Lenka Nosková

6PUBLICATIONS
61CO-AUTHORS
Epidemiological modellingGene expression (incl. microarray and other genome-wide approaches)Optical technologyEpigenetics (incl. genome methylation and epigenomics)Craniofacial biology
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Publications (6)

|Jul 01, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

|Feb 27, 2026
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Lenka Steiner Mrázová, Alena Vrbacká, Filip Majer

|Apr 14, 2025
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.

Lubica Dudakova, Lenka Noskova, Stanislav Kmoch

|Nov 13, 2023
ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.

Lenka Nosková, Yuko Fukata, Viktor Stránecký

|Jun 29, 2023
Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.

Ange-Line Bruel, Anil Kumar Ganga, Lenka Nosková

|Apr 28, 2020
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.

Ivana Jedličková, Anna Přistoupilová, Lenka Nosková

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Frequent Collaborators

4 joint publications

Viktor Stránecký

3 joint publications

Hana Hartmannová

3 joint publications

Stanislav Kmoch

2 joint publications

Ivana Jedličková