Publications
- Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder2022 | Second Faculty of Medicine
- Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models2023 | Faculty of Science, Second Faculty of Medicine
- 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
- Novel MECR mutation in a Czech patient with childhood-onset dystonia, optic atrophy, and basal ganglia abnormality2022 | Second Faculty of Medicine, Faculty of Physical Education and Sport, Centre for Knowledge and Technology Transfer
- Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant2022 | Second Faculty of Medicine
- Natural history of KBG syndrome in a large European cohort2022 | 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
- Male patient with ALG13 associated congenital disorder of glycosylation2021 | Second Faculty of Medicine
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