Opsin genes, cone photopigments, color vision, and color blindness LT Sharpe, A Stockman, H Jägle, J Nathans Color vision: From genes to perception 351, 3-52, 1999 | 538 | 1999 |
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 | 422 | 1998 |
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 | 368 | 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 | 364 | 2000 |
A luminous efficiency function, V*(λ), for daylight adaptation LT Sharpe, A Stockman, W Jagla, H Jägle Journal of vision 5 (11), 3-3, 2005 | 326 | 2005 |
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 | 283 | 2005 |
Reorganization of human cortical maps caused by inherited photoreceptor abnormalities HA Baseler, AA Brewer, LT Sharpe, AB Morland, H Jägle, BA Wandell Nature neuroscience 5 (4), 364-370, 2002 | 213 | 2002 |
Red, green, and red-green hybrid pigments in the human retina: correlations between deduced protein sequences and psychophysically measured spectral sensitivities LT Sharpe, A Stockman, H Jägle, H Knau, G Klausen, A Reitner, ... Journal of Neuroscience 18 (23), 10053-10069, 1998 | 161 | 1998 |
Mutation spectrum of the ABCA4 gene in 335 Stargardt disease patients from a multicenter German cohort—impact of selected deep intronic variants and common SNPs HL Schulz, F Grassmann, U Kellner, G Spital, K Rüther, H Jägle, ... Investigative ophthalmology & visual science 58 (1), 394-403, 2017 | 136 | 2017 |
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 124 | 2020 |
Achromatopsia S Kohl, H Jägle, B Wissinger, D Zobor | 89 | 2018 |
Progressive retinal degeneration and glial activation in the CLN6 nclf mouse model of neuronal ceroid Lipofuscinosis: a beneficial effect of DHA and curcumin supplementation M Mirza, C Volz, M Karlstetter, M Langiu, A Somogyi, MO Ruonala, ... PloS one 8 (10), e75963, 2013 | 85 | 2013 |
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium‐mediated regulation of guanylate cyclase VBD Kitiratschky, P Behnen, U Kellner, JR Heckenlively, E Zrenner, ... Human mutation 30 (8), E782-E796, 2009 | 85 | 2009 |
Macular pigment densities derived from central and peripheral spectral sensitivity differences LT Sharpe, A Stockman, H Knau, H Jägle Vision Research 38 (21), 3233-3239, 1998 | 85 | 1998 |
Visual short-term effects of Viagra: double-blind study in healthy young subjects H Jägle, C Jägle, L Sérey, A Yu, A Rilk, B Sadowski, D Besch, E Zrenner, ... American journal of ophthalmology 137 (5), 842-849, 2004 | 83 | 2004 |
Molecular basis of an inherited form of incomplete achromatopsia D Tränkner, H Jägle, S Kohl, E Apfelstedt-Sylla, LT Sharpe, UB Kaupp, ... Journal of Neuroscience 24 (1), 138-147, 2004 | 79 | 2004 |
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11 B Wissinger, H Jägle, S Kohl, M Broghammer, B Baumann, DB Hanna, ... Genomics 51 (3), 325-331, 1998 | 77 | 1998 |
Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage BM Braunger, A Ohlmann, M Koch, N Tanimoto, C Volz, Y Yang, MR Bösl, ... Neurobiology of disease 50, 1-12, 2013 | 76 | 2013 |
TGF-β signaling protects retinal neurons from programmed cell death during the development of the mammalian eye BM Braunger, S Pielmeier, C Demmer, V Landstorfer, D Kawall, ... Journal of Neuroscience 33 (35), 14246-14258, 2013 | 74 | 2013 |
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies VBD Kitiratschky, T Grau, A Bernd, E Zrenner, H Jägle, AB Renner, ... European journal of human genetics 16 (7), 812-819, 2008 | 71 | 2008 |