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DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Názov DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects Autor Pos Ondrej Spoluautori Radvánszky Ján SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV SCOPUS RID ORCID Buglyo Gergely Pös Zuzana SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV SCOPUS RID ORCID Rusňáková D. Nagy B. Szemes Tomas Zdroj.dok. Biomedical Journal. Vol. 44, no. 5 (2021), p. 548-559 Jazyk dok. eng - angličtina Poznámky open access URL URL link Druh dok. rozpis článkov z periodík (rbx) Ohlasy DAMIAN, A. - IONESCU, R.O. - DE ALBA, M.R. - TAMAYO, A. - TRUJILLO-TIEBAS, M.J. - COTARELO-PEREZ, M.C. - RODRIGUEZ, O.P. - VILLAVERDE, C. - DE LA FUENTE, L. - ROMERO, R. - NUNEZ-MORENO, G. - MINGUEZ, P. - AYUSO, C. - CORTON, M. Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. DEC 2021, vol. 22, no. 23. Dostupné na: https://doi.org/10.3390/ijms222312713. KATTNER, A.A. Greek gods and the double-edged sword of liver regeneration. In BIOMEDICAL JOURNAL. ISSN 2319-4170, OCT 2021, vol. 44, no. 5, p. 515-520. Dostupné na: https://doi.org/10.1016/j.bj.2021.10.010. SZECOWKA, K. - MISIAK, B. - LACZMANSKA, I. - FRYDECKA, D. - MOUSTAFA, A.A. Copy Number Variations and Schizophrenia. In MOLECULAR NEUROBIOLOGY. ISSN 0893-7648, APR 2023, vol. 60, no. 4, p. 1854-1864. Dostupné na: https://doi.org/10.1007/s12035-022-03185-8. BASTOS, G.C. - TOLEZANO, G.C. - KREPISCHI, A.C.V. Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes. In GENES. DEC 2022, vol. 13, no. 12. Dostupné na: https://doi.org/10.3390/genes13122285. ZHANG, T. - DONG, J.X. - JIANG, H. - ZHAO, Z.Y. - ZHOU, M.J. - YUAN, T.T. CNV-PCC: An efficient method for detecting copy number variations from next-generation sequencing data. In FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY. ISSN 2296-4185, DEC 1 2022, vol. 10. Dostupné na: https://doi.org/10.3389/fbioe.2022.1000638. DONG, H.J. - LI, Z.Q. - BIAN, S.C. - SONG, G.Y. - SONG, W.F. - ZHANG, M.Q. - XIE, H.Y. - ZHENG, S.S. - YANG, X.X. - LI, T.F. - SONG, P.H. Culture of patient-derived multicellular clusters in suspended hydrogel capsules for pre-clinical personalized drug screening. In BIOACTIVE MATERIALS. DEC 2022, vol. 18, p. 164-177. Dostupné na: https://doi.org/10.1016/j.bioactmat.2022.03.020. POKROVAC, I. - PEZER, Ä. Recent advances and current challenges in population genomics of structural variation in animals and plants. In FRONTIERS IN GENETICS. NOV 29 2022, vol. 13. Dostupné na: https://doi.org/10.3389/fgene.2022.1060898. ANTONY, I. - NARASIMHAN, M. - SHEN, R.A. - PRAKASAM, R. - KAUSHIK, K. - CHAPMAN, G. - KROLL, K.L. Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons. In STEM CELL REVIEWS AND REPORTS. ISSN 2629-3269, APR 2023, vol. 19, no. 3, p. 639-650. Dostupné na: https://doi.org/10.1007/s12015-022-10475-0. LIU, Z.W. - SU, R.B. - AHSAN, A. - LIU, C.C. - LIAO, X.Q. - TIAN, D.P. - SU, M. Esophageal Squamous Cancer from 4NQO-Induced Mice Model: CNV Alterations. