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
2022
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Exómové sekvenovanie ako účinný nástroj pre detekciu intragénových variantov v počte kópií u detských pacientov s neurovývojovými ochoreniami
Year: 2022, type: Appeared in Conference without Proceedings
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Klinický benefit celoexomového sekvenování pro detekci vzácných genetických variant u dětských pacientů s neurovývojovými poruchami a vzácnými onemocněními
Year: 2022, type: Appeared in Conference without Proceedings
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National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review
Genes, year: 2022, volume: 13, edition: 3, DOI
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Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
Journal of Human Genetics, year: 2022, volume: 67, edition: 4, DOI
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The clinical benefit of trio-based whole-exome sequencing for the detection of rare pathogenic sequence variants in paediatric patients with undiagnosed neurodevelopmental disorders
Year: 2022, type: Conference abstract
2021
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Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype
Frontiers in Genetics, year: 2021, volume: 12, edition: October, DOI
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Effectivity of whole-exome sequencing in copy number variant detection in children with neurodevelopmental disorders
Year: 2021, type: Conference abstract
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Whole-exome sequencing as an effective tool for the detection of DNA sequence and structural variants in the pathogenesis of neurodevelopmental disorders
Year: 2021, type: Conference abstract
2019
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"Two hit" model as an explanation of variable expressivity of recurrent submicroscopic chromosomal rearrangements in children with intellectual disability and developmental delay
Year: 2019, type: Conference abstract
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Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
Year: 2019, type: Conference abstract