Author

Lea Pavlovičová

Charles UniversityORCID 0009-0002-7534-7693Unclaimed 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 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Hana HartmannováiD· 2 shared Helena TrešlováiD· 2 shared Jakub SikoraiD· 2 shared Kateřina HodaňováiD· 2 shared Stanislav KmochiD· 2 shared Viktor StráneckýiD· 2 shared Abbigail TayloriD· 1 shared Abhijit DixitiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hana HartmannováORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

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

Klára Svojšová, Kendrah O. Kidd, Dita Mušálková, Tereza Kmochová, Hana Hartmannová, Kateřina Hodaňová, Viktor Stránecký, Veronika Barešová, Helena Trešlová, Martin Radina, Lea Pavlovičová, Jakub Sikora, Abbigail Taylor, Lauren Martin, Antonio Sanchez, , 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.

medRxiv · Aug 3, 2026 · PreprintGenetic & Genomic Medicine

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, Javier Alonso, Jeanne Amiel, Tania Attié‐Bitach, Ariadna Bada-Navarro, Beatriz Baladrón, Eva Bermejo, Vítězslav Brinsa, Ivana Buková, Rosario Cazorla-Calleja, Sylvie Cervenkova, Shanshan Chow, Petr Dušek, , Lenka Nosková

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

Nature Communications · Jul 1, 2026Peer-reviewedGenetics