B. Wissinger

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Cloning, Chromosomal Localization and Functional Expression of the Gene Encoding the α‐Subunit of the cG‐MP‐Gated Channel in Human Cone Photoreceptors

F. Müller, S. Schuffenhauer, S. Thanos, 1997, The European journal of neuroscience.

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

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

S. Jacobson, B. Lorenz, T. Rosenberg, 2002, American journal of human genetics.

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

S. Bolz, B. Jurklies, J. Heckenlively, 2009, Proceedings of the National Academy of Sciences.

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

E. Zrenner, T. Rosenberg, B. Jurklies, 2011, Human molecular genetics.

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

F. Riemslag, A. D. den Hollander, S. Bolz, 2012, American journal of human genetics.

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

S. Beck, Marina Garcia Garrido, V. Sothilingam, 2015, Nature Genetics.

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

E. Zrenner, B. Wissinger, T. Strasser, 2017, Investigative ophthalmology & visual science.

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

B. Wissinger, S. Kohl, U. Kellner, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

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

P. Sieving, N. Khan, B. Wissinger, 2007, Investigative ophthalmology & visual science.

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

E. Zrenner, B. Jurklies, B. Wissinger, 2001, Human molecular genetics.

A Tale of Two Retinal Domains: Near-Optimal Sampling of Achromatic Contrasts in Natural Scenes through Asymmetric Photoreceptor Distribution

Thomas Euler, T. Schubert, T. Baden, 2013, Neuron.

Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells.

T. Münch, J. Tolivia, B. Wissinger, 2015, Investigative ophthalmology & visual science.

New aspects of an old theme: the genetic basis of human color vision.

L. Sharpe, B. Wissinger, 1998, American journal of human genetics.

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

J. Heckenlively, F. Rüschendorf, C. Becker, 2004, Nature Genetics.

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

A. Munnich, A. D. den Hollander, F. Cremers, 2013, PloS one.

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

E. Zrenner, W. Berger, M. Schubach, 2013, European Journal of Human Genetics.

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

E. Zrenner, W. Berger, D. Schorderet, 2006, American journal of human genetics.

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

B. Wissinger, Simone Schaich, S. Schimpf, 2006, Human Genetics.

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

B. Weber, B. Wissinger, S. Andréasson, 2009, American journal of ophthalmology.

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

E. Zrenner, V. Kitiratschky, R. Wilke, 2008, Investigative ophthalmology & visual science.

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

E. Zrenner, R. Wilke, G. Utermann, 2007, Investigative Ophthalmology and Visual Science.

Clinical features of achromatopsia in Swedish patients with defined genotypes

B. Wissinger, S. Kohl, L. Eksandh, 2002, Ophthalmic genetics.

Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs

J. Kremers, B. Wissinger, H. Scholl, 2001, Current eye research.

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease

P. May, W. Wurst, R. Krüger, 2020, Science Translational Medicine.

Ribosomal protein S14 transcripts are edited in Oenothera mitochondria.

A. Brennicke, B. Wissinger, M. Unseld, 1990, Nucleic acids research.

Distribution of RNA editing sites in Oenothera mitochondrial mRNAs and rRNAs

A. Brennicke, B. Wissinger, W. Schuster, 1991, Current Genetics.

Species-specific RNA editing patterns in the mitochondrial rps13 transcripts of Oenothera and Daucus

A. Brennicke, B. Wissinger, W. Schuster, 1990, Molecular and General Genetics MGG.

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

V. Kitiratschky, B. Wissinger, S. Kohl, 2012, Advances in experimental medicine and biology.

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

E. Zrenner, B. Jurklies, D. Besch, 1997, Biochemical and biophysical research communications.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

B. Wilhelm, E. Zrenner, T. Rosenberg, 2020, JAMA ophthalmology.

GUCY2D- OR GUCA1A-RELATED AUTOSOMAL DOMINANT CONE–ROD DYSTROPHY: Is There a Phenotypic Difference?

