Simona Poisson Marková

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 sequencing

Dana Šafka Brožková, Simona Poisson Marková, Anna Uhrová Mészárosová et al. · Clinical Genetics · 2020 · 32 citations

<i>STRC</i> Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Simona Poisson Marková, Dana Šafka Brožková, Petra Laššuthová et al. · Genetic Testing and Molecular Biomarkers · 2018 · 25 citations

Genome-wide uniparental diploidy of all paternal chromosomes in an 11-year-old girl with deafness and without malignancy

Irena Borgulová, I. A. Soldatova, Martina Putzová et al. · Journal of Human Genetics · 2018 · 21 citations

Chromatin, Genome-wide Uniparental Diploidy, Mendelian Disorder +11

Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene

Zdeněk Čada, Dana Šafka Brožková, Zuzana Balatková et al. · European Archives of Oto-Rhino-Laryngology · 2019 · 21 citations

Genetic Disorder, Genetics, Audiology +11

Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients

Simona Poisson Marková, Dana Šafka Brožková, Anna Uhrová Mészárosová et al. · International Journal of Pediatric Otorhinolaryngology · 2016 · 16 citations

Small Dfnb Genes, Mendelian Disorder, Genetic Disorder +11