- Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities2021 | 2. lékařská fakulta
- Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome2021 | 1. lékařská fakulta
- Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome2023 | 2. lékařská fakulta, Ústřední knihovna
- Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy2021 | 2. lékařská fakulta
- Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2022 | 2. lékařská fakulta
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 2. lékařská fakulta
- Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH52023 | 2. lékařská fakulta