E. Zrenner, H. Jägle, B. Wissinger, 2014, Retina.

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

A. Cideciyan, S. Jacobson, E. Zrenner, 2008, European Journal of Human Genetics.

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

B. Lorenz, M. Preising, B. Wissinger, 2007, Ophthalmology.

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

S. Tsang, L. Yannuzzi, B. Wissinger, 2014, JAMA ophthalmology.

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

B. Wissinger, E. Gramer, N. Weisschuh, 2012, Molecular vision.

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

R. Youle, A. Porcelli, A. Ghelli, 2008, Brain : a journal of neurology.

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

P. Heiduschka, P. Chinnery, P. Yu-Wai-Man, 2009, Experimental Neurology.

Erratum: Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause severe childhood-onset retinal dystrophy (Nature Genetics (2004) 36 (850-854))

Peter Nürnberg, Eduard Schmid, Franz Rüschendorf, 2004 .

Mapping of transcription start sites of human retina expressed genes

B. Wissinger, V. Roni, R. Carpio, 2007, BMC Genomics.

Studies on Transcriptional Regulation in the Human Retina : Mapping of Transcriptional Start Sites of Retinal Expressed Genes and Functional Characterization of the CNGA 3 promoter

I. Autenrieth, B. Wissinger, 2010 .

Ocular Phenotype in 3 Young Siblings With a Homozygous KCNV2-Mutation Followed for 14 Years

B. Lorenz, M. Bonin, C. Friedburg, 2007 .

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

H. Wilhelm, D. Kaufmann, B. Wissinger, 2012, Ophthalmic genetics.

Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein.

S. Beck, M. Seeliger, R. Reifen, 1999, The American journal of clinical nutrition.

Oligocone trichromacy: clinical and molecular genetic investigations.

M. Larsen, T. Rosenberg, B. Wissinger, 2010, Investigative ophthalmology & visual science.

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

N. Tanimoto, S. Beck, M. Seeliger, 2010, Advances in experimental medicine and biology.

An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

D. Birch, B. Wissinger, S. Kohl, 2018, Experimental eye research.

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

A. Schatz, K. Bartz-Schmidt, S. Henke-Fahle, 2012, Graefe's Archive for Clinical and Experimental Ophthalmology.

Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice

N. Tanimoto, M. Biel, E. Becirovic, 2010, Cellular and Molecular Life Sciences.

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

M. Bonin, B. Wissinger, N. Weisschuh, 2007, Experimental eye research.

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy

Amna Z. Shah, C. Ponting, E. Zrenner, 2018 .

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma

Robert N Weinreb, Peter Kraft, Terry Gaasterland, 2015, Nature Genetics.

Late onset of Leber’s hereditary optic neuropathy in HIV infection

K. Bartz-Schmidt, B. Wissinger, J. Fricke, 1999, The British journal of ophthalmology.

Activating Mutation of the Renal Epithelial Chloride Channel ClC-Kb Predisposing to Hypertension

T. Risler, B. Bondy, F. Lang, 2004 .

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

T. Risler, B. Bondy, F. Lang, 2006, Hypertension.

Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation

A. Azem, C. Weiss, B. Wissinger, 2020, Frontiers in Genetics.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

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

S. Riazuddin, Z. Ahmed, M. Shahzad, 2014, European Journal of Human Genetics.

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

E. Zrenner, T. Rosenberg, C. Wolf, 2008, Investigative ophthalmology & visual science.

Diagnostic fundus autofluorescence patterns in achromatopsia.

J. Heckenlively, K. Branham, N. Khan, 2013, American journal of ophthalmology.

Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

B. Wissinger, S. Kohl, B. Baumann, 2021, International journal of molecular sciences.

Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial

E. Zrenner, V. Sothilingam, M. Seeliger, 2021, British Journal of Ophthalmology.

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Anna Skorczyk-Werner, A. Wawrocka, Katarzyna Wicher, 2017, European Journal of Human Genetics.

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

E. Zrenner, F. Cremers, K. Stingl, 2021, International journal of molecular sciences.

Identification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide–Gated A3 Channels

B. Wissinger, S. Kohl, J. Täger, 2021, Molecular Pharmacology.

Identification of chemical and pharmacological chaperones for correction of trafficking- deficient mutant CNGA3 channels

B. Wissinger, S. Kohl, J. Täger, 2021 .

Retina Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV 8 in Nonhuman Primates

B. Wilhelm, E. Zrenner, K. Bartz-Schmidt, 2017 .

Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates.

