Marie Vajter

4PUBLICATIONS
176CO-AUTHORS
Sensory systemsNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene mapping
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Publications (4)

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Apr 13, 2024
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Andrea Vergaro, Monika Pankievic, Jana Jedlickova

|Mar 28, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi

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Frequent Collaborators

4 joint publications

Lubica Dudakova

4 joint publications

Petra Liskova

3 joint publications

Carlo Rivolta

3 joint publications

Raj Ramesar