| OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 C Alexander, M Votruba, UEA Pesch, DL Thiselton, S Mayer, A Moore, ... Nature genetics 26 (2), 211-215, 2000 | 1561 | 2000 |
| OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes P Amati-Bonneau, ML Valentino, P Reynier, ME Gallardo, B Bornstein, ... Brain 131 (2), 338-351, 2008 | 562 | 2008 |
| RNA editing in plant mitochondria R Hiesel, B Wissinger, W Schuster, A Brennicke Science 246 (4937), 1632-1634, 1989 | 493 | 1989 |
| 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 |
| OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion C Zanna, A Ghelli, AM Porcelli, M Karbowski, RJ Youle, S Schimpf, ... Brain 131 (2), 352-367, 2008 | 409 | 2008 |
| 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 | 406 | 2001 |
| 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 |
| 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 |
| A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy MV Alavi, S Bette, S Schimpf, F Schuettauf, U Schraermeyer, HF Wehrl, ... Brain 130 (4), 1029-1042, 2007 | 296 | 2007 |
| 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 | 288 | 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 | 274 | 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 RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy AR Janecke, DA Thompson, G Utermann, C Becker, CA Hübner, ... Nature genetics 36 (8), 850-854, 2004 | 265 | 2004 |
| Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma JNC Bailey, SJ Loomis, JH Kang, RR Allingham, P Gharahkhani, CC Khor, ... Nature genetics 48 (2), 189-194, 2016 | 257 | 2016 |
| A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics D Nguyen, MV Alavi, KY Kim, T Kang, RT Scott, YH Noh, JD Lindsey, ... Cell death & disease 2 (12), e240-e240, 2011 | 240 | 2011 |
| Trans splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences B Wissinger, W Schuster, A Brennicke Cell 65 (3), 473-482, 1991 | 224 | 1991 |
| OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance UEA Pesch, B Leo-Kottler, S Mayer, B Jurklies, U Kellner, ... Human Molecular Genetics 10 (13), 1359-1368, 2001 | 222 | 2001 |
| 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 |
