Author

Lenka Nosková

Charles UniversityORCID 0000-0001-7011-4327Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:DNA methylation· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Organism:mouse· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Stanislav KmochiD· 3 shared Antonio VitobelloiD· 2 shared Isabelle ThiffaultiD· 2 shared Agnar HelgasoniD· 1 shared Alan KádekiD· 1 shared Aleš Hnı́zdaiD· 1 shared Alexandre ReymondiD· 1 shared Alfredo BruscoiD· 1 shared

Activity by Year

2022-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Stanislav KmochORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedSep 1, 2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M. Nodelman…·Hans Tomas Bjornsson

The paper investigates sex-specific penetrance in PILBOS, showing male overrepresentation and androgen-mediated sexual dimorphism through genetic and mouse model studies.

2 citations

mousehuman

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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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Genetic & Genomic MedicinemedRxivPreprintSep 29, 2022

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano…·Gregory M. Cooper

The paper identifies ZMYM3 variants in 22 individuals with neurodevelopmental delay, showing recurrent mutations, phenotypic overlap, and functional effects, supporting ZMYM3 as a novel NDD gene.

DOI 10.1101/2022.09.29.22279724

humanstatistical model

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