Mgr. Jan Smetana, Ph.D.
Researcher II, Section of Genetics and Molecular Biology
Office: bldg. C03/333
Kamenice 753/5
625 00 Brno
Phone: | +420 549 49 7640 |
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E‑mail: |
Total number of publications: 86
2019
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Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
Molecular Medicine Reports, year: 2019, volume: 20, edition: 1, DOI
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The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
BMC MEDICAL GENOMICS, year: 2019, volume: 12, edition: 1, DOI
2018
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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
MOLECULAR CYTOGENETICS, year: 2018, volume: 11, edition: JAN, DOI
2017
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The clinical impact of targeted „next-generation“ sequencing in molecular diagnostics of intellectual disabilities and multiple congenital abnormalities
Year: 2017, type: Appeared in Conference without Proceedings
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The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant
Year: 2017, type: Conference abstract
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The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma
Haematologica, year: 2017, volume: 102, edition: 9, DOI
2016
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Clonal cytogenetics changes in progression of multiple myeloma to extramedullary relapse and plasmocellular leukemia: a case report
International Journal of Clinical and Experimental Pathology, year: 2016, volume: 9, edition: 1
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Detection of oncogenic mutations in cervical carcinoma using method "High Resolution Melting" (HRM).
Neoplasma, year: 2016, volume: 63, edition: 5, DOI
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Genomewide profiling of copy-number alteration in monoclonal gammopathy of undetermined significance
European Journal of Haematology, year: 2016, volume: 97, edition: 6, DOI
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Whole genome amplification effect on segmental copy-number changes and copy-number neutral loss of heterozygosity analysis by oligonucleotide-array based comparative genomic hybridization in human myeloma cell line
International Journal of Clinical and Experimental Pathology, year: 2016, volume: 9, edition: 7