lesmann
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Shahida Moosa
- Division of Molecular Biology and Human Genetics, Stellenbosch University, Stellenbosch, South Africa
- Alexander Hustinx
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Behnam Javanmardi
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Jing-Mei Li
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Martin M.C. Chui
- Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, University of Hong Kong
- Christopher C.Y. Mak
- Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, University of Hong Kong
- Luisa Averdunk
- Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital
- Felix Distelmaier
- Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital
- Brian Hon-Yin Chung
- Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, University of Hong Kong
- Peter Krawitz
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Tzung-Chien Hsieh
- Institute for Genomic Statistics and Bioinformatics, University Hospital of Bonn, Bonn, Germany
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100113