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Paper Details

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nat Genet
66
2022
facial dysmorphism, monogenic, monogenic disorders, patient, patients, rare disorders, ultra-rare disorders
Author NameAffiliation
Nadja EhmkeInstitute of Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin, Humboldt-Universitat zu Berlin and Berlin Institute of Health
Denise HornInstitute of Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin, Humboldt-Universitat zu Berlin and Berlin Institute of Health
Axel SchmidtInstitute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn
Gholson J LyonDepartment of Human Genetics and George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities
Gholson J LyonThe City University of New York
Malte SpielmannInstitute of Human Genetics, University of Lubeck
Stefan MundlosInstitute of Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin, Humboldt-Universitat zu Berlin and Berlin Institute of Health
Markus M N??thenInstitute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn
Markus M N??thenInstitute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn
Peter M KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universitat Bonn
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