| 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 | 169 | 2016 |
| NANS-mediated synthesis of sialic acid is required for brain and skeletal development CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ... Nature Genetics 48 (7), 777-784, 2016 | 149 | 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 | 104 | 2017 |
| Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator L Allou, S Balzano, A Magg, M Quinodoz, B Royer-Bertrand, R Schöpflin, ... Nature 592 (7852), 93-98, 2021 | 89 | 2021 |
| EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay S Volpi, Y Yamazaki, PM Brauer, E van Rooijen, A Hayashida, ... Journal of Experimental Medicine 214 (3), 623-637, 2017 | 81 | 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 | 79 | 2021 |
| Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia B Royer-Bertrand, S Castillo-Taucher, R Moreno-Salinas, TJ Cho, ... Scientific reports 5 (1), 17154, 2015 | 78 | 2015 |
| NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina NG Segarra, D Ballhausen, H Crawford, M Perreau, B Campos‐Xavier, ... American Journal of Medical Genetics Part A 167 (12), 2902-2912, 2015 | 72 | 2015 |
| UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation C Rivolta, B Royer-Bertrand, D Rimoldi, A Schalenbourg, L Zografos, ... Journal of human genetics 61 (4), 361-362, 2016 | 61 | 2016 |
| 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 | 50 | 2016 |
| Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility N Bedoni, L Haer-Wigman, V Vaclavik, VH Tran, P Farinelli, S Balzano, ... Human molecular genetics 25 (20), 4546-4555, 2016 | 40 | 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 | 38 | 2022 |
| Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer B Royer-Bertrand, C Rivolta Cellular and Molecular Life Sciences 72, 1463-1471, 2015 | 29 | 2015 |
| 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 | 25 | 2021 |
| 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 | 23 | 2020 |
| Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease L Bonafé, A Kariminejad, J Li, B Royer‐Bertrand, V Garcia, S Mahdavi, ... Arthritis & Rheumatology 68 (9), 2323-2327, 2016 | 23 | 2016 |
| Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant B Royer‐Bertrand, P Tsouni, P Mullen, B Campos Xavier, L Mittaz Crettol, ... Annals of clinical and translational neurology 6 (6), 1072-1080, 2019 | 20 | 2019 |
| Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature F Bastos, M Quinodoz, MC Addor, B Royer-Bertrand, H Fodstad, C Rivolta, ... BMC neurology 20, 1-6, 2020 | 15 | 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 | 13 | 2021 |
| Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes E Thompson, E Abdalla, A Superti-Furga, W McAlister, L Kratz, S Unger, ... Bone 120, 354-363, 2019 | 13 | 2019 |
Andrea Superti-FurgaProfessor of Pediatrics and Genetic Medicine, University of LausanneDirección de correo verificada de unil.ch
