Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis AI den Hollander, RK Koenekoop, S Yzer, I Lopez, ML Arends, ... The American Journal of Human Genetics 79 (3), 556-561, 2006 | 807 | 2006 |
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR FPM Cremers, DJR van de Pol, M van Driel, AI den Hollander, ... Human molecular genetics 7 (3), 355-362, 1998 | 646 | 1998 |
Multilayer amniotic membrane transplantation for reconstruction of deep corneal ulcers FE Kruse, K Rohrschneider, HE Völcker Ophthalmology 106 (8), 1504-1511, 1999 | 480 | 1999 |
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene AI den Hollander, JR Heckenlively, LI van den Born, YJM de Kok, ... The American Journal of Human Genetics 69 (1), 198-203, 2001 | 416 | 2001 |
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy A Maugeri, BJ Klevering, K Rohrschneider, A Blankenagel, HG Brunner, ... The American Journal of Human Genetics 67 (4), 960-966, 2000 | 391 | 2000 |
Reproducibility of the optic nerve head topography with a new laser tomographic scanning device K Rohrschneider, ROW Burk, FE Kruse, HE Völcker Ophthalmology 101 (6), 1044-1049, 1994 | 328 | 1994 |
The 2588G→ C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with … A Maugeri, MA van Driel, DJR van de Pol, BJ Klevering, FJJ van Haren, ... The American Journal of Human Genetics 64 (4), 1024-1035, 1999 | 315 | 1999 |
Cryopreserved human amniotic membrane for ocular surface reconstruction FE Kruse, AM Joussen, K Rohrschneider, L You, B Sinn, J Baumann, ... Graefe's archive for clinical and experimental ophthalmology 238, 68-75, 2000 | 304 | 2000 |
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular … F Krämer, K White, D Pauleikhoff, A Gehrig, L Passmore, A Rivera, ... European Journal of Human Genetics 8 (4), 286-292, 2000 | 273 | 2000 |
Use of fundus perimetry (microperimetry) to quantify macular sensitivity K Rohrschneider, S Bültmann, C Springer Progress in retinal and eye research 27 (5), 536-548, 2008 | 262 | 2008 |
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness LM Astuto, JM Bork, MD Weston, JW Askew, RR Fields, DJ Orten, ... The American Journal of Human Genetics 71 (2), 262-275, 2002 | 254 | 2002 |
Thalidomide inhibits corneal angiogenesis induced by vascular endothelial growth factor FE Kruse, AM Joussen, K Rohrschneider, MD Becker, HE Völcker Graefe's archive for clinical and experimental ophthalmology 236, 461-466, 1998 | 208 | 1998 |
Fundus autofluorescence and fundus perimetry in the junctional zone of geographic atrophy in patients with age-related macular degeneration S Schmitz-Valckenberg, S Bültmann, J Dreyhaupt, A Bindewald, ... Investigative ophthalmology & visual science 45 (12), 4470-4476, 2004 | 200 | 2004 |
Microperimetry—comparison between the micro perimeter 1 and scanning laser ophthalmoscope—fundus perimetry K Rohrschneider, C Springer, S Bültmann, HE Vö American journal of ophthalmology 139 (1), 125-134, 2005 | 193 | 2005 |
Autologous translocation of the choroid and retinal pigment epithelium in age-related macular degeneration AM Joussen, FMA Heussen, S Joeres, H Llacer, B Prinz, K Rohrschneider, ... American journal of ophthalmology 142 (1), 17-30. e8, 2006 | 182 | 2006 |
Determination of the location of the fovea on the fundus K Rohrschneider Investigative ophthalmology & visual science 45 (9), 3257-3258, 2004 | 176 | 2004 |
Fundus perimetry with the Micro Perimeter 1 in normal individuals: comparison with conventional threshold perimetry C Springer, S Bültmann, HE Völcker, K Rohrschneider Ophthalmology 112 (5), 848-854, 2005 | 166 | 2005 |
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype KW Littink, JWR Pott, RWJ Collin, HY Kroes, JBGM Verheij, EAW Blokland, ... Investigative ophthalmology & visual science 51 (7), 3646-3652, 2010 | 157 | 2010 |
IQCB1 mutations in patients with leber congenital amaurosis A Estrada-Cuzcano, RK Koenekoop, F Coppieters, S Kohl, I Lopez, ... Investigative ophthalmology & visual science 52 (2), 834-839, 2011 | 140 | 2011 |
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa BJ Klevering, S Yzer, K Rohrschneider, M Zonneveld, R Allikmets, L Born, ... European journal of human genetics 12 (12), 1024-1032, 2004 | 140 | 2004 |