| Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel S Kohl, T Marx, I Giddings, H Jägle, SG Jacobson, E Apfelstedt-Sylla, ... Nature genetics 19 (3), 257-259, 1998 | 415 | 1998 |
| Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to … S Kohl, B Baumann, M Broghammer, H Jägle, P Sieving, U Kellner, ... Human molecular genetics 9 (14), 2107-2116, 2000 | 358 | 2000 |
| CNGA3 mutations in hereditary cone photoreceptor disorders B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ... The American Journal of Human Genetics 69 (4), 722-737, 2001 | 355 | 2001 |
| Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia S Kohl, B Baumann, T Rosenberg, U Kellner, B Lorenz, M Vadala, ... The American Journal of Human Genetics 71 (2), 422-425, 2002 | 289 | 2002 |
| Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies N Glöckle, S Kohl, J Mohr, T Scheurenbrand, A Sprecher, N Weisschuh, ... European journal of human genetics 22 (1), 99-104, 2014 | 287 | 2014 |
| 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 | 273 | 2009 |
| CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, ... European Journal of Human Genetics 13 (3), 302-308, 2005 | 266 | 2005 |
| Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ... Nature genetics 47 (7), 757-765, 2015 | 216 | 2015 |
| 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 |
| A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene B Chang, T Grau, S Dangel, R Hurd, B Jurklies, EC Sener, S Andreasson, ... Proceedings of the National Academy of Sciences 106 (46), 19581-19586, 2009 | 204 | 2009 |
| 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 |
| A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, ... The American Journal of Human Genetics 91 (3), 527-532, 2012 | 168 | 2012 |
| 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 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic … M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ... Genetics in Medicine 21 (8), 1761-1771, 2019 | 142 | 2019 |
| 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 | 139 | 2011 |
| Safety and vision outcomes of subretinal gene therapy targeting cone photoreceptors in achromatopsia: a nonrandomized controlled trial MD Fischer, S Michalakis, B Wilhelm, D Zobor, R Muehlfriedel, S Kohl, ... JAMA ophthalmology 138 (6), 643-651, 2020 | 135 | 2020 |
| High-resolution in vivo imaging in achromatopsia MG Thomas, A Kumar, S Kohl, FA Proudlock, I Gottlob Ophthalmology 118 (5), 882-887, 2011 | 127 | 2011 |
| BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome A Estrada-Cuzcano, RK Koenekoop, A Senechal, EBW De Baere, ... Archives of ophthalmology 130 (11), 1425-1432, 2012 | 123 | 2012 |
| Morphology and functional characteristics in adult vitelliform macular dystrophy AB Renner, H Tillack, H Kraus, S Kohl, B Wissinger, N Mohr, BHF Weber, ... Retina 24 (6), 929-939, 2004 | 111 | 2004 |
