Bernd Wissinger

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Clinical features of achromatopsia in Swedish patients with defined genotypes.

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

Molecular basis of an inherited form of incomplete achromatopsia.

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina.

Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

Morphology and functional characteristics in adult vitelliform macular dystrophy.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain.

Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Clinical and genetic features of Hungarian achromatopsia patients.

Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.

Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

Development of a genotyping microarray for Usher syndrome.

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.

Mapping of transcription start sites of human retina expressed genes.

A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Variations in the WDR36 gene in German patients with normal tension glaucoma.

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach.

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.

OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.

OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

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

Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.

A clinical and molecular genetic study of German patients with primary congenital glaucoma.

Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma.

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.

Genotyping microarray for CSNB-associated genes.

In vivo analysis of cone survival in mice.

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.

Oligocone trichromacy: clinical and molecular genetic investigations.

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.

Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy.

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population.

Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies.

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina.

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.

Clinical utility gene card for: Axenfeld-Rieger syndrome.

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.

GDF-15: a novel serum marker for metastases in uveal melanoma patients.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Genes and mutations in autosomal dominant cone and cone-rod dystrophy.

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.

Light-driven calcium signals in mouse cone photoreceptors.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

Rod and cone function in patients with KCNV2 retinopathy.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Diagnostic fundus autofluorescence patterns in achromatopsia.

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy.

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

A tale of two retinal domains: near-optimal sampling of achromatic contrasts in natural scenes through asymmetric photoreceptor distribution.

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family.

GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.

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

'Behr syndrome' with OPA1 compound heterozygote mutations.

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Targeted Ablation of the Pde6h Gene in Mice Reveals Cross-species Differences in Cone and Rod Phototransduction Protein Isoform Inventory.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials.