| 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 |
| 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 |
| The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene VG Peter, M Quinodoz, J Pinto-Basto, SB Sousa, SA Di Gioia, G Soares, ... Genetics in medicine 21 (12), 2734-2743, 2019 | 38 | 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 |
| 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 |
| New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV VG Peter, M Quinodoz, S Sadio, S Held, M Rodrigues, M Soares, ... Human Mutation 42 (3), 261-271, 2021 | 22 | 2021 |
| Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 A Ur Rehman, VG Peter, M Quinodoz, A Rashid, SA Khan, ... Genes 11 (1), 12, 2019 | 13 | 2019 |
| A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa VG Peter, K Nikopoulos, M Quinodoz, L Granse, P Farinelli, ... Ophthalmic genetics 40 (2), 177-181, 2019 | 12 | 2019 |
| 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 | 10 | 2023 |
| Investigating the ocular surface microbiome: what can it tell us? VG Peter, SC Morandi, EL Herzog, MS Zinkernagel, DC Zysset-Burri Clinical Ophthalmology, 259-271, 2023 | 9 | 2023 |
| Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD R Sangermano, I Deitch, VG Peter, R Ba-Abbad, EM Place, ... NPJ genomic medicine 6 (1), 53, 2021 | 9 | 2021 |
| Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene I Atallah, M Quinodoz, B Campos‐Xavier, VG Peter, A Fouriki, C Bonvin, ... Clinical Genetics 99 (6), 780-788, 2021 | 5 | 2021 |
| 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 |
| Genetic bases of retinoblastoma from liquid biopsies F Cancellieri, VG Peter, M Quinodoz, C Stathopoulos, FL Munier, ... Investigative Ophthalmology & Visual Science 63 (7), 503–A0080-503–A0080, 2022 | 2 | 2022 |
| Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants S Lebon, M Quinodoz, VG Peter, C Gengler, G Blanchard, V Cina, ... Genes 12 (9), 1397, 2021 | 2 | 2021 |
| Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa AU Rehman, VG Peter, M Quinodoz, M Dawood, C Rivolta Clinical dysmorphology 29 (2), 86-89, 2020 | 2 | 2020 |
| Genetic profile of syndromic retinitis pigmentosa in Portugal T Cortinhal, C Santos, S Vaz-Pereira, A Marta, L Duarte, V Miranda, ... Graefe's Archive for Clinical and Experimental Ophthalmology, 1-15, 2024 | 1 | 2024 |
| New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. VG Peter, M Quinodoz, S Sadio, S Held, M Rodrigues, M Soares, ... Human Mutation, 2022 | 1 | 2022 |
| Anisometropia and asymmetric ABCA4-related cone-rod dystrophy C Santos, A Almeida, R Pinto, K Kaminska, VG Peter, AB Sousa, C Rivolta, ... Ophthalmic genetics 43 (4), 576-580, 2022 | 1 | 2022 |
| A novel phenotype associated with the R162W variant in the KCNJ13 gene M Schroeder, VG Peter, L Gränse, S Andréasson, C Rivolta, U Kjellström Ophthalmic genetics 43 (4), 500-507, 2022 | 1 | 2022 |
