Spolupracovali sme na publikáciach

2021

56.

Maronek, M; Gromova, B; Liptak, R; Konecna, B; Pastorek, M; Cechova, B; Harsanyova, M; Budis, J; Smolak, D; Radvanszky, J; Szemes, T; Harsanyiova, J; Trancikova, A Kralova; Gardlik, R

Extracellular DNA Correlates with Intestinal Inflammation in Chemically Induced Colitis in Mice Journal Article

V: Cells, 10 (1), 2021, ISSN: 20734409.

Abstrakt | Linky | BibTeX | Značky: Body fluids, Cell-free nucleic acids

55.

Pös, O; Radvanszky, J; Styk, J; Pös, Z; Buglyó, G; Kajsik, M; Budis, J; Nagy, B; Szemes, T

Copy number variation: Methods and clinical applications Journal Article

V: Applied Sciences (Switzerland), 11 (2), pp. 1-16, 2021, ISSN: 20763417.

Abstrakt | Linky | BibTeX | Značky: Copy number variation, Review, Variant interpretation

54.

Misova, I; Pitelova, A; Budis, J; Gazdarica, J; Sedlackova, T; Jordakova, A; Benko, Z; Smondrkova, M; Mayerova, N; Pichlerova, K; Strieskova, L; Prevorovsky, M; Gregan, J; Cipak, L; Szemes, T; Polakova, S B

Repression of a large number of genes requires interplay between homologous recombination and HIRA Journal Article

V: Nucleic Acids Research, 49 (4), pp. 1914-1934, 2021, ISSN: 03051048.

Abstrakt | Linky | BibTeX | Značky: Epigenetics, Transcriptomics

53.

Ženišová, K; Cabicarová, T; Sidari, R; Kolek, E; Pangallo, D; Szemes, T; Kuchta, T

Effects of co-fermentation with lachancea thermotolerans or metschnikowia pulcherrima on concentration of aroma compounds in pinot blanc wine Journal Article

V: Journal of Food and Nutrition Research, 60 (1), pp. 87-91, 2021, ISSN: 13368672.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Food microbiome, Fungi

52.

Poláková, S Bágeľová; Lichtner, Ž; Szemes, T; Smolejová, M; Sulo, P

Mitochondrial DNA duplication, recombination, and introgression during interspecific hybridization Journal Article

V: Scientific Reports, 11 (1), 2021, ISSN: 20452322.

Abstrakt | Linky | BibTeX | Značky: Fungi, Mitochondria

51.

Kucharík, M; Budiš, J; Hýblová, M; Minárik, G; Szemes, T

Copy number variant detection with low-coverage whole-genome sequencing represents a viable alternative to the conventional array-cgh Journal Article

V: Diagnostics, 11 (4), 2021, ISSN: 20754418.

Abstrakt | Linky | BibTeX | Značky: Cell-free nucleic acids, Computational method, Copy number variation, Liquid biopsy, Non-invasive prenatal testing

50.

Pecimonova, M; Radvanszky, J; Smolak, D; Budis, J; Lichvar, M; Kristinova, D; Rozova, I; Turna, J; Szemes, T

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report Journal Article

V: Medicine, 100 (22), pp. e26136, 2021, ISSN: 15365964.

Abstrakt | Linky | BibTeX | Značky: Case study, Genetic testing, Single nucleotide variants, Variant interpretation

49.

Radvanszky, J; Hyblova, M; Radvanska, E; Spalek, P; Valachova, A; Magyarova, G; Bognar, C; Polak, E; Szemes, T; Kadasi, L

Characterisation of non-pathogenic premutation-range myotonic dystrophy type 2 alleles Journal Article

V: Journal of Clinical Medicine, 10 (17), 2021, ISSN: 20770383.

Abstrakt | Linky | BibTeX | Značky: Non-invasive prenatal testing, Oncology, Single nucleotide variants

48.

