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Jana Švantnerová | Researchclopedia

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Jana Švantnerová

Comenius University Bratislava

13

Works

340

Citations

7

h-index

7

i10-index

Research Topics

Neurological disorders and treatments Genomics and Rare Diseases Parkinson's Disease Mechanisms and Treatments

Affiliations

University Hospital Bratislava2020–2022

Národný ústav detských chorôb2021–2021

Ocná klinika2021–2021

Ocní klinika2021–2021

Comenius University Bratislava2020–2023

Top Works

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech,Robert Jech,et al.

2020206 citations

Genetic Neurodegenerative Diseases

Neurogenetic and Muscular Disorders Research

Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series

Ivana Dzinovic,Matěj Škorvánek,et al.

202126 citations

Scoring Algorithm‐Based Genomic Testing in Dystonia: A Prospective Validation Study

Michael Zech,Robert Jech,et al.

202126 citations

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia

Michael Zech,Sylvia Boesch,et al.

202124 citations

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes

Ivana Dzinovic,Sylvia Boesch,et al.

202221 citations

Neurodevelopmental Gene‐Related Dystonia‐Parkinsonism with Onset in Adults: A Case with <scp><i>NAA15</i></scp> Variant

Igor Straka,Jana Švantnerová,et al.

202215 citations

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet,Kirsty McWalter,et al.

202014 citations

Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders

Petra Pavelekova,Ján Necpál,et al.

20234 citations

ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy

Jana Švantnerová,Michal Minár,et al.

20223 citations