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- Hereditary motor neuropathies
MUDr. Radim Mazanec, Ph.D., MUDr. Veronika Potočková, MUDr. Petra Laššuthová, Ph.D., RNDr. Jana Neupauerová, MUDr. Daniel Baumgartner, MUDr. Dana Šafka-Brožková, Ph.D., Prof. MUDr. Pavel Seeman, Ph.D.
(6/2016, Main topic ) - Analysis of associated genes with neurodegenerative diseases: practical experience of neurodegenerative centers in FTN
RNDr. Eva Parobková, Ph.D., MUDr. Petr Šuhaj, Ing. Hana Šulcová, prof. MUDr. Radoslav Matěj, Ph.D.
(4/2024, Main topic ) - Genetics of epilepsies and current possibilities of their genetic diagnostics
Mgr. Natália Forgáčová, Mgr. Ingrid Lojová, RNDr. Ján Radvánszky, PhD., Mgr. Andrea Zaťková, PhD.
(1/2025, Main topic )
- Primary ciliary dyskinesia
prof. MUDr. László Kovács, DrSc., MPH, MUDr. Viera Vršanská, CSc., doc. MUDr. Denisa Ilenčíková, PhD., RNDr. Oľga Nyitrayová, MUDr. Kristína Gulbišová, doc. MUDr. Martin Brezina, CSc.
(2/2014, Review articles )
- RNDr. Gabriel Minárik, PhD.
RNDr. Gabriel Minárik, PhD.
(5/2014, Main topic ) - Recent applications of massive parallel sequencing in cancer diagnosis and treatment
RNDr. Regína Lohajová Behulová, PhD., Mgr. Romana Valenčíková, PhD., Mgr. Lukáš Šebest, PhD., Mgr. Lenka Dolešová, PhD., Mgr. Tomáš Slamka, Mgr. Eva Krascsenitsová, PhD.
(3/2022, Original articles ) - From molecular biology to the next-generation sequencing – genome-guided cancer therapy decisions
doc. RNDr. Zora Lasabová, CSc., prof. MUDr. Lukáš Plank, CSc.
(6/2018, Main topic )
- Reinterpretation of the primary indication in the context of secondary symptoms using a whole-exome approach in a patient with cardiofaciocutaneous syndrome
RNDr. Michal Konečný, PhD., Mgr. Gabriela Krasňanská, RNDr. Gabriela Bľandová, PhD., MUDr. Maria Andrejková, MUDr. Simona Drobňáková, MUDr. Róbert Ostró, Mgr. Vladimír Eliaš, Mgr. Klaudia Čepčeková, PhD., Mgr. Karin Ďurišová, Mgr. Marian Baldovič, PhD.
(1/2026, Original articles & case reports ) - First reported case of Pearson syndrome in Slovakia with atypical phenotype of short stature and mesomelia
RNDr. Gabriela Bľandová, PhD., MUDr. Michaela Murgašová, MUDr. Adam Markocsy, PhD., Mgr. Marian Baldovič, PhD., Mgr. Gabriela Krasňanská, Mgr. Vladimír Eliaš, prof. RNDr. Vanda Repiská, PhD., RNDr. Michal Konečný, PhD.
(1/2026, Original articles & case reports ) - A novel deletion in the ATAD3 gene cluster as a cause of pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome in a newborn
Mgr. Renáta Michalovská, Ph.D., Mgr. Helena Paszeková, MUDr. Zděnka Vlčková, MUDr. Václava Curtisová, MSc., MUDr. Ivana Marková, Ph.D., MUDr. Martin Schwarz, Ph.D., MBA
(2/2025, Main topic ) - GLASS syndrome caused by a defect in the SATB2 gene: a pilot study in the Slovak population
RNDr. Michal Konečný, PhD., MUDr. Silvia Vogelová, Mgr. Gabriela Krasňanská, RNDr. Gabriela Bľandová, Mgr. Vladimír Eliaš, MUDr. Mária Petríková, Miroslava Mihalíková, Mgr. Marian Baldovič, PhD.
(2/2025, Original articles & case reports ) - Genetic background of autism spectrum disorders – case report
RNDr. Silvia Lakatošová, PhD., Mgr. Gabriela Repiská, PhD., MUDr. Michaela Miklošovičová, Mgr. Mária Kopčíková, Mgr. Ivan Belica, PhD., MUDr. Mária Vidošovičová, RNDr. Lenka Wachsmannová, PhD., Mgr. Gabriela Krasňanská, prof. MUDr. Daniela Ostatníková, PhD., RNDr. Michal Konečný, PhD.
(1/2024, Main topic ) - Key factors influencing variant identification from whole-exome sequencing
RNDr. Katarína Skalická, PhD., MPH
(2/2024, Main topic )













