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Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions
Title Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions Author Kucharík Marcel Co-authors Gnip Andrej Hyblová Michaela Budiš J. Striešková Lucia Harsanyová Maria Pos Ondrej Pös Zuzana SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV ORCID Radvánszky Ján 1982- SAVUKTRA ; SAVBIOMED - Ústav klinického a translačného výskumu BMC SAV Minárik Gabriel Szemes Tomáš Source document PLoS ONE. Vol. 15, no. 8 (2020), art.no. e0238245 Language eng - English Note open access URL URL link Document kind rozpis článkov z periodík (rbx) Citations DOFFINI, A. - FORCATO, C. - MANGANO, C. - LATTUADA, D. - AVERSA, R. - MARANTA, C. - GIOVANNONE, E.D. - BUSON, G. - BOLOGNESI, C. - MAIOCCHI, R. - DORI, M. - JAMAL, L. - AHMAD, R.B. - YEO, G.S.H. - YEO, T.W. - SARAGOZZA, S. - SILIPIGNI, R. - SERAFINI, M. - BIONDI, A. - PEREGO, S. - VERGANI, P. - FERRAZZI, E. - RICCIARDI-CASTAGNOLI, P. - MUSCI, T.J. - GRATI, F.R. Isolation of single circulating trophoblasts from maternal circulation for noninvasive fetal copy number variant profiling. In PRENATAL DIAGNOSIS. ISSN 0197-3851, JAN 2023, vol. 43, no. 1, p. 14-27. Dostupné na: https://doi.org/10.1002/pd.6275. XIANG, J.L. - PENG, Z.Y. Applications of Non-invasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA. In CLINICS IN LABORATORY MEDICINE. ISSN 0272-2712, DEC 2022, vol. 42, no. 4, SI, p. 613-625. Dostupné na: https://doi.org/10.1016/j.cll.2022.09.014. MOELLGAARD, M.H. - LUND, I.C.B. - BECHER, N. - SKYTTE, A.B. - ANDREASEN, L. - SREBNIAK, M.I. - VOGEL, I. Incidental finding of maternal malignancy in an unusual non-invasive prenatal test and a review of similar cases. In CLINICAL CASE REPORTS. ISSN 2050-0904, OCT 2022, vol. 10, no. 10. Dostupné na: https://doi.org/10.1002/ccr3.6280. ZANINOVIC, L. - BASKOVIC, M. - JEZEK, D. - BOJANAC, A.K. Validity and Utility of Non-Invasive Prenatal Testing for Copy Number Variations and Microdeletions: A Systematic Review. In JOURNAL OF CLINICAL MEDICINE. JUN 2022, vol. 11, no. 12. Dostupné na: https://doi.org/10.3390/jcm11123350. SIMONINI, C. - HOOPMANN, M. - KAGAN, K.O. - SCHRöDER, T. - GEMBRUCH, U. - GEIPEL, A. Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome. In BMC PREGNANCY AND CHILDBIRTH. APR 15 2022, vol. 22, no. 1. Dostupné na: https://doi.org/10.1186/s12884-022-04665-4. PRATELLA, D. - DUBOC, V. - MILANESIO, M. - BOUDJARANE, J. - DESCOMBES, S. - PAQUIS-FLUCKLINGER, V. - BOTTINI, S. GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies. In COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL. ISSN 2001-0370, 2022, vol. 20, p. 1028-1035. Dostupné na: https://doi.org/10.1016/j.csbj.2022.02.014. BOWMAN-SMART, H. - TAYLOR-SANDS, M. Fetal information as shared information: using NIPT to test for adult-onset conditions. In MONASH BIOETHICS REVIEW. ISSN 1321-2753, DEC 2021, vol. 39, no. SUPPL 1, SI, p. 82-102. Dostupné na: https://doi.org/10.1007/s40592-021-00142-4. PALUOJA, P. - TEDER, H. - ARDESHIRDAVANI, A. - BAYINDIR, B. - VERMEESCH, J. - SALUMETS, A. - KRJUTSKOV, K. - PALTA, P. Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples. In PLOS COMPUTATIONAL BIOLOGY. ISSN 1553-734X, DEC 2021, vol. 17, no. 12. Dostupné na: https://doi.org/10.1371/journal.pcbi.1009684. BOWMAN-SMART, H. - GYNGELL, C. - MAND, C. - AMOR, D.J. - DELATYCKI, M.B. - SAVULESCU, J. Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making. In AMERICAN JOURNAL OF BIOETHICS. ISSN 1526-5161, MAR 4 2023, vol. 23, no. 3, p. 3-20. Dostupné na: https://doi.org/10.1080/15265161.2021.1996659. Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2020 Registered in WOS Registered in SCOPUS DOI 10.1371/journal.pone.0238245 
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File name Access Size Downloaded Type License Non-invasive prenatal testing NIPT by low coverage genomic sequencing.pdf available 1.6 MB 1 Publisher's version rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2020 2019 2.740 Q2 1.023 Q1
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