Forgacova, N; Gazdarica, J; Budis, J; Radvanszky, J; Szemes, T

Repurposing non‑invasive prenatal testing data: Population study of single nucleotide variants associated with Colorectal Cancer and Lynch Syndrome Journal Article

V: Oncology Letters, 22 (5), 2021, ISSN: 17921074.

Abstrakt | Linky | BibTeX | Značky: Non-invasive prenatal testing, Oncology, Population study

47.

Hekel, R.; Budis, J.; Kucharik, M.; Radvanszky, J.; Pös, Z.; Szemes, T.

Privacy-preserving storage of sequenced genomic data Journal Article

V: BMC Genomics, 22 (1), 2021, ISSN: 14712164.

Abstrakt | Linky | BibTeX | Značky:

46.

Brejová, B.; Hodorová, V.; Boršová, K.; Čabanová, V.; Szemes, T.; Mišík, M.; Klempa, B.; Nosek, J.; Vinař, T.

Sequencing SARS-CoV-2 in Slovakia: An unofficial genomic surveillance report Konferencia

2962 , CEUR-WS, 2021, ISSN: 16130073.

Abstrakt | Linky | BibTeX | Značky: Sars-cov-2

45.

Goga, A.; Böhmer, M.; Hekel, R.; Krampl, W.; Brejová, B.; Vinař, T.; Budiš, J.; Szemes, T.

SnakeLines workflow for SARS-CoV-2 variant detection from next-generation sequencing reads Konferencia

2962 , CEUR-WS, 2021, ISSN: 16130073.

Abstrakt | Linky | BibTeX | Značky: Sars-cov-2, Variant calling

44.

Forgacova, N.; Gazdarica, J.; Budis, J.; Sekelska, M.; Szemes, T.

Identification and analyses of variants associated with COVID-19 from non-invasive prenatal testing in Slovak population Konferencia

2962 , CEUR-WS, 2021, ISSN: 16130073.

Abstrakt | Linky | BibTeX | Značky: Non-invasive prenatal testing, Population study, Sars-cov-2, Variant calling

2020

43.

Böhmer, M; Ozdín, D; Račko, M; Lichvár, M; Budiš, J; Szemes, T

Identification of bacterial and fungal communities in the roots of orchids and surrounding soil in heavy metal contaminated area of mining heaps Journal Article

V: Applied Sciences (Switzerland), 10 (20), pp. 1-18, 2020, ISSN: 20763417.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Environmental microbiome, Metagenomics, Plants

42.

Böhmer, M; Smoľak, D; Ženišová, K; Čaplová, Z; Pangallo, D; Puškárová, A; Bučková, M; Cabicarová, T; Budiš, J; Šoltýs, K; Rusňáková, D; Kuchta, T; Szemes, T

Comparison of microbial diversity during two different wine fermentation processes Journal Article

V: FEMS microbiology letters, 367 (18), 2020, ISSN: 15746968.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Food microbiome, Fungi, Metagenomics, Plants

41.

Hyblova, M; Harsanyova, M; Nikulenkov-Grochova, D; Kadlecova, J; Kucharik, M; Budis, J; Minarik, G

Validation of copy number variants detection from pregnant plasma using low-pass whole-genome sequencing in noninvasive prenatal testing-like settings Journal Article

V: Diagnostics, 10 (8), 2020, ISSN: 20754418.

Abstrakt | Linky | BibTeX | Značky: Copy number variation, Fetal fraction, Non-invasive prenatal testing, Validation

40.

Kucharik, M; Gnip, A; Hyblova, M; Budis, J; Strieskova, L; Harsanyova, M; Pös, O; Kubiritova, Z; Radvanszky, J; Minarik, G; Szemes, T

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

V: PLoS ONE, 15 (8 August), 2020, ISSN: 19326203.

Abstrakt | Linky | BibTeX | Značky: Copy number variation, Fetal fraction, Non-invasive prenatal testing, Validation

39.

Šubr, Z; Predajňa, L; Šoltys, K; Bokor, B; Budiš, J; Glasa, M

Comparative transcriptome analysis of two cucumber cultivars with different sensitivity to cucumber mosaic virus infection Journal Article

V: Pathogens, 9 (2), 2020, ISSN: 20760817.

