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RASopathies
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Mgr. Miroslava Hančárová Ph.D.
Academic staff at Second Faculty of Medicine
39 publications
Publications
publication
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
2018 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 |
Second Faculty of Medicine
publication
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
2021 |
Second Faculty of Medicine
publication
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
2020 |
Second Faculty of Medicine
publication
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 |
Second Faculty of Medicine
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