| Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ... The American Journal of Human Genetics 92 (1), 67-75, 2013 | 152 | 2013 |
| Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness I Audo, K Bujakowska, E Orhan, CM Poloschek, S Defoort-Dhellemmes, ... The American Journal of Human Genetics 90 (2), 321-330, 2012 | 148 | 2012 |
| Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy S El Shamieh, M Neuillé, A Terray, E Orhan, C Condroyer, V Démontant, ... The American Journal of Human Genetics 94 (4), 625-633, 2014 | 63 | 2014 |
| Genotypic and phenotypic characterization of P23H line 1 rat model E Orhan, D Dalkara, M Neuillé, C Lechauve, C Michiels, S Picaud, ... PLoS One 10 (5), e0127319, 2015 | 62 | 2015 |
| Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB) M Neuillé, S El Shamieh, E Orhan, C Michiels, A Antonio, ME Lancelot, ... PloS one 9 (3), e90342, 2014 | 62 | 2014 |
| LRIT 3 is essential to localize TRPM 1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation M Neuillé, CW Morgans, Y Cao, E Orhan, C Michiels, JA Sahel, I Audo, ... European Journal of Neuroscience 42 (3), 1966-1975, 2015 | 60 | 2015 |
| RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation I Audo, S Mohand‐Saïd, CM Dhaenens, A Germain, E Orhan, A Antonio, ... Human mutation 33 (1), 73-80, 2012 | 47 | 2012 |
| The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel … I Audo, K Bujakowska, E Orhan, S El Shamieh, F Sennlaub, ... Human molecular genetics 23 (2), 491-501, 2014 | 38 | 2014 |
| Further insights into GPR179: Expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness E Orhan, L Prézeau, S El Shamieh, KM Bujakowska, C Michiels, Y Zagar, ... Investigative Ophthalmology & Visual Science 54 (13), 8041-8050, 2013 | 29 | 2013 |
| WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy M Solaguren‐Beascoa, KM Bujakowska, C Méjécase, L Emmenegger, ... Clinical genetics 99 (2), 298-302, 2021 | 8 | 2021 |
| A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency E Orhan, M Neuillé, M de Sousa Dias, T Pugliese, C Michiels, ... International Journal of Molecular Sciences 22 (9), 4424, 2021 | 7 | 2021 |
| Congenital Stationary Night Blindness Consortium Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuillé, E Orhan, ... Am. J. Hum. Genet 92, 67-75, 2013 | 6 | 2013 |
| Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy C Zeitz, C Méjécase, C Michiels, C Condroyer, J Wohlschlegel, ... International Journal of Molecular Sciences 22 (15), 7875, 2021 | 5 | 2021 |
| Überblick über die kongenitale stationäre Nachtblindheit mit überwiegend normalem Fundus C Zeitz, C Friedburg, MN Preising, B Lorenz Klinische Monatsblätter für Augenheilkunde 235 (03), 281-289, 2018 | 2 | 2018 |
| Whole exome sequencing identifies mutations in LRIT3 as a cause for autosomal recessive complete congenital stationary night blindness C Zeitz, S Jacobson, C Hamel, K Bujakowska, M Neuillé, E Orhan, ... Investigative Ophthalmology & Visual Science 54 (15), 3350-3350, 2013 | 1 | 2013 |
| DNA STRUCTURE FOR TREATING OCULAR PATHOLOGIES T Bordet, E Orhan, K Bigot, R Buggage US Patent App. 18/003,585, 2024 | | 2024 |
| Efficacy and durability of EYS809 non-viral gene therapy in nAMD preclinical models K Bigot, P Gondouin, R Bénard, M Piazza, E Orhan, FF Behar-Cohen, ... Investigative Ophthalmology & Visual Science 64 (8), 1300-1300, 2023 | | 2023 |
| In vitro RPE cell models for iron toxicity studies E Picard, JY Tembou, T Jaworski, C Lebon, A Francon, E Orhan, K Bigot, ... Investigative Ophthalmology & Visual Science 64 (8), 2602-2602, 2023 | | 2023 |
| Transferrin confers neuroprotection in ex vivo and in vivo glaucoma rat models K Bigot, J Youale, B Kodati, T Jaworski, Y Fan, NY Nsiah, ... Investigative Ophthalmology & Visual Science 63 (7), 1604–A0427-1604–A0427, 2022 | | 2022 |
| Transferrin protects RPE cells from oxidative damages J Youale, T Jaworski, C Lebon, A Françon, E Orhan, K Bigot, T Bordet, ... Investigative Ophthalmology & Visual Science 63 (7), 295–F0098-295–F0098, 2022 | | 2022 |
