- Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders2020 | Ústřední knihovna
- Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants2020 | Matematicko-fyzikální fakulta
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies2018 | 2. lékařská fakulta
- Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex2023 | 1. lékařská fakulta, Přírodovědecká fakulta
- Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction2023 | 1. lékařská fakulta
- Delineation of functionally essential protein regions for 242 neurodevelopmental genes2022 | Matematicko-fyzikální fakulta
- Shifting landscapes of human MTHFR missense-variant effects2021 | 1. lékařská fakulta
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome2020 | 2. lékařská fakulta
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | 2. lékařská fakulta