Area of research
Genetics · Computer Vision and Pattern Recognition
Research interest
Research interests include Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Face recognition and analysis, and Genetics and Neurodevelopmental Disorders.
Validation of 3 Computer-Aided Facial Phenotyping Tools (DeepGestalt, GestaltMatcher, and D-Score): Comparative Diagnostic Accuracy Study
REEV: review, evaluate and explain variants
Three-Dimensional Histological Characterization of the Placental Vasculature Using Light Sheet Microscopy
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
Biallelic known and novel <scp><i>DCDC2</i></scp> variants in cholestatic liver disease: Phenotype–genotype observations in four children
Patient with a novel syndrome with multiple benign hepatic lesions and extrahepatic neoplasms
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study
PEDIA: prioritization of exome data by image analysis
Evaluation of the role of STAP1 in Familial Hypercholesterolemia
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings
Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report