Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Logo MUG-Forschungsportal

Vizar Cisarova Katarina |

** = Publikationen gelistet in SCI/SSCI/Pubmed

2025

Originalarbeit (Zeitschrift)

** 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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** 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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** 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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** 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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

** 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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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)
Web of Science PubMed FullText FullText_MUG

 

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 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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) [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG

 

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
Web of Science PubMed FullText FullText_MUG

 

↑ Seitenanfang / Navigation

© Med Uni Graz • Impressum