Copy Number Variant Detection with Low-Coverage Whole-Genome Sequencing Represents a Viable Alternative to the Conventional Array-CGH

por Kucharík, Marcel, Budiš, Jaroslav, Hýblová, Michaela, Minárik, Gabriel, Szemes, Tomáš
Publicado 2021

Maternal Copy Number Imbalances in Non-Invasive Prenatal Testing: Do They Matter?

por Hyblova, Michaela, Gnip, Andrej, Kucharik, Marcel, Budis, Jaroslav, Sekelska, Martina, Minarik, Gabriel
Publicado 2022

Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

por Hyblova, Michaela, Harsanyova, Maria, Nikulenkov-Grochova, Diana, Kadlecova, Jitka, Kucharik, Marcel, Budis, Jaroslav, Minarik, Gabriel
Publicado 2020

Metatranscriptome Analysis of Nasopharyngeal Swabs across the Varying Severity of COVID-19 Disease Demonstrated Unprecedented Species Diversity

por Hyblova, Michaela, Hadzega, Dominik, Babisova, Klaudia, Krumpolec, Patrik, Gnip, Andrej, Sabaka, Peter, Lassan, Stefan, Minarik, Gabriel
Publicado 2023

Long COVID Complicated by Fatal Cytomegalovirus and Aspergillus Infection of the Lungs: An Autopsy Case Report

por Krivosikova, Lucia, Kuracinova, Tereza, Martanovic, Peter, Hyblova, Michaela, Kaluzay, Jozef, Uhrinova, Alexandra, Janega, Pavol, Babal, Pavel
Publicado 2023

Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report

por Karabinos, Anton, Hyblova, Michaela, Eckertova, Miroslava, Tomkova, Erika, Schwartzova, Drahomira, Luckanicova, Nikoleta, Magyarova, Gabriela, Minarik, Gabriel
Publicado 2022

Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles

por Radvanszky, Jan, Hyblova, Michaela, Radvanska, Eva, Spalek, Peter, Valachova, Alica, Magyarova, Gabriela, Bognar, Csaba, Polak, Emil, Szemes, Tomas, Kadasi, Ludevit
Publicado 2021

The Potential of Liquid Biopsy in Detection of Endometrial Cancer Biomarkers: A Pilot Study

por Kodada, Dominik, Hyblova, Michaela, Krumpolec, Patrik, Janostiakova, Nikola, Barath, Peter, Grendar, Marian, Blandova, Gabriela, Petrovic, Oliver, Janega, Pavol, Repiska, Vanda, Minarik, Gabriel
Publicado 2023

Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions

por Kucharik, Marcel, Gnip, Andrej, Hyblova, Michaela, Budis, Jaroslav, Strieskova, Lucia, Harsanyova, Maria, Pös, Ondrej, Kubiritova, Zuzana, Radvanszky, Jan, Minarik, Gabriel, Szemes, Tomas
Publicado 2020

Result of Prospective Validation of the Trisomy Test(®) for the Detection of Chromosomal Trisomies

por Sekelska, Martina, Izsakova, Anita, Kubosova, Katarina, Tilandyova, Petra, Csekes, Erika, Kuchova, Zaneta, Hyblova, Michaela, Harsanyova, Maria, Kucharik, Marcel, Budis, Jaroslav, Szemes, Tomas, Minarik, Gabriel
Publicado 2019

Combination of expert guidelines-based and machine learning-based approaches leads to superior accuracy of automated prediction of clinical effect of copy number variations

por Sládeček, Tomáš, Gažiová, Michaela, Kucharík, Marcel, Zaťková, Andrea, Pös, Zuzana, Pös, Ondrej, Krampl, Werner, Tomková, Erika, Hýblová, Michaela, Minárik, Gabriel, Radvánszky, Ján, Budiš, Jaroslav, Szemes, Tomáš
Publicado 2023

Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing

por Jedličková, Ivana, Přistoupilová, Anna, Nosková, Lenka, Majer, Filip, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Trešlová, Helena, Hýblová, Michaela, Solár, Peter, Minárik, Gabriel, Giertlová, Mária, Kmoch, Stanislav
Publicado 2020

Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico...

por Minarik, Gabriel, Repiska, Gabriela, Hyblova, Michaela, Nagyova, Emilia, Soltys, Katarina, Budis, Jaroslav, Duris, Frantisek, Sysak, Rastislav, Gerykova Bujalkova, Maria, Vlkova-Izrael, Barbora, Biro, Orsolya, Nagy, Balint, Szemes, Tomas
Publicado 2015