Ján Jenčík

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 · 33 citations

Life Sciences, Genetics, Molecular Genetics +16

Monitoring of methylation changes in 9p21 region in patients with myelodysplastic syndromes and acute myeloid leukemia

Hana Cechova, Petra Laššuthová, Ludmila Nováková et al. · Neoplasma · 2011 · 28 citations · Full text

Medicine, Genetics, Hematology +16

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

Life Sciences, Genetics, Molecular Genetics +11

Fanconi anemia with biallelic FANCD1/BRCA2 mutations – Case report of a family with three affected children

Karel Švojgr, David Sumerauer, Alena Puchmajerová et al. · European Journal of Medical Genetics · 2015 · 16 citations

Life Sciences, Genetics, Hematology +14

Variant c.2158-2A&gt;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 variant

Dana Šafka Brožková, Lukáš Varga, Anna Uhrová Mészárosová et al. · Orphanet Journal of Rare Diseases · 2020 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17