B. Wilhelm, E. Zrenner, K. Bartz-Schmidt, 2017, Investigative ophthalmology & visual science.

Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec

B. Wilhelm, E. Zrenner, K. Bartz-Schmidt, 2021, British Journal of Ophthalmology.

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

T. Strom, B. Wissinger, K. Rohrschneider, 2015, European Journal of Human Genetics.

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

T. Haack, B. Wissinger, N. Weisschuh, 2020, BMC medical genetics.

Year : 2009 Genotyping Microarray for CSNB-Associated Genes

J. Sahel, B. Lorenz, E. Zrenner, 2010 .

Genotyping microarray for CSNB-associated genes.

J. Sahel, B. Lorenz, E. Zrenner, 2009, Investigative ophthalmology & visual science.

RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.

E. Zrenner, B. Wissinger, S. Kohl, 1997, Journal of medical genetics.

The two human organic cation transporter genes SLC22A1 and SLC22A2 are located on chromosome 6q26.

M. Schmid, H. Koepsell, B. Wissinger, 1997, Cytogenetics and cell genetics.

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy

P. Chinnery, P. Yu-Wai-Man, B. Wissinger, 2008, Journal of Medical Genetics.

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

B. Barbiroli, V. Clementi, P. Barboni, 2004 .

A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly

C. Wolf, B. Wissinger, E. Gramer, 2008, Clinical genetics.

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

C. Wolf, B. Wissinger, E. Gramer, 2006, Investigative ophthalmology & visual science.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

Achromatopsia mutations target sequential steps of ATF6 activation

Anna Skorczyk-Werner, M. Krawczyński, R. Kaufman, 2016, Proceedings of the National Academy of Sciences.

Cone and cone–rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation

E. Zrenner, V. Kitiratschky, H. Jägle, 2008, British Journal of Ophthalmology.

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.

L. Schöls, M. Synofzik, B. Wissinger, 2016, Molecular therapy. Nucleic acids.

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

K. Stingl, T. Haack, B. Wissinger, 2021, International journal of molecular sciences.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

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

B. Jurklies, E. De Baere, B. Wissinger, 2014, Molecular genetics & genomic medicine.

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

U. Zimmermann, M. Knipper, S. Bette, 2007, Histochemistry and Cell Biology.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

A. Cideciyan, S. Jacobson, B. Lorenz, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Misdiagnosis of Leber's hereditary optic neuropathy (LHON): role of clinical and molecular genetic examinations

E. Zrenner, B. Wissinger, B. Leo-Kottler, 1998, Der Ophthalmologe.

[Leber's hereditary optic neuropathy].

B. Wissinger, B. Leo-Kottler, 2011, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

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

E. Zrenner, B. Wissinger, G. Auburger, 2010, Molecular Neurodegeneration.

RNA editing in trans-splicing intron sequences of nad2 mRNAs in Oenothera mitochondria.

A. Brennicke, A. Marchfelder, S. Binder, 1992, The Journal of biological chemistry.

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

M. Garshasbi, B. Wissinger, Olivier Hagens, 2006, Experimental eye research.

OPA1 haploinsufficiency induces a BNIP3‐dependent decrease in mitophagy in neurons: relevance to Dominant Optic Atrophy

L. Arnaune-Pelloquin, M. Miquel, B. Wissinger, 2017, Journal of neurochemistry.

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

R. Krüger, B. Delprat, T. Roscioli, 2013, Journal of Medical Genetics.

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

B. Barbiroli, V. Clementi, P. Barboni, 2005, Annals of neurology.

The Role of the Peripherin/RDS Gene in Retinal Dystrophies

E. Zrenner, I. Giddings, D. Besch, 1998, Cells Tissues Organs.

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

W. Berger, C. Pusch, K. Kohler, 2003, Investigative ophthalmology & visual science.

Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16

B. Barbiroli, P. Barboni, R. Lodi, 2007 .

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

C. Wolf, B. Wissinger, E. Gramer, 2005, Molecular vision.

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

S. Bette, B. Wissinger, M. Mittelbronn, 2005, Acta Neuropathologica.

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

L. Schöls, K. Stingl, B. Wissinger, 2022, Molecular therapy. Nucleic acids.

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

B. Wissinger, Simone Schaich, S. Schimpf, 2008, Human mutation.

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

B. Lorenz, M. Bonin, C. Friedburg, 2011, Investigative ophthalmology & visual science.

Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygous p . G 461 R Mutation of KCNV 2

B. Lorenz, M. Bonin, C. Friedburg, 2011 .

'Behr syndrome' with OPA1 compound heterozygote mutations.

