Author

Alena Vrbacká

Charles UniversityORCID 0000-0003-4640-1646Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anthony J. BleyeriD· 2 shared Christoforos StavrouiD· 2 shared Constantinos C. DeltasiD· 2 shared Elhussein A. E. ElhassaniD· 2 shared Gregory PapagregoriouiD· 2 shared Kateřina HodaňováiD· 2 shared Kendrah O. KiddiD· 2 shared Lauren Martin· 2 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Anthony J. BleyerORCID

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2 papers

Recent·Most cited

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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Genetic & Genomic MedicineBMC NephrologyPeer-reviewedDec 18, 2024

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational Study

Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor…·Anthony J. Bleyer

This study finds that individuals with ADTKD-MUC1 have an eight-fold higher risk of COVID-19 mortality compared to ADTKD-UMOD individuals, possibly due to reduced mucin-1 production.

1 citation

humanstatistical model

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