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Copy number variation: methods and clinical applications
Title Copy number variation: methods and clinical applications Author Pos Ondrej Co-authors Radvánszky Ján 1982- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV Styk J. Pös Zuzana SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV SCOPUS RID ORCID Buglyo Gergely Kajsik Michal Budiš J. Nagy B. Szemes Tomáš Source document Applied Sciences-Basel. Vol. 11, no. 2 (2021), art. no. 819 Language eng - English Country CH - Switzerland Note open access URL URL link Document kind rozpis článkov z periodík (rbx) Citations KOTHARY, A.S. - MAHENDRA, C. - TAN, M.C. - TAN, E.J.M. - YI, J.P.H. - GABRIELLA - JOCELYN, T.X.H. - HARUMAN, J.S. - TAN, Z.H. - LEE, C.K. - LEZHAVA, A. - YAN, B. - IRWANTO, A. Validation of a multi-gene qPCR-based pharmacogenomics panel across major ethnic groups in Singapore and Indonesia. In PHARMACOGENOMICS. ISSN 1462-2416, SEP 2021, vol. 22, no. 16, p. 1041-1056. GEOFFROY, V. - GUIGNARD, T. - KRESS, A. - GAILLARD, J.B. - SOLLI-NOWLAN, T. - SCHALK, A. - GATINOIS, V. - DOLLFUS, H. - SCHEIDECKER, S. - MULLER, J. AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis. In NUCLEIC ACIDS RESEARCH. ISSN 0305-1048, JUL 2 2021, vol. 49, no. W1, p. W21-W28. BüKI, G. - TILL, A. - ZSIGMOND, A. - BENE, J. - HADZSIEV, K. Molecular characterization and clinical heterogeneity. In ORVOSI HETILAP. ISSN 0030-6002, DEC 2022, vol. 163, no. 51, p. 2041-2051. Dostupné na: https://doi.org/10.1556/650.2022.32673. 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. SKOWRONEK, D. - PILZ, R.A. - BONDE, L. - SCHAMUHN, O.J. - FELDMANN, J.L. - HOFFJAN, S. - MUCH, C.D. - FELBOR, U. - RATH, M. Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in iCCM/i Genes. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. DEC 2022, vol. 23, no. 24. Dostupné na: https://doi.org/10.3390/ijms232415639. JIMéNEZ-SANTOS, M.J. - GARCíA-MARTíN, S. - FUSTERO-TORRE, C. - DI DOMENICO, T. - GóMEZ-LóPEZ, G. - AL-SHAHROUR, F. Bioinformatics roadmap for therapy selection in cancer genomics. In MOLECULAR ONCOLOGY. ISSN 1574-7891, NOV 2022, vol. 16, no. 21, p. 3881-3908. Dostupné na: https://doi.org/10.1002/1878-0261.13286. WORKALEMAHU, T. - DALTON, S. - ALLSHOUSE, A. - CAREY, A.Z. - PAGE, J.M. - BLUE, N.R. - THORSTEN, V. - GOLDENBERG, R.L. - PINAR, H. - REDDY, U.M. - SILVER, R.M. Copy number variants and placental abnormalities in stillborn fetuses: A secondary analysis of the Stillbirth Collaborative Research Network study. In BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY. ISSN 1470-0328, DEC 2022, vol. 129, no. 13, p. 2125-2131. Dostupné na: https://doi.org/10.1111/1471-0528.17269. JEFFREYS, S.A. - BECKER, T.M. - KHAN, S. - SOON,p - NEUBAUER, H. - SOUZA, P.D. - POWTER, B. Prognostic and Predictive Value of iCCND1/i/Cyclin D1 Amplification in Breast Cancer With a Focus on Postmenopausal Patients: A Systematic Review and Meta-Analysis. In FRONTIERS IN ENDOCRINOLOGY. ISSN 1664-2392, JUN 17 2022, vol. 13. Dostupné na: https://doi.org/10.3389/fendo.2022.895729. ANDONEGUI-ELGUERA, S. - SILVA-ROMáN, G. - PEñA-MARTíNEZ, E. - TANIGUCHI-PONCIANO, K. - VELA-PATIñO, S. - REMBA-SHAPIRO, I. - GóMEZ-APO, E. - ESPINOSA-DE-LOS-MONTEROS, A.L. - PORTOCARRERO-ORTIZ, L.A. - GUINTO, G. - MORENO-JIMENEZ, S. - CHAVEZ-MACIAS, L. - SAUCEDO, R. - BASURTO-ACEVEDO, L. - LOPEZ-FELIX, B. - GONZALEZ-TORRES, C. - GAYTAN-CERVANTES, J. - AYALA-SUMUANO, J.T. - BURAK-LEIPUNER, A. - MARRERO-RODRíGUEZ, D. - MERCADO, M. The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. MAY 2022, vol. 23, no. 9. Dostupné na: https://doi.org/10.3390/ijms23094861. ARJMAND, B. - HAMIDPOUR, S.K. - TAYANLOO-BEIK, A. - GOODARZI, P. - AGHAYAN, H.R. - ADIBI, H. - LARIJANI, B. Machine Learning: A New Prospect in Multi-Omics Data Analysis of Cancer. In FRONTIERS IN GENETICS. JAN 27 2022, vol. 13. Dostupné na: https://doi.org/10.3389/fgene.2022.824451. ZELENOVA, M.A. - IOUROV, I.Y. Possibilities and Limitations of CNV Interpretation Software and Algorithms in iHomo Sapiens/i. In CURRENT BIOINFORMATICS. ISSN 1574-8936, 2022, vol. 17, no. 10, p. 883-887. Dostupné na: https://doi.org/10.2174/1574893617666220907121155. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2021 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.3390/app11020819 
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