Jan Smetana

Brno, JM, Czech Republic

Last Updated: 09/26/2026

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Found 17 publications

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Journal: Orphanet journal of rare diseases
Published: June 25, 2023

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report.

Journal: Molecular medicine reports
Published: October 05, 2022

National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review.

National Genome Initiatives in Europe and the United Kingdom in the Era of Whole-Genome Sequencing: A Comprehensive Review.

Journal: Genes
Published: February 09, 2022

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development.

Journal: Journal of human genetics
Published: August 06, 2021

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.

Journal: Frontiers in genetics
Published: July 30, 2021

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.

Journal: Molecular medicine reports
Published: October 11, 2018

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.

The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay.

Journal: BMC medical genomics
Published: September 05, 2018

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse.

Journal: Molecular cytogenetics
Published: November 22, 2017

The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma.

The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma.

Journal: Haematologica
Published: January 10, 2017

Detection of oncogenic mutations in cervical carcinoma using method High Resolution Melting (HRM).

Detection of oncogenic mutations in cervical carcinoma using method High Resolution Melting (HRM).

Journal: Neoplasma
Published: July 30, 2016

Genomewide profiling of copy-number alteration in monoclonal gammopathy of undetermined significance.

Genomewide profiling of copy-number alteration in monoclonal gammopathy of undetermined significance.

Journal: European journal of haematology
Published: April 29, 2016

First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization

First experiences with preimplantation genetic screening of chromosomal aberrations using oligonucleotide-based array comparative genomic hybridization

Journal: Casopis lekaru ceskych
Published: August 28, 2015
Showing 1-12 of 17

Last Updated: 09/26/2026