Anna Fečíková

Monogenic variants in dystonia: an exome-wide sequencing study

Michael Zech, Robert Jech, Sylvia Boesch et al. · The Lancet Neurology · 2020 · 206 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +3

<i>KMT2B</i> rare missense variants in generalized dystonia

Michael Zech, Robert Jech, Petra Havránková et al. · Movement Disorders · 2017 · 45 citations · Full text

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing

Michael Zech, Robert Jech, Matias Wagner et al. · Neurogenetics · 2017 · 44 citations

Complex Dystonia, Mendelian Disorder, Genetics +4

A unique de novo gain-of-function variant in <i>CAMK4</i> associated with intellectual disability and hyperkinetic movement disorder

Michael Zech, Daniel D. Lam, Sandrina Weber et al. · Molecular Case Studies · 2018 · 24 citations · Full text

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela Morgan et al. · Genetics in Medicine · 2019 · 21 citations · Full text

Neurodevelopmental Disorders, Mendelian Disorder, Speech Impairment +9