Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Vizar Cisarova Katarina |
** = Publikationen gelistet in SCI/SSCI/Pubmed
2026
Originalarbeit (Zeitschrift)
** Agrawal, D; Cisarova, K; Vosberg, S; Allmendinger, F; Munkhbaatar, E; Dandachi, N; Fernandez, Hernandez, FJ; Tonietto, M; Jäger, V; Anton, M; Keller, EC; Jesinghaus, M; Meinhardt, AL; Haefner, V; Stoeger, T; Steiger, K; McGranahan, N; Dengler, MA; Wahida, A; Jost, PJ
Aberrant methylation limits antitumoral inflammation in lung adenocarcinoma by restricting RIPK3 expression.
Sci Adv. 2026; 12(4):eadz9227
Doi: 10.1126/sciadv.adz9227
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2025
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** Bischof, H; Cisarova, K; Burgstaller, S; Schwerer, M; Absenger-Novak, M; Jost, PJ; Malli, R; Graier, WF; Lukowski, R
Targeting hexokinase 2 to induce breast cancer cell senescence.
Br J Pharmacol. 2025;
Doi: 10.1111/bph.70282
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** Guillouet, C; Agostini, V; Baujat, G; Cocciadiferro, D; Pippucci, T; Lesieur-Sebellin, M; Georget, M; Schatz, U; Fauth, C; Louie, RJ; Rogers, C; Davis, JM; Konstantopoulou, V; Mayr, JA; Bouman, A; Wilke, M; VanNoy, GE; England, EM; Park, KL; Brown, K; Saenz, M; Novelli, A; Digilio, MC; Mastromoro, G; Rongioletti, MCA; Piacentini, G; Kaiyrzhanov, R; Guliyeva, S; Hasanova, L; Shears, D; Bhatnagar, I; Stals, K; Klaas, O; Horvath, J; Bouvagnet, P; Witmer, PD; MacCarrick, G; Cisarova, K; Good, JM; Gorokhova, S; Boute, O; Smol, T; Bruel, AL; Patat, O; Broadbent, JR; Tan, TY; Tan, NB; Lyonnet, S; Busa, T; Graziano, C; Amiel, J; Gordon, CT, , University, of, Washington, Center, for, Mendelian, Genomics
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.
Am J Hum Genet. 2025;
Doi: 10.1016/j.ajhg.2025.02.016
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Abstract (Zeitschrift)
** Chaida, P; Frimmel, J; Hopfer, L; Gruden, E; Perfler, B; Kailasnathan, A; Bramreiter, B; Folsselteder, J; Wurm, S; Neiss, J; Koeck, S; Wolf, D; Ratzinger, G; Tabrizi-Wizsy, NG; Glebova, K; Rinner, B; Fechter, K; Cisarova, KV; Höfler, G; Kashofer, K; Baldus, C; Stoelzel, F; Heine, A; Woelfler, A; Sill, H; Reinisch, A; Zebisch, A
RAS mutations are frequent in extramedullary AML and drive the tissue infiltration of leukemic cells via the induction of jaml
BLOOD. 2025; 146: 659-660.
Doi: 10.1182/blood-2025-659
[Oral Communication]
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** Dutta, S; Cisarova, K; Lind, K; Rezania, S; Lyssy, F; Zöscher, F; Vosberg, S; Zebisch, A; Wölfler, A; Pabst, G; Fosselteder, J; Reinisch, A; Sill, H
Mesenchymal stromal cells mediate drug resistance in leukemic cells by modulating their intrinsic inflammation
ANN HEMATOL. 2025; 104(1):S56-S56.-Symposium Proceedings of the international symposium ACUTE LEUKEMIAS XIX (ISALXIX); MAR 16–19, 2025; Munich, GERMANY.
[Poster]
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2023
Originalarbeit (Zeitschrift)
** Peter, VG; Kaminska, K; Santos, C; Quinodoz, M; Cancellieri, F; Cisarova, K; Pescini, Gobert, R; Rodrigues, R; Custódio, S; Paris, LP; Sousa, AB; Coutinho, Santos, L; Rivolta, C
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS Nexus. 2023; 2(3): pgad043
Doi: 10.1093/pnasnexus/pgad043
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2022
Originalarbeit (Zeitschrift)
** Nardou, K; Nicolas, M; Kuttler, F; Cisarova, K; Celik, E; Quinodoz, M; Riggi, N; Michielin, O; Rivolta, C; Turcatti, G; Moulin, AP
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.
Cancers (Basel). 2022; 14(6):
Doi: 10.3390/cancers14061575
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** Quinodoz, M; Peter, VG; Cisarova, K; Royer-Bertrand, B; Stenson, PD; Cooper, DN; Unger, S; Superti-Furga, A; Rivolta, C
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Am J Hum Genet. 2022; 109(3): 457-470.
Doi: 10.1016/j.ajhg.2022.01.006
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Fallbericht
** Cisarova, K; Garavelli, L; Caraffi, SG; Peluso, F; Valeri, L; Gargano, G; Gavioli, S; Trimarchi, G; Neri, A; Campos-Xavier, B; Superti-Furga, A
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Am J Med Genet A. 2022; 188(1): 319-325.
