Spectrum and frequencies of non <scp> <i>GJB2</i> </scp> gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencingDana Šafka Brožková, Pavel Seeman, Jana Laštůvková et al.|Clinical Genetics|2020Cited by 35
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 RegionDana Šafka Brožková, Pavel Seeman, Vlasta Čejnová et al.|Genes|2021Cited by 21
Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variantDana Šafka Brožková, Pavel Seeman, Lukáš Varga et al.|Orphanet Journal of Rare Diseases|2020Cited by 15
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothersAnna Uhrová Mészárosová, Dana Šafka Brožková, Jana Laštůvková et al.|Clinical Dysmorphology|2020Cited by 8
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patientAnna Uhrová Mészárosová, Pavel Seeman, Dana Šafka Brožková et al.|Journal of Clinical Neuroscience|2018Cited by 5