Dana Šafka Brožková

Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies

Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin et al. · Brain · 2015 · 83 citations · Full text

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Genome Instability, Molecular Physiology, Genetic Disorder +4

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay

Megan Weber, Hong Yuan Hsin, Ersan Kalay et al. · BMC Medical Genetics · 2014 · 56 citations · Full text

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis

Petra Laššuthová, Dana Šafka Brožková, Marcela Krůtová et al. · Orphanet Journal of Rare Diseases · 2016 · 53 citations · Full text

Homozygous<b><i>EXOSC3</i></b>Mutation c.92G→C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma

Jaroslava Paulasová Schwabová, Dana Šafka Brožková, B. Petrák et al. · Journal of Neurogenetics · 2013 · 43 citations