| Comprehensive genetic landscape of uveal melanoma by whole-genome sequencing B Royer-Bertrand, M Torsello, D Rimoldi, I El Zaoui, K Cisarova, ... The American Journal of Human Genetics 99 (5), 1190-1198, 2016 | 173 | 2016 |
| DOMINO: using machine learning to predict genes associated with dominant disorders M Quinodoz, B Royer-Bertrand, K Cisarova, SA Di Gioia, A Superti-Furga, ... The American Journal of Human Genetics 101 (4), 623-629, 2017 | 111 | 2017 |
| AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data M Quinodoz, VG Peter, N Bedoni, B Royer Bertrand, K Cisarova, ... Nature communications 12 (1), 518, 2021 | 83 | 2021 |
| Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defects K Nikopoulos, P Farinelli, B Giangreco, C Tsika, B Royer-Bertrand, ... The American Journal of Human Genetics 99 (3), 770-776, 2016 | 52 | 2016 |
| Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity M Quinodoz, VG Peter, K Cisarova, B Royer-Bertrand, PD Stenson, ... The American Journal of Human Genetics 109 (3), 457-470, 2022 | 43 | 2022 |
| A missense mutation in the rabbit melanocortin 4 receptor (MC4R) gene is associated with finisching weight in a meat rabbit line L Fontanesi, E Scotti, K Cisarova, PD Battista, S Dall'Olio, D Fornasini, ... Animal biotechnology 24 (4), 268-277, 2013 | 32 | 2013 |
| CNV detection from exome sequencing data in routine diagnostics of rare genetic disorders: opportunities and limitations B Royer-Bertrand, K Cisarova, F Niel-Butschi, L Mittaz-Crettol, H Fodstad, ... Genes 12 (9), 1427, 2021 | 29 | 2021 |
| A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy K Nikopoulos, K Cisarova, M Quinodoz, H Koskiniemi-Kuendig, N Miyake, ... Nature communications 10 (1), 2884, 2019 | 28 | 2019 |
| Genomic and transcriptomic landscape of conjunctival melanoma K Cisarova, M Folcher, I El Zaoui, R Pescini-Gobert, VG Peter, ... PLoS genetics 16 (12), e1009201, 2020 | 24 | 2020 |
| De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures B Royer-Bertrand, M Jequier Gygax, K Cisarova, JA Rosenfeld, ... Molecular Autism 12, 1-11, 2021 | 14 | 2021 |
| The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis VG Peter, K Kaminska, C Santos, M Quinodoz, F Cancellieri, K Cisarova, ... PNAS nexus 2 (3), pgad043, 2023 | 12 | 2023 |
| A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa KM Nishiguchi, F Miya, Y Mori, K Fujita, M Akiyama, T Kamatani, ... Communications biology 4 (1), 140, 2021 | 11 | 2021 |
| A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma T Keskin, B Rucci, S Cornaz-Buros, P Martin, C Fusco, L Broye, ... Science Advances 7 (27), eabf9394, 2021 | 8 | 2021 |
| CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures B Royer-Bertrand, K Cisarova, F Niel Bütschi, G Foletti, V Guinchat, ... Am J Med Genet A 185, 2602-2606, 2021 | 4 | 2021 |
| A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia K Cisarova, L Garavelli, SG Caraffi, F Peluso, L Valeri, G Gargano, ... American Journal of Medical Genetics Part A 188 (1), 319-325, 2022 | 3 | 2022 |
| A large-scale genetic analysis of inherited retinal diseases in the Portuguese population identifies a unique pattern of mutations K Kaminska, VG Peter, C Santos, M Quinodoz, F Cancellieri, K Cisarova, ... Investigative Ophthalmology & Visual Science 64 (8), 2792-2792, 2023 | | 2023 |
| Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening K Nardou, M Nicolas, F Kuttler, K Cisarova, E Celik, M Quinodoz, N Riggi, ... Cancers 14 (6), 1575, 2022 | | 2022 |
| AutoMap: High performance homozygosity mapping using sequencing data M Quinodoz, V Peter, N Bedoni, BR Bertrand, K Cisarova, ... European Journal of Human Genetics 28 (SUPPL 1), 657-657, 2020 | | 2020 |
| Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study KM Nishiguchi, F Miya, Y Mori, K Fujita, M Akiyama, T Kamatani, ... bioRxiv, 859744, 2019 | | 2019 |
| DOMINO: a bioinformatic tool for the identification of dominant disease genes M Quinodoz, B Royer-Bertrand, K Cisarova, SA Di Gioia, A Superti-Furga, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 716-716, 2018 | | 2018 |
