Gabriela Repiská

ORCID: 0000-0003-2069-8859
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About
Contact & Profiles
Research Areas
  • Prenatal Screening and Diagnostics
  • Extracellular vesicles in disease
  • Autism Spectrum Disorder Research
  • MicroRNA in disease regulation
  • Fetal and Pediatric Neurological Disorders
  • Genetics and Neurodevelopmental Disorders
  • Parvovirus B19 Infection Studies
  • Child Development and Digital Technology
  • Molecular Biology Techniques and Applications
  • Reproductive System and Pregnancy
  • Gut microbiota and health
  • Pregnancy and preeclampsia studies
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics
  • Cancer Cells and Metastasis
  • Child Nutrition and Feeding Issues
  • Clostridium difficile and Clostridium perfringens research
  • Genetically Modified Organisms Research
  • Circular RNAs in diseases
  • Bone Tissue Engineering Materials
  • Stress Responses and Cortisol
  • Attention Deficit Hyperactivity Disorder
  • Cancer-related molecular mechanisms research
  • Advanced biosensing and bioanalysis techniques
  • Bone Metabolism and Diseases

Comenius University Bratislava
2015-2025

Czech Academy of Sciences, Institute of Physiology
2017-2024

Center for Autism and Related Disorders
2024

The University of Texas MD Anderson Cancer Center
2018

Institute of Molecular Biology of the Slovak Academy of Sciences
2018

Slovak Medical University
2018

Slovak Academy of Sciences
2018

Vysoká Škola Zdravotníctva a Sociálnej Práce sv. Alžbety
2018

Northwestern University
2018

Princess Margaret Cancer Centre
2018

Specific applications and modern technologies, like non-invasive prenatal testing, cancer diagnostic next generation sequencing, are currently in the focus of researchers worldwide. These have common characteristics use highly fragmented DNA molecules for analysis. Hence, performance molecular methods, concentration is a crucial parameter; we compared influence different levels fragmentation on accuracy measurements.In our comparison, most commonly used methods measurement...

10.1186/1480-9222-15-5 article EN cc-by Biological Procedures Online 2013-02-13

Abstract intestinal microbiota is becoming a significant marker that reflects differences between health and disease status also in terms of gut-brain axis communication. Studies show children with autism spectrum disorder (ASD) often have mix gut microbes distinct from the neurotypical children. Various assays are being used for investigation were considered to be universal. However, newer studies showed protocol preparing DNA sequencing libraries key factor influencing results...

10.1038/s41598-021-86378-w article EN cc-by Scientific Reports 2021-03-24

10.1007/s44411-025-00052-5 article EN Bratislavské lekárske listy/Bratislava medical journal 2025-01-29

10.1007/s44411-025-00065-0 article EN Bratislavské lekárske listy/Bratislava medical journal 2025-03-04

Objectives The aims of this study were to test the utility benchtop NGS platforms for NIPT trisomy 21 using previously published z score calculation methods and optimize sample preparation data analysis with use in silico physical size selection methods. Methods Samples from 130 pregnant women analyzed by whole genome sequencing on systems Ion Torrent PGM MiSeq. targeted yield 3 million raw reads each platform was used calculation. impact analytical performance studied. Results Using a value...

10.1371/journal.pone.0144811 article EN cc-by PLoS ONE 2015-12-15

Extracellular DNA (ecDNA) is outside of cells, which a result various mechanisms. EcDNA believed to be cause pathogeneses as well their potential biomarker. also part small extracellular vesicles (sEVs) from cell cultures. If ecDNA present in sEVs plasma, membrane may protect it degradation by deoxyribonucleases. Moreover, play role the intercellular communication, and they can therefore transfer between cells. The aim this study was investigate presence isolated fresh human plasma...

10.3390/ijms24065915 article EN International Journal of Molecular Sciences 2023-03-21

Abstract Background: The cell free fetal DNA (cffDNA) present in plasma of pregnant women represents an important alternative source for non-invasive prenatal diagnosis. Due to the low quantity and increased fragmentation cffDNA, choice extraction method is a crucial step downstream analyses. Methods: In our study, three spin column-based kits isolation cffDNA [DNA Blood Mini Kit (DBM), DSP Virus (DSP) Circulating Nucleic Acid (CNA) Kit] were compared. Original optimized protocol used...

