Katarína Kušíková

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

Denisa Weis, Liangguang Leo Lin, Huilun Wang et al. · Journal of Clinical Investigation · 2023 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

Michael Zech, Ivana Dzinovic, Matěj Škorvánek et al. · Brain · 2025 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy

Katarína Kušíková, René G. Feichtinger, Bernhard Csillag et al. · Frontiers in Pediatrics · 2021 · 19 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17