A Aralex Aachen research explorer

January 01, 2023 conference-paper Open access

Improving Deep Facial Phenotyping for Ultra-rare Disorder Verification Using Model Ensembles

IEEE/CVF Winter Conference on Applications of Computer Vision (WACV)

DOI: 10.1109/wacv56688.2023.00499 Full text (OA) OpenAlex

Authors 0

Author list not loaded yet.

Cited by 6 stored of 38

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
2024 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

56

citations
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2024 Research Square preprint Computer Science Face recognition and analysis Open access

4

citations
Role of CAMK2D in neurodevelopment and associated conditions
2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

36

citations
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals
2023 Human Genetics article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access

23

citations
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2023 medRxiv preprint Computer Science Face recognition and analysis Open access

25

citations
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

15

citations

6 results

References 0