| Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome SAD Gioia, N Bedoni, A von Scheven-Gête, F Vanoni, A Superti-Furga, ... Scientific reports 5 (1), 10200, 2015 | 96 | 2015 |
| 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 |
| A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans S Khateb, B Kowalewski, N Bedoni, M Damme, N Pollack, A Saada, ... Genetics in medicine 20 (9), 1004-1012, 2018 | 54 | 2018 |
| acr-23 Encodes a Monepantel-Sensitive Channel in Caenorhabditis elegans L Rufener, N Bedoni, R Baur, S Rey, DA Glauser, J Bouvier, R Beech, ... PLoS pathogens 9 (8), e1003524, 2013 | 54 | 2013 |
| 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 | 49 | 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 |
| Conjunctival melanoma targeted therapy: MAPK and PI3K/mTOR pathways inhibition I El Zaoui, M Bucher, D Rimoldi, M Nicolas, G Kaya, RP Gobert, N Bedoni, ... Investigative ophthalmology & visual science 60 (7), 2764-2772, 2019 | 33 | 2019 |
| Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice AR Moye, N Bedoni, JG Cunningham, U Sanzhaeva, ES Tucker, ... PLoS genetics 15 (8), e1008315, 2019 | 24 | 2019 |
| An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs N Bedoni, M Quinodoz, M Pinelli, G Cappuccio, A Torella, V Nigro, ... Human molecular genetics 29 (13), 2250-2260, 2020 | 14 | 2020 |
| Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies A Salmaninejad, N Bedoni, Z Ravesh, M Quinodoz, N Shoeibi, ... Scientific reports 10 (1), 19413, 2020 | 12 | 2020 |
| Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies AU Rehman, N Sepahi, N Bedoni, Z Ravesh, A Salmaninejad, ... Scientific Reports 11 (1), 19332, 2021 | 3 | 2021 |
| The «Amish» NM_000256. 3: c. 3330+ 2T> G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation C Redin, DC Pavlidou, Z Bhuiyan, AP Porretta, P Monney, N Bedoni, ... European Journal of Medical Genetics 65 (12), 104627, 2022 | 1 | 2022 |
| Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophy K Nikopoulos, P Farinelli, B Royer-Bertrand, N Bedoni, U Kjellström, ... Investigative Ophthalmology & Visual Science 57 (12), 2016 | 1 | 2016 |
| Mosaic RASopathies concept: different skin lesions, same systemic manifestations? MA Morren, H Fodstad, H Brems, N Bedoni, E Guenova, ... Journal of Medical Genetics, 2024 | | 2024 |
| 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 |
| Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases Z Ravesh, A Salmaninejad, N Sepahi, AU Rehman, N Bedoni, A Pasdar, ... Investigative Ophthalmology & Visual Science 61 (7), 2384-2384, 2020 | | 2020 |
| Gene discovery in inherited retinal diseases using whole genome sequencing and autozygome based analysis N Bedoni Université de Lausanne, Faculté de biologie et médecine, 2019 | | 2019 |
| Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients. K Cisarova, N Bedoni, R Sanchez-Alcudia, B Royer-Bertrand, ... Investigative Ophthalmology & Visual Science 57 (12), 673-673, 2016 | | 2016 |
| Whole exome screening and identification of novel variants in a cohort of 28 Greek and Swedish families with cone-rod dystrophy. N Bedoni, K Nikopoulos, P Farinelli, B Royer-Bertrand, S Balzano, ... Investigative Ophthalmology & Visual Science 57 (12), 671-671, 2016 | | 2016 |
| Faculty of Biology and Medicine Publication K Nikopoulos, P Farinelli, B Giangreco, C Tsika, B Royer-Bertrand, ... American journal of human genetics, 2016 | | 2016 |
