- Mikroduplikační syndrom 16p13.3 u jednovaječných dvojčat s rozdílným fenotypem2019 | Second Faculty of Medicine
- Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome2006 | Second Faculty of Medicine
- Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense in codon 1175 of CREBBP2002 | Second Faculty of Medicine
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals2023 | Second Faculty of Medicine
- Intronic microduplications of RBFOX1 gene and their phenotypic consequencesPublication without faculty affiliation