Name and surname:
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doc. RNDr. Ján Radvánszky, PhD.
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Document type:
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Research/art/teacher profile of a person
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The name of the university:
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Comenius University Bratislava
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The seat of the university:
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Šafárikovo námestie 6, 818 06 Bratislava
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Palffy R., Gardlik R., Hodosy J., Behuliak M., Resko P., Radvansky J., Celec P. (2006): Bacteria in gene therapy: bactofection versus alternative gene therapy. Gene Therapy. 13(2), 101-105
Nemethova M, Radvanszky J, Kadasi L, Ascher DB, …, Zatkova A. (2016): Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. Eur J Hum Genet. 24(1):66-72.
Radvansky J., Ficek A., Minarik G., Palffy R., Kadasi L. (2011): Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagnostic Molecular Pathology. 20(1):48-51.
Polak E., Ficek A., Radvanszky J., Soltysova A., Urge O., Cmelova E., Kantarska D., Kadasi L. (2013): Phenylalanine hydroxylase deficiency in the Slovak population: Genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness. Gene. 526(2):347-55
Radvanszky J., Surovy M., Nagyova E., Minarik G., Kadasi L. (2015): Comparison of different DNA binding fluorescent dyes for applications of high-resolution melting analysis. Clinical Biochemistry. 48(9):609-16
Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G and Szemes T (2017): Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Clin Genet 91(2):339-343.
Kubiritova Z, Radvanszky J, Gardlik R. (2019): Cell-Free Nucleic Acids and their Emerging Role in the Pathogenesis and Clinical Management of Inflammatory Bowel Disease. Int J Mol Sci.; 20(15).
Pös Z, Pös O, Styk J, Mocova A, Strieskova L, Budis J, Kadasi L, Radvanszky J, Szemes T. (2020): Technical and Methodological Aspects of Cell-Free Nucleic Acids Analyzes. Int J Mol Sci. 2020 Nov 16;21(22):8634.
Budiš J., Kucharík M., Ďuriš F., Gazdarica J., Zrubcová M., Ficek A., Szemes T., Brejová B., Radvanszky J. (2019): Dante: genotyping of known complex and expanded short tandem repeats. Bioinformatics. 35(8):1310-1317.
Kubiritova Z, Gyuraszova M, Nagyova E, Hyblova M, Harsanyova M, Budis J, Hekel R, Gazdarica J, Duris F, Kadasi L, Szemes T, Radvanszky J. (2019): On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing. J Biotechnol. 298:64-75.
na Radvansky J.et al. (2011): Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagnostic Molecular Pathology. 20(1):48-51.
ohlas: Kamsteeg et al.: Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. European Journal of Human Genetics volume 20, pages 1203–1208 (2012)
na Radvansky J.et al. (2011): Effect of unexpected sequence interruptions to conventional PCR and repeat primed PCR in myotonic dystrophy type 1 testing. Diagnostic Molecular Pathology. 20(1):48-51.
ohlas: Santoro et al.: Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions. Journal of Neurology volume 260, pages 1245–1257 (2013)
na Budiš J. et al. (2019): Dante: genotyping of known complex and expanded short tandem repeats. Bioinformatics. 35(8):1310-1317.
ohlas: Halman: Accuracy of short tandem repeats genotyping tools in whole exome sequencing data. F1000Res. 2020; 9: 200.
na Budiš J. et al. (2019): Dante: genotyping of known complex and expanded short tandem repeats. Bioinformatics. 35(8):1310-1317.
ohlas: Chen et al. Y-LineageTracker: a high-throughput analysis framework for Y-chromosomal next-generation sequencing data. BMC Bioinformatics volume 22, Article number: 114 (2021)
na Budiš J. et al. (2019): Dante: genotyping of known complex and expanded short tandem repeats. Bioinformatics. 35(8):1310-1317.
ohlas: Kinney et al Ethnically biased microsatellites contribute to differential gene expression and glutathione metabolism in Africans and Europeans. PLOS ONE. March 25, 2021. https://doi.org/10.1371/journal.pone.0249148