Abstrakt | Linky | BibTeX | Značky: Plants, Transcriptomics, Viruses

38.

Bielik, V; Hric, I; BaláŽ, V; Penesová, A; Vávrová, S; Grones, J; Bokor, B; Budiš, J; Bohmer, M; Minárik, G; Augustovičová, D; Šoltys, K

Gut microbiota diversity in lean athletes is associated with positive energy balance Journal Article

V: Annals of Nutrition and Metabolism, 2020, ISSN: 02506807.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Gut microbiome, Metagenomics

37.

Kiani, A K; Paolacci, S; Scanzano, P; Michelini, S; Capodicasa, N; DÁgruma, L; Notarangelo, A; Tonini, G; Piccinelli, D; Farshid, K R; Petralia, P; Fulcheri, E; Buffelli, F; Chiurazzi, P; Terranova, C; Plotti, F; Angioli, R; Castori, M; Pös, O; Szemes, T; Bertelli, M

Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test Journal Article

V: Acta bio-medica : Atenei Parmensis, 91 (13S), pp. e2020021, 2020, ISSN: 25316745.

Abstrakt | Linky | BibTeX | Značky: Non-invasive prenatal testing, Prenatal diagnosis, Prenatal therapy, Review

36.

Pös, Z; Pös, O; Styk, J; Mocova, A; Strieskova, L; Budis, J; Kadasi, L; Radvanszky, J; Szemes, T

Technical and methodological aspects of cell‐free nucleic acids analyzes Journal Article

V: International Journal of Molecular Sciences, 21 (22), pp. 1-43, 2020, ISSN: 16616596.

Abstrakt | Linky | BibTeX | Značky: Body fluids, Cell-free nucleic acids, Liquid biopsy, Non-invasive prenatal testing, Review

35.

Soltysova, A; Sedlackova, T; Dvorska, D; Jasek, K; Baradaran, P C; Kajabova, V H; Demkova, L; Buocikova, V; Kurucova, T; Lyskova, D; Furdova, A; Minarik, G; Babal, P; Dankova, Z; Smolkova, B

Monosomy 3 influences epithelial-mesenchymal transition gene expression in uveal melanoma patients; consequences for liquid biopsy Journal Article

V: International Journal of Molecular Sciences, 21 (24), pp. 1-24, 2020, ISSN: 16616596.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Body fluids, Circulating tumor cells, Liquid biopsy, Oncology

34.

Smolkova, B; Cierna, Z; Kalavska, K; Miklikova, S; Plava, J; Minarik, G; Sedlackova, T; Cholujova, D; Gronesova, P; Cihova, M; Majerova, K; Karaba, M; Benca, J; Pindak, D; Mardiak, J; Mego, M

Increased stromal infiltrating lymphocytes are associated with the risk of disease progression in mesenchymal circulating tumor cell-positive primary breast cancer patients Journal Article

V: International Journal of Molecular Sciences, 21 (24), pp. 1-16, 2020, ISSN: 16616596.

Abstrakt | Linky | BibTeX | Značky: Body fluids, Circulating tumor cells, Liquid biopsy, Oncology

2019

33.

Sekelska, M; Izsakova, A; Kubosova, K; Tilandyova, P; Csekes, E; Kuchova, Z; Hyblova, M; Harsanyova, M; Kucharik, M; Budis, J; Szemes, T; Minarik, G

Result of prospective validation of the trisomy Test® for the detection of chromosomal trisomies Journal Article

V: Diagnostics, 9 (4), 2019, ISSN: 20754418.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Fetal fraction, Non-invasive prenatal testing, Validation

32.

Pös, O; Budis, J; Kubiritova, Z; Kucharik, M; Duris, F; Radvanszky, J; Szemes, T

Identification of structural variation from NGS-based non-invasive prenatal testing Journal Article

V: International Journal of Molecular Sciences, 20 (18), 2019, ISSN: 16616596.

