Jakub Sikora

12PUBLICATIONS
56CO-AUTHORS
Cell and nuclear divisionGene expression (incl. microarray and other genome-wide approaches)AutoimmunityLiquid biopsiesDevelopmental genetics (incl. sex determination)
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Publications (12)

|Aug 20, 2026
Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease.

|Feb 27, 2026
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Lenka Steiner Mrázová, Alena Vrbacká, Filip Majer

|Oct 03, 2023
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.

Lenka Murgasova, Helena Hulkova, Veronika Baresova

|Sep 09, 2022
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency.

Jitka Rybova, Ladislav Kuchar, Jakub Sikora

|Mar 26, 2022
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Martin Řeboun, Jakub Sikora, Martin Magner

|Jun 14, 2020
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Bohdan Kousal, Filip Majer, Hana Vlaskova

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Frequent Collaborators

3 joint publications

Filip Majer

2 joint publications

Lenka Dvorakova

2 joint publications

Viktor Stránecký

1 joint publications

Maxime Cadieux-Dion