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Stanislav Kmoch

10PUBLICATIONS
115CO-AUTHORS
Epidemiological modellingNeurogeneticsOptical technologyPeripheral nervous systemEpigenetics (incl. genome methylation and epigenomics)
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Journal

Publications (10)

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

|Apr 02, 2026
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

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

Lubica Dudakova, Lenka Noskova, Stanislav Kmoch

|Nov 28, 2024
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

Wen-Chin Weng, Vaclava Skopova, Veronika Baresova

|Feb 15, 2024
Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.

Dita Mušálková, Anna Přistoupilová, Ivana Jedličková

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Frequent Collaborators

3 joint publications

Lenka Nosková

3 joint publications

Viktor Stránecký

3 joint publications

Hana Hartmannová

2 joint publications

Valeria Capra

2 joint publications

Michele Carullo

2 joint publications

Bert Callewaert

2 joint publications

Breanne Dale

2 joint publications

Bertrand Chesneau

2 joint publications

Pierre Blanc

2 joint publications

Camille Engel

Frequent Collaborators

3 joint publications

Lenka Nosková

3 joint publications

Viktor Stránecký

3 joint publications

Hana Hartmannová

2 joint publications

Valeria Capra