Katarina Cisarova

Medical University of Graz — Austria

Biochemistry, Genetics and Molecular Biology · Life Sciences

12h-index870citations24works1.02yr avg
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Research Topics

Genomics and Rare Diseases(8), Retinal Development and Disorders(5), Genetics and Neurodevelopmental Disorders(5), Genomic variations and chromosomal abnormalities(4), Immunotherapy and Immune Responses(3)

Publications24 total

Aberrant methylation limits antitumoral inflammation in lung adenocarcinoma by restricting RIPK3 expression
Science Advances·2026Open Access
Targeting hexokinase 2 to induce breast cancer cell senescence
British Journal of Pharmacology·2025Open Access
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
The American Journal of Human Genetics·2025· 4 citedOpen Access
Recurrent Increased Nuchal Translucency Led to the Identification of Novel <i>NUP107</i> Variants
American Journal of Medical Genetics Part A·2024Open Access
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
PNAS Nexus·2023· 43 citedOpen Access
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening
Cancers·2022· 3 citedOpen Access
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
The American Journal of Human Genetics·2022· 82 citedOpen Access
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
Molecular Autism·2021· 17 citedOpen Access
A monoallelic<scp><i>SEC23A</i></scp>variant<scp>E599K</scp>associated with<scp>cranio‐lenticulo‐sutural</scp>dysplasia
American Journal of Medical Genetics Part A·2021· 7 citedOpen Access
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations
Genes·2021· 55 citedOpen Access
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma
Science Advances·2021· 8 citedOpen Access
<scp><i>CNOT2</i></scp> haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures
American Journal of Medical Genetics Part A·2021· 3 citedOpen Access
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
Communications Biology·2021· 19 citedOpen Access
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Nature Communications·2021· 159 citedOpen Access
Additional file 1 of De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures
Figshare·2021Open Access
Genomic and transcriptomic landscape of conjunctival melanoma
PLoS Genetics·2020· 35 citedOpen Access
Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study
2019· 4 citedOpen Access
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
Nature Communications·2019· 38 citedOpen Access
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
2018· 4 citedOpen Access
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders
The American Journal of Human Genetics·2017· 131 citedOpen Access
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Frequent Co-authors

Carlo Rivolta(13), Béryl Royer‐Bertrand(10), Andrea Superti‐Furga(9), Mathieu Quinodoz(7), Nicolò Riggi(4), Alexandre Moulin(4), Virginie G. Peter(4), Konstantinos Nikopoulos(4), Masato Akiyama(4), Fuyuki Miya(4), Shinji Ueno(4), Akira Murakami(4), Yuko Wada(4), Hiroko Terasaki(4), Koji M. Nishiguchi(4), Toru Nakazawa(4), Ikram El Zaoui(3), Rosanna Pescini Gobert(3), Michaël Nicolas(3), Nicola Bedoni(3)