E. Bertini, R. Carrozzo, P. Barboni, 2015, Brain : a journal of neurology.

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

H. Kalbacher, S. Bette, K. Kohler, 2004, Investigative ophthalmology & visual science.

Restoration of synaptic function in sight for degenerative retinal disease.

T. Schubert, B. Wissinger, 2015, The Journal of clinical investigation.

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

S. Bhattacharya, M. Votruba, A. Moore, 2000, Nature Genetics.

Blue Cone Monochromacy: Visual Function and Efficacy Outcome Measures for Clinical Trials

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2015, PloS one.

In vivo analysis of cone survival in mice.

N. Tanimoto, S. Beck, M. Seeliger, 2010, Investigative ophthalmology & visual science.

Color Vision in Blue Cone Monochromacy: Outcome Measures for a Clinical Trial

A. V. Cideciyan, A. J. Roman, A. Cideciyan, 2023, Translational vision science & technology.

Central Visual Function and Genotype–Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa

B. Wilhelm, E. Zrenner, K. Stingl, 2022, Investigative ophthalmology & visual science.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

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

J. Lupski, P. Gouras, P. Sieving, 2005, Human molecular genetics.

Imaging Ca2+ Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina

Thomas Euler, T. Schubert, T. Baden, 2015, Journal of visualized experiments : JoVE.

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

S. Jacobson, A. Plomp, A. Janecke, 2010, Human mutation.

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

K. Koeppen, B. Wissinger, S. Kohl, 2008, Human mutation.

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3R427C and A3R563C

K. Koeppen, B. Wissinger, S. Kohl, 2008, The European journal of neuroscience.

A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics

G A Perkins, M H Ellisman, R N Weinreb, 2011, Cell Death and Disease.

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

P. Sieving, N. Tanimoto, S. Beck, 2018, The Journal of clinical investigation.

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

A. V. Cideciyan, T. Aleman, A. Cideciyan, 2004, Human mutation.

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

N. Tanimoto, S. Beck, M. Seeliger, 2015, The Journal of Biological Chemistry.

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

A. V. Cideciyan, A. Cideciyan, S. Schwartz, 2013, Human gene therapy.

Light-Driven Calcium Signals in Mouse Cone Photoreceptors

Thomas Euler, T. Schubert, N. Tanimoto, 2012, The Journal of Neuroscience.

Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia

V. Sothilingam, M. Seeliger, B. Wilhelm, 2020, JAMA ophthalmology.

Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.

S. Beck, Marina Garcia Garrido, V. Sothilingam, 2015, Human molecular genetics.

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

C. Wolf, B. Wissinger, E. Gramer, 2009, American journal of ophthalmology.

Humoral Immune Response After Intravitreal But Not After Subretinal AAV8 in Primates and Patients.

B. Wilhelm, K. Bartz-Schmidt, M. Biel, 2018, Investigative ophthalmology & visual science.

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

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

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

S. Robertson, C. Inglehearn, A. Mighell, 2002, European Journal of Human Genetics.

The coxII gene in carrot mitochondria contains two introns

A. Brennicke, B. Wissinger, B. Lippok, 1992, Molecular and General Genetics MGG.

The NADH-dehydrogenase subunit 5 gene in Oenothera mitochondria contains two introns and is co-transcribed with the 5 S rRNA gene

A. Brennicke, B. Wissinger, W. Schuster, 1988, Molecular and General Genetics MGG.

Trans splicing in oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences

A. Brennicke, B. Wissinger, W. Schuster, 1991, Cell.

Between DNA and protein – RNA editing in plant mitochondria

A. Brennicke, A. Marchfelder, S. Binder, 1991 .

RNA editing of a group II intron in Oenothera as a prerequisite for