Abstrakt | Linky | BibTeX | Značky: Copy number variation, Non-invasive prenatal testing, Population study

31.

Pangallo, D; Kraková, L; Puškárová, A; Šoltys, K; Bučková, M; Koreňová, J; Budiš, J; Kuchta, T

Transcription activity of lactic acid bacterial proteolysis-related genes during cheese maturation Journal Article

V: Food Microbiology, 82 , pp. 416-425, 2019, ISSN: 07400020.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Food microbiome, Metagenomics, Transcriptomics

30.

Gazdarica, J; Hekel, R; Budis, J; Kucharik, M; Duris, F; Radvanszky, J; Turna, J; Szemes, T

Combination of fetal fraction estimators based on fragment lengths and fragment counts in non-invasive prenatal testing Journal Article

V: International Journal of Molecular Sciences, 20 (16), 2019, ISSN: 16616596.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Computational method, Fetal fraction, Non-invasive prenatal testing

29.

Planý, M; Czolderová, M; Kraková, L; Puškárová, A; Bučková, M; Šoltys, K; Budiš, J; Szemes, T; Mackulak, T; Wu, J -H; Pangallo, D

Biogas production: evaluation of the influence of K2FeO4 pretreatment of maple leaves (Acer platanoides) on microbial consortia composition Journal Article

V: Bioprocess and Biosystems Engineering, 42 (7), pp. 1151-1163, 2019, ISSN: 16157591.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Biogas production, Fungi, Metagenomics, Plants

28.

Gazdarica, J; Budis, J; Duris, F; Turna, J; Szemes, T

Adaptable model parameters in non-invasive prenatal testing lead to more stable predictions Journal Article

V: International Journal of Molecular Sciences, 20 (14), 2019, ISSN: 16616596.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Computational method, Non-invasive prenatal testing

27.

Strieskova, L; Gazdaricova, I; Kajsik, M; Soltys, K; Budis, J; Pos, O; Lickova, M; Klempa, B; Szemes, T

Ultracentrifugation enrichment protocol followed by total RNA sequencing allows assembly of the complete mitochondrial genome Journal Article

V: Journal of Biotechnology, 299 , pp. 8-12, 2019, ISSN: 01681656.

Abstrakt | Linky | BibTeX | Značky: Assembly, Mitochondria, Single nucleotide variants, Transcriptomics

26.

Budis, J; Gazdarica, J; Radvanszky, J; Harsanyova, M; Gazdaricova, I; Strieskova, L; Frno, R; Duris, F; Minarik, G; Sekelska, M; Nagy, B; Szemes, T

Non-invasive prenatal testing as a valuable source of population specific allelic frequencies Journal Article

V: Journal of Biotechnology, 299 , pp. 72-78, 2019, ISSN: 01681656.

Abstrakt | Linky | BibTeX | Značky: Non-invasive prenatal testing, Population study, Single nucleotide variants, Variant calling

25.

Kubiritova, Z; Gyuraszova, M; Nagyova, E; Hyblova, M; Harsanyova, M; Budis, J; Hekel, R; Gazdarica, J; Duris, F; Kadasi, L; Szemes, T; Radvanszky, J

On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing Journal Article

V: Journal of Biotechnology, 298 , pp. 64-75, 2019, ISSN: 01681656.

Abstrakt | Linky | BibTeX | Značky: Genetic testing, Single nucleotide variants, Validation, Variant calling

24.

Budiš, J; Kucharík, M; Duriš, F; Gazdarica, J; Zrubcová, M; Ficek, A; Szemes, T; Brejová, B; Radvanszky, J

Dante: Genotyping of known complex and expanded short tandem repeats Journal Article

V: Bioinformatics, 35 (8), pp. 1310-1317, 2019, ISSN: 13674803.

Abstrakt | Linky | BibTeX | Značky: Computational method, Genetic testing, Short tandem repeats, Variant calling

23.

