Author

Jakub Sikora

Charles UniversityORCID 0000-0003-4104-2023Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:cell type annotation· 1 Assay:DNA methylation· 1 Assay:proteomics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Hana HartmannováiD· 3 shared Helena TrešlováiD· 3 shared Kateřina HodaňováiD· 3 shared Stanislav KmochiD· 3 shared Viktor StráneckýiD· 3 shared Aleš Hnı́zdaiD· 2 shared Anthony J. BleyeriD· 2 shared Dita MušálkováiD· 2 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Hana HartmannováORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 3, 2026

Recurrent Single-Nucleotide Insertions in the Mitochondrial Second Light-Strand Promoter Cause Tubulointerstitial Kidney Disease

Klára Svojšová, Kendrah O. Kidd, Dita Mušálková…·Stanislav Kmoch

The paper identifies recurrent mtDNA variants, particularly in the LSP2 promoter, as a cause of tubulointerstitial kidney disease in families with maternal inheritance.

DOI 10.64898/2026.07.31.26359118

humanwhole-genome sequencing

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GeneticsNature CommunicationsPeer-reviewedJul 1, 2026

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

Aleš Hnı́zda, Beatriz Martínez–Delgado, Diana Sánchez-Ponce…·Lenka Nosková

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

1 citation

humanDNA methylation

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Molecular BiologybioRxivPreprintSep 27, 2022

AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?

Martina Živná, Gabriela Dostálová, Veronika Barešová…·Stanislav Kmoch

This study identifies defective proteostasis of mutated AGAL causing ER stress and UPR in non-classic Fabry disease, independent of lysosomal storage.

6 citations

humanproteomics

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