10.1515/cclm-2012-0418 article EN Clinical Chemistry and Laboratory Medicine (CCLM) 2012-12-08

The etiology of autism spectrum disorders (ASD) remains unknown, but associations between prenatal hormonal changes and ASD risk were found. consequences these on the steroidogenesis during a postnatal development are not yet well known. aim this study was to analyze steroid metabolic pathway in prepubertal neurotypical boys. Plasma samples collected from 62 boys 24 age sex-matched controls (CTRL). Eighty-two biomarkers detected using gas-chromatography tandem-mass spectrometry. We observed...

10.1038/s41398-020-01017-8 article EN cc-by Translational Psychiatry 2020-10-06

Autism spectrum disorders (ASD) are neurodevelopmental characterized by impaired social interaction and communication, as well repetitive behavior restricted interests. There is convincing evidence that the intestinal inflammation involved in etiology of ASD. Increased levels inflammatory markers were shown to be associated with more aberrant behaviors communication subjects Calprotectin feces produced activated neutrophils epithelial cells gut mucosa, its reflect local gastrointestinal...

10.33549/physiolres.933801 article EN cc-by-nc Physiological Research 2017-11-29

Autism spectrum disorder is a heterogeneous neurodevelopmental disease. Currently, no biomarker of this disease known. Diagnosis performed through observation, standardized behavioral scales, and interviews with parents. In practice, diagnosis often delayed to the average age four years or even more which adversely affects child’s perspective. A laboratory method allowing detect at earlier stages great need, as could help patients start treatment younger age, prior clinical diagnosis. Recent...

10.3390/metabo10110443 article EN cc-by Metabolites 2020-11-02

Circulating tumor cells (CTCs) play a pivotal role in dissemination and progression, are considered to be critical part of the metastatic cascade. The aim present research article was examine breast cancer‑specific mutations primary cancer (PBC) using targeted resequencing. A total 78 patients with PBC were enrolled into this translational study. Reverse transcription‑quantitative PCR assay for expression epithelial markers (CK19) or epithelial‑to‑mesenchymal transition (EMT)‑related genes...

10.3892/mco.2020.2026 article EN Molecular and Clinical Oncology 2020-04-01

Purpose of the study was to identify relationship among actual plasmatic levels steroid hormones and behavioral manifestations in boys with autism assess genetic contribution these manifestations.172 under 10 years age 135 neurotypical attended study. ADI-R ADOS-2 were used evaluate core symptom severities. Problem behavior assessed using BPI-01 questionnaire. Levels testosterone, estradiol, dehydroepiandrosterone, dehydroepiandrosterone-sulfate sex hormone binding globulin (SHBG) measured...

10.30773/pi.2021.0094 article EN Psychiatry Investigation 2022-01-19

Background: Circulating nucleic acids acquired non-invasively have been confirmed as useful biomarkers in cancer and prenatal medicine. The most important molecules the field of circulating research are DNA miRNA. In this study, possibility co-isolation total DNA, cell-free fetal miRNA from plasma pregnant women was tested, yields co-isolated using two commercial kits three protocols were compared.

10.1515/cclm-2014-0021 article EN Clinical Chemistry and Laboratory Medicine (CCLM) 2014-01-19

In this article, we present a case study of five-year-old girl with autism and developmental delay, conducted at the Academic Center for Autism Research in Bratislava, Slovakia. The was diagnosed using Diagnostic Observation Schedule-Second Edition (ADOS-2) Interview-Revised (ADI-R) instruments met criteria spectrum disorder. Intellectual functioning markedly below-average range, as indicated by Snijders-Oomen Nonverbal Intelligence Test-Revised (SON-R) examination, her level adaptive...

10.7759/cureus.74379 article EN Cureus 2024-11-25
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