Sádecká, J; Čaplová, Z; Tomáška, M; Šoltys, K; Kopuncová, M; Budiš, J; Drončovský, M; Kolek, E I; Koreňová, J; Kuchta, T

Microorganisms and volatile aroma-active compounds in bryndza cheese produced and marketed in Slovakia Journal Article

V: Journal of Food and Nutrition Research, 58 (4), pp. 382-392, 2019, ISSN: 13368672.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Food microbiome, Fungi, Metagenomics

22.

Tomáška, M; Čaplová, Z; Sádecká, J; Šoltys, K; Kopuncová, M; Budiš, J; Drončovský, M; Kolek, E; Koreňová, J; Kuchta, T

Microorganisms and volatile aroma-active compounds in “nite“and “vojky” cheeses Journal Article

V: Journal of Food and Nutrition Research, 58 (2), pp. 187-200, 2019, ISSN: 13368672.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Food microbiome, Fungi, Metagenomics

21.

Budis, J; Gazdarica, J; Radvanszky, J; Szucs, G; Kucharik, M; Strieskova, L; Gazdaricova, I; Harsanyova, M; Duris, F; Minarik, G; Sekelska, M; Nagy, B; Turna, J; Szemes, T

Combining count- And length-based z-scores leads to improved predictions in non-invasive prenatal testing Journal Article

V: Bioinformatics, 35 (8), pp. 1284-1291, 2019, ISSN: 13674803.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Computational method, Fetal fraction, Non-invasive prenatal testing, Prenatal diagnosis

20.

Nagyova, E; Radvanszky, J; Hyblova, M; Simovicova, V; Goncalvesova, E; Asselbergs, F W; Kadasi, L; Szemes, T; Minarik, G

Targeted next-generation sequencing in Slovak cardiomyopathy patients Journal Article

V: Bratislava Medical Journal, 120 (1), pp. 46-51, 2019, ISSN: 00069248.

Abstrakt | Linky | BibTeX | Značky: Genetic testing, Single nucleotide variants, Variant calling

2018

19.

Duris, F; Gazdarica, J; Gazdaricova, I; Strieskova, L; Budis, J; Turna, J; Szemes, T

Mean and variance of ratios of proportions from categories of a multinomial distribution Journal Article

V: Journal of Statistical Distributions and Applications, 5 (1), 2018, ISSN: 21955832.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Computational method, Non-invasive prenatal testing

18.

Kraková, L; Šoltys, K; Puškárová, A; Bučková, M; Jeszeová, L; Kucharík, M; Budiš, J; Orovčík, L; Szemes, T; Pangallo, D

The microbiomes of a XVIII century mummy from the castle of Krásna Hôrka (Slovakia) and its surrounding environment Journal Article

V: Environmental Microbiology, 20 (9), pp. 3294-3308, 2018, ISSN: 14622912.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Biodeterioration, Fungi, Metagenomics

17.

Soltys, K; Vavrova, S; Budis, J; Palkova, L; Minarik, G; Grones, J

Draft genome sequence of Escherichia coli KL53 Journal Article

V: Genome Announcements, 6 (13), 2018, ISSN: 21698287.

Abstrakt | Linky | BibTeX | Značky: Assembly, Bacteria

2017

16.

Radvanszky, J; Hyblova, M; Durovcikova, D; Hikkelova, M; Fiedler, E; Kadasi, L; Turna, J; Minarik, G; Szemes, T

Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome Journal Article

V: Clinical Genetics, 91 (2), pp. 339-343, 2017, ISSN: 00099163.

Abstrakt | Linky | BibTeX | Značky: Case study, Genetic testing, Single nucleotide variants, Variant calling

15.

Sulo, P; Szabóová, D; Bielik, P; Poláková, S; Soltys, K; Jatzová, K; Szemes, T

The evolutionary history of Saccharomyces species inferred fromcompleted mitochondrial genomes and revision in the 'yeast mitochondrial genetic code' Journal Article

V: DNA Research, 24 (6), pp. 571-583, 2017, ISSN: 13402838.

