Author

Tereza Kmochová

Charles UniversityORCID 0009-0001-6677-7029Unclaimed 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:long-read sequencing· 1 Assay:proteomics· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anthony J. BleyeriD· 3 shared Dita MušálkováiD· 3 shared Hana HartmannováiD· 3 shared Helena TrešlováiD· 3 shared Kateřina HodaňováiD· 3 shared Martin RadinaiD· 3 shared Martina ŽivnáiD· 3 shared Stanislav KmochiD· 3 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

Anthony J. BleyerORCID

Mutual co-authors in cluster

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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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GeneticsJournal of the American Society of NephrologyPeer-reviewedApr 10, 2026

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression

Alena Vrbacká, Anna Přistoupilová, Kendrah O. Kidd…·Stanislav Kmoch

This study uses long-read sequencing to characterize MUC1 VNTR variation in ADTKD-MUC1, identifying frameshift mutations and their association with disease progression.

7 citationstop 1%

humanlong-read sequencing

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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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