Doi: 10.1002/ajmg.a.62506
(- Case Report)
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2021
Originalarbeit (Zeitschrift)
** Keskin, T; Rucci, B; Cornaz-Buros, S; Martin, P; Fusco, C; Broye, L; Cisarova, K; Perez, EM; Letovanec, I; La, Rosa, S; Cherix, S; Diezi, M; Renella, R; Provero, P; Suvà, ML; Stamenkovic, I; Riggi, N
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma.
Sci Adv. 2021; 7(27):
Doi: 10.1126/sciadv.abf9394
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** Quinodoz, M; Peter, VG; Bedoni, N; Royer, Bertrand, B; Cisarova, K; Salmaninejad, A; Sepahi, N; Rodrigues, R; Piran, M; Mojarrad, M; Pasdar, A; Ghanbari, Asad, A; Sousa, AB; Coutinho, Santos, L; Superti-Furga, A; Rivolta, C
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
Nat Commun. 2021; 12(1): 518
Doi: 10.1038/s41467-020-20584-4
[OPEN ACCESS]
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** Royer-Bertrand, B; Cisarova, K; Niel-Butschi, F; Mittaz-Crettol, L; Fodstad, H; Superti-Furga, A
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.
Genes (Basel). 2021; 12(9):
Doi: 10.3390/genes12091427
[OPEN ACCESS]
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** Royer-Bertrand, B; Jequier, Gygax, M; Cisarova, K; Rosenfeld, JA; Bassetti, JA; Moldovan, O; O'Heir, E; Burrage, LC; Allen, J; Emrick, LT; Eastman, E; Kumps, C; Abbas, S; Van, Winckel, G; Chabane, N; Zackai, EH; Lebon, S; Keena, B; Bhoj, EJ; Umair, M; Li, D; Donald, KA; Superti-Furga, A, , Undiagnosed, Diseases, Network
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Mol Autism. 2021; 12(1): 69
Doi: 10.1186/s13229-021-00473-3
[OPEN ACCESS]
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Fallbericht
** Royer-Bertrand, B; Cisarova, K; Niel, Bütschi, F; Foletti, G; Guinchat, V; Tran, C; Superti-Furga, A; Good, JM
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Am J Med Genet A. 2021; 185(8): 2602-2606.
Doi: 10.1002/ajmg.a.62343
(- Case Report)
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2020
Originalarbeit (Zeitschrift)
** Cisarova, K; Folcher, M; El, Zaoui, I; Pescini-Gobert, R; Peter, VG; Royer-Bertrand, B; Zografos, L; Schalenbourg, A; Nicolas, M; Rimoldi, D; Leyvraz, S; Riggi, N; Moulin, AP; Rivolta, C
Genomic and transcriptomic landscape of conjunctival melanoma.
PLoS Genet. 2020; 16(12): e1009201
Doi: 10.1371/journal.pgen.1009201
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2017
Originalarbeit (Zeitschrift)
** Quinodoz, M; Royer-Bertrand, B; Cisarova, K; Di, Gioia, SA; Superti-Furga, A; Rivolta, C
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
Am J Hum Genet. 2017; 101(4): 623-629.
Doi: 10.1016/j.ajhg.2017.09.001
[OPEN ACCESS]
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2016
Originalarbeit (Zeitschrift)
** Royer-Bertrand, B; Torsello, M; Rimoldi, D; El, Zaoui, I; Cisarova, K; Pescini-Gobert, R; Raynaud, F; Zografos, L; Schalenbourg, A; Speiser, D; Nicolas, M; Vallat, L; Klein, R; Leyvraz, S; Ciriello, G; Riggi, N; Moulin, AP; Rivolta, C
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
Am J Hum Genet. 2016; 99(5): 1190-1198.
Doi: 10.1016/j.ajhg.2016.09.008
[OPEN ACCESS]
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Fallbericht
** Nikopoulos, K; Farinelli, P; Giangreco, B; Tsika, C; Royer-Bertrand, B; Mbefo, MK; Bedoni, N; Kjellström, U; El, Zaoui, I; Di, Gioia, SA; Balzano, S; Cisarova, K; Messina, A; Decembrini, S; Plainis, S; Blazaki, SV; Khan, MI; Micheal, S; Boldt, K; Ueffing, M; Moulin, AP; Cremers, FPM; Roepman, R; Arsenijevic, Y; Tsilimbaris, MK; Andréasson, S; Rivolta, C
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
Am J Hum Genet. 2016; 99(3): 770-776.
Doi: 10.1016/j.ajhg.2016.07.009
(- Case Report)
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2013
Originalarbeit (Zeitschrift)
** Fontanesi, L; Scotti, E; Cisarova, K; Di, Battista, P; Dall'olio, S; Fornasini, D; Frabetti, A
A missense mutation in the rabbit melanocortin 4 receptor (MC4R) gene is associated with finishing weight in a meat rabbit line.
Anim Biotechnol. 2013; 24(4): 268-77.
Doi: 10.1080/10495398.2013.781034
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