Abstrakt | Linky | BibTeX | Značky: Assembly, Fungi, Mitochondria, Phylogeny

14.

Cierna, Z; Janega, P; Grochal, F; Ferianec, V; Braxatorisova, T; Strieskova, L; Malova, J; Jungova, P; Szemes, T

The first reported case of meckel-gruber syndrome associated with abnormal karyotype mosaic trisomy 17 Journal Article

V: Pediatric and Developmental Pathology, 20 (5), pp. 449-454, 2017, ISSN: 10935266.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Case study, Genetic testing

2016

13.

Kraková, L; Šoltys, K; Budiš, J; Grivalský, T; Ďuriš, F; Pangallo, D; Szemes, T

Investigation of bacterial and archaeal communities: novel protocols using modern sequencing by Illumina MiSeq and traditional DGGE-cloning Journal Article

V: Extremophiles, 20 (5), pp. 795-808, 2016, ISSN: 14310651.

Abstrakt | Linky | BibTeX | Značky: Bacteria, Environmental microbiome, Metagenomics

2015

12.

Minarik, G; Repiska, G; Hyblova, M; Nagyova, E; Soltys, K; Budis, J; Duris, F; Sysak, R; Bujalkova, M G; Vlkova-Izrael, B; Biro, O; Nagy, B; Szemes, T

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 and physical size selection on its analytical performance Journal Article

V: PLoS ONE, 10 (12), 2015, ISSN: 19326203.

Abstrakt | Linky | BibTeX | Značky: Aneuploidy, Non-invasive prenatal testing, Size selection, Validation

11.

Repiská, G; Sedláčková, T; Szemes, T; Minárik, G

Effect of different DNA concentration methods on performance of non-invasive fetal y-chromosomal short tandem repeat profiling from maternal plasma Journal Article

V: Fetal Diagnosis and Therapy, 37 (1), pp. 58-64, 2015, ISSN: 10153837.

Abstrakt | Linky | BibTeX | Značky: Fetal fraction, Non-invasive prenatal testing, Prenatal diagnosis, Short tandem repeats

10.

Radvánszky, J; Minárik, G; Szemeš, T; Konečný, M; Kádaši, L

Interpretation of clinical significance of sequence variants in molecular genetics [Interpretácia klinického významu sekvenčných variantov v molekulovej genetike] Journal Article

V: Lekarsky Obzor, 64 (11), pp. 418-427, 2015, ISSN: 04574214.

Abstrakt | Linky | BibTeX | Značky: Genetic testing, Review, Single nucleotide variants, Variant interpretation

2014

9.

Sedlackova, T; Repiska, G; Minarik, G

Selection of an optimal method for co-isolation of circulating DNA and miRNA from the plasma of pregnant women Journal Article

V: Clinical Chemistry and Laboratory Medicine, 52 (11), pp. 1543-1548, 2014, ISSN: 14346621.

Abstrakt | Linky | BibTeX | Značky: Cell-free nucleic acids, Liquid biopsy, Non-invasive prenatal testing

2013

8.

Repiská, G; Sedláčková, T; Szemes, T; Celec, P; Minárik, G

Selection of the optimal manual method of cell free fetal DNA isolation from maternal plasma Journal Article

V: Clinical Chemistry and Laboratory Medicine, 51 (6), pp. 1185-1189, 2013, ISSN: 14346621.

Abstrakt | Linky | BibTeX | Značky: Liquid biopsy, Non-invasive prenatal testing, Validation

7.

Minárik, G; Plank, L; Lasabová, Z; Szemes, T; Burjanivová, T; Szépe, P; Buzalková, V; Porubský, D; Šufliarsky, J

Spectrum of mutations in gastrointestinal stromal tumor patients - a population-based study from Slovakia Journal Article

V: APMIS, 121 (6), pp. 539-548, 2013, ISSN: 09034641.

Abstrakt | Linky | BibTeX | Značky: Oncology, Population study, Single nucleotide variants