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TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals
Photoreceptor ribbon synapses release glutamate in response to graded changes in membrane potential evoked by vast, logarithmically scalable light intensities. Neurotransmitter release is modulatedExpand
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Meta-analysis of genome scans of age-related macular degeneration.
A genetic contribution to the development of age-related macular degeneration (AMD) is well established. Several genome-wide linkage studies have identified a number of putative susceptibility lociExpand
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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
Purpose Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrumExpand
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The Retinome – Defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium
BackgroundThe mammalian retina is a valuable model system to study neuronal biology in health and disease. To obtain insight into intrinsic processes of the retina, great efforts are directed towardsExpand
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Characterization of three novel isoforms of the metabotrobic glutamate receptor 7 (GRM7)
The G protein-coupled metabotropic glutamate receptors (GRMs) consist of a family of eight members. Structural and functional diversity of this receptor family is achieved by the existence ofExpand
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A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)
Abstract Age-related macular degeneration (AMD) is the leading cause of blindness among white caucasians over the age of 50 years with a prevalence rate expected to increase markedly with anExpand
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EST mining of the UniGene dataset to identify retina-specific genes
Age-related macular degeneration (AMD) is a multifactorial disorder affecting the visual system with a high prevalence among the elderly population but with no effective therapy available at present.Expand
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Mutations in the Genes for Interphotoreceptor Matrix Proteoglycans, IMPG1 and IMPG2, in Patients with Vitelliform Macular Lesions
A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutationalExpand
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16th European Colloqium on Animal Cytogenetics and Gene Mapping
s O1–O4 Page 12 Animal molecular cytogenetics
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Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies
Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, areExpand
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