| 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 | 141 | 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 | 137 | 2012 |
| 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 | 59 | 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 | 54 | 2015 |
| 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 | 53 | 2015 |
| 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 | 53 | 2014 |
| 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 | 38 | 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 | 31 | 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 | 24 | 2013 |
| Congenital Stationary Night Blindness C C Zeitz, SG Jacobson, CP Hamel, K Bujakowska, M Neuille, E Orhan, ... Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H …, 2013 | 11 | 2013 |
| 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 | 3 | 2021 |
| 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 | 3 | 2021 |
| 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 | 1 | 2021 |
| 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 |
| 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 |
| EYS809 Non-Viral Gene Therapy to Improve Convenience and Outcomes in Wet AMD E Orhan, K Bigot, P Gondouin, R Benard, M Piazza, R Buggage, ... Investigative Ophthalmology & Visual Science 62 (8), 228-228, 2021 | | 2021 |
| A CCDC51 frameshift variant as a candidate gene defect for autosomal recessive rod-cone dystrophy C Zeitz, C Méjécase, S Mohand-Saïd, L Emmengger, A Schalk, M Neuillé, ... Investigative Ophthalmology & Visual Science 60 (9), 415-415, 2019 | | 2019 |
| Gene Therapy for CSNB associated with GRM6 gene defects MM de Sousa Dias, T Pugliese, M Neuille, E Orhan, C Michiels, ... Investigative Ophthalmology & Visual Science 57 (12), 1182-1182, 2016 | | 2016 |
| LRIT3 is essential to localize TRPM1 to the dendritic tips of ON-bipolar cells and may play a role in cone synapse formation M Neuille, CW Morgans, E Orhan, C Michiels, JA Sahel, IS Audo, ... Investigative Ophthalmology & Visual Science 56 (7), 2612-2612, 2015 | | 2015 |
