Klaus Rüther

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Tim M. Strom, Gerald Nyakatura, Eckart Apfelstedt-Sylla et al. · Nature Genetics · 1998 · 500 citations

L-type Calcium-channel Gene, Channelopathies, Developmental Biology +6

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero et al. · Genetics in Medicine · 2020 · 139 citations · Full text

Functional Genomics, Medicine, Natural Sciences +11

Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

Heidi L. Schulz, Ulrich Kellner, Georg Spital et al. · Investigative Ophthalmology & Visual Science · 2017 · 132 citations · Full text

Multifocal electroretinography in retinitis pigmentosa

Mathias W. Seeliger, Ulf Kretschmann, E Apfelstedt-Sylla et al. · American Journal of Ophthalmology · 1998 · 114 citations

Retinitis Pigmentosa, Vitreous Body, Ophthalmology

Mutant rhodopsin transgene expression on a null background.

Jeanne M. Frederick, Nataliia V. Krasnoperova, Kirstin Hoffmann et al. · PubMed · 2001 · 110 citations