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. NOV 2022, vol. 23, no. 22. Dostupné na: https://doi.org/10.3390/ijms232214304. DING, J.Y. - HUANG, M.J. - BIN H - PENG, X.Y. - WU, G.Z. - PENG, C.X. - ZHANG, H.Z. - MAO, C.F. - WU, X.H. Identification of a dysregulated ceRNA network modulated by copy number variation-driven lncRNAs in lung squamous cell carcinoma. In ENVIRONMENTAL AND MOLECULAR MUTAGENESIS. ISSN 0893-6692, AUG 2022, vol. 63, no. 7, p. 351-361. Dostupné na: https://doi.org/10.1002/em.22509. BELYAEVA, E.O. - LEBEDEV, I.N. Interloci CNV Interactions in Variability of the Phenotypes of Neurodevelopmental Disorders. In RUSSIAN JOURNAL OF GENETICS. ISSN 1022-7954, OCT 2022, vol. 58, no. 10, p. 1169-1179. Dostupné na: https://doi.org/10.1134/S1022795422100027. SHARAF-ELDIN, W. - RAFAT, K. - ELBAGOURY, N. - ZAKI, M. - ESSAWI, M. Egyptian female with 8q22.2q22.3 microdeletion syndrome. In HUMAN GENE. ISSN 2773-0441, SEP 2022, vol. 33. Dostupné na: https://doi.org/10.1016/j.humgen.2022.201028. MCMURTRY, V. - CANBERK, S. - DEFTEREOS, G. Molecular testing in fine-needle aspiration of thyroid nodules. In DIAGNOSTIC CYTOPATHOLOGY. ISSN 8755-1039, JAN 2023, vol. 51, no. 1, SI, p. 36-50. Dostupné na: https://doi.org/10.1002/dc.25035. FITZGERALD, T. - BIRNEY, E. CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank. In CELL GENOMICS. ISSN 2666-979X, AUG 10 2022, vol. 2, no. 8. Dostupné na: https://doi.org/10.1016/j.xgen.2022.100167. KUSMIREK, W. Different Strategies for Counting the Depth of Coverage in Copy Number Variation Calling Tools. In BIOINFORMATICS AND BIOLOGY INSIGHTS. ISSN 1177-9322, AUG 2022, vol. 16. Dostupné na: https://doi.org/10.1177/11779322221115534. LIU, Y. - LEI, C. - WANG, R.C. - YANG, D.H. - YANG, B.Y. - XU, Y.J. - LU, C.Y. - WANG, L. - DING, S.Z. - GUO, T. - LIU, S.K. - LUO, H. Case Report: Whole-Exome Sequencing-Based Copy Number Variation Analysis Identified a Novel iDRC1/i Homozygous Exon Deletion in a Patient With Primary Ciliary Dyskinesia. In FRONTIERS IN GENETICS. JUL 6 2022, vol. 13. Dostupné na: https://doi.org/10.3389/fgene.2022.940292. RUPP, B. - OWEN, S. - BALL, H. - SMITH, K.J. - GUNCHICK, V. - KELLER, E.T. - SAHAI, V. - NAGRATH, S. Integrated Workflow for the Label-Free Isolation and Genomic Analysis of Single Circulating Tumor Cells in Pancreatic Cancer. 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Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients. In EUROPEAN JOURNAL OF HUMAN GENETICS. ISSN 1018-4813, APR 2023, vol. 31, no. 4, p. 485-489. Dostupné na: https://doi.org/10.1038/s41431-022-01042-9. RAOS, D. - ABRAMOVIC, I. - TOMIC, M. - VRTARIC, A. - KULIS, T. - CORIC, M. - ULAMEC, M. - BOJANAC, A.K. - JEZEK, D. - SINCIC, N. CNV Hotspots in Testicular Seminoma Tissue and Seminal Plasma. In CANCERS. JAN 2022, vol. 14, no. 1. Dostupné na: https://doi.org/10.3390/cancers14010189. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2021 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1016/j.bj.2021.02.003 
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