Peggy Reuter

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia

Peggy Reuter, Katja Koeppen, Thomas Ladewig et al. · Human Mutation · 2008 · 66 citations

Medicine, Genetics, Molecular Genetics +15

<i>CNGB3</i> mutation spectrum including copy number variations in 552 achromatopsia patients

Anja K. Mayer, Caroline Van Cauwenbergh, Christine Rother et al. · Human Mutation · 2017 · 66 citations

Medicine, Genetics, Molecular Genetics +17

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

Markus Burkard, Susanne Kohl, Timm Krätzig et al. · Journal of Clinical Investigation · 2018 · 42 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3_R427C and A3_R563C

Katja Koeppen, Peggy Reuter, Susanne Kohl et al. · European Journal of Neuroscience · 2008 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy

Rehan Sadiq Shaikh, Peggy Reuter, Robert A. Sisk et al. · European Journal of Human Genetics · 2014 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13