Publications
- The Human Phenotype Ontology in 2024: phenotypes around the world2024 | Second Faculty of Medicine
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Second Faculty of Medicine, Faculty of Science
- A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing2023 | Second Faculty of Medicine
- Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management2022 | Second Faculty of Medicine
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
- A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis2021 | Second Faculty of Medicine
- Possibilities to Simplify Diagnosis and Therapy of Rare Diseases in Dentistry Using an Expert System2021 | Second Faculty of Medicine
- Solve-RD: the ITHACA perspectivePublication without faculty affiliation
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