| Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms C Zeitz, AG Robson, I Audo Progress in retinal and eye research 45, 58-110, 2015 | 326 | 2015 |
| The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein CM Pusch, C Zeitz, O Brandau, K Pesch, H Achatz, S Feil, C Scharfe, ... Nature genetics 26 (3), 324-327, 2000 | 309 | 2000 |
| TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ... The American Journal of Human Genetics 85 (5), 720-729, 2009 | 274 | 2009 |
| NMNAT1 mutations cause Leber congenital amaurosis MJ Falk, Q Zhang, E Nakamaru-Ogiso, C Kannabiran, Z Fonseca-Kelly, ... Nature genetics 44 (9), 1040-1045, 2012 | 216 | 2012 |
| Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases I Audo, KM Bujakowska, T Léveillard, S Mohand-Saïd, ME Lancelot, ... Orphanet journal of rare diseases 7, 1-17, 2012 | 206 | 2012 |
| Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness C Zeitz, B Kloeckener-Gruissem, U Forster, S Kohl, I Magyar, B Wissinger, ... The American Journal of Human Genetics 79 (4), 657-667, 2006 | 205 | 2006 |
| Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy KA Wycisk, C Zeitz, S Feil, M Wittmer, U Forster, J Neidhardt, B Wissinger, ... The American Journal of Human Genetics 79 (5), 973-977, 2006 | 204 | 2006 |
| CRB1 mutations in inherited retinal dystrophies K Bujakowska, I Audo, S Mohand‐Saïd, ME Lancelot, A Antonio, ... Human mutation 33 (2), 306-315, 2012 | 198 | 2012 |
| Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram C Zeitz, M van Genderen, J Neidhardt, UFO Luhmann, F Hoeben, ... Investigative ophthalmology & visual science 46 (11), 4328-4335, 2005 | 184 | 2005 |
| Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome KM Bujakowska, Q Zhang, AM Siemiatkowska, Q Liu, E Place, MJ Falk, ... Human molecular genetics 24 (1), 230-242, 2015 | 166 | 2015 |
| 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 | 147 | 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 | 144 | 2012 |
| EYS is a major gene for rod‐cone dystrophies in France I Audo, JA Sahel, S Mohand‐Saïd, ME Lancelot, A Antonio, ... Human mutation 31 (5), E1406-E1435, 2010 | 107 | 2010 |
| Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation E Boulanger-Scemama, S El Shamieh, V Démontant, C Condroyer, ... Orphanet journal of rare diseases 10, 1-20, 2015 | 94 | 2015 |
| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) D Sharon, T Ben‐Yosef, N Goldenberg‐Cohen, E Pras, L Gradstein, ... Human mutation 41 (1), 140-149, 2020 | 91 | 2020 |
| Special issue introduction: inherited retinal disease: novel candidate genes, genotype–phenotype correlations, and inheritance models FPM Cremers, CJF Boon, K Bujakowska, C Zeitz Genes 9 (4), 215, 2018 | 91 | 2018 |
| Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa I Barragán, S Borrego, JI Pieras, MG Pozo, J Santoyo, C Ayuso, M Baiget, ... Human mutation 31 (11), E1772-E1800, 2010 | 90 | 2010 |
| A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness SA Riazuddin, A Shahzadi, C Zeitz, ZM Ahmed, R Ayyagari, VRM Chavali, ... The American Journal of Human Genetics 87 (4), 523-531, 2010 | 89 | 2010 |
| Mutations in IMPG1 cause vitelliform macular dystrophies G Manes, I Meunier, A Avila-Fernández, S Banfi, G Le Meur, X Zanlonghi, ... The American Journal of Human Genetics 93 (3), 571-578, 2013 | 80 | 2013 |
| Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria B Kloeckener-Gruissem, K Vandekerckhove, G Nürnberg, J Neidhardt, ... The American Journal of Human Genetics 82 (3), 772-779, 2008 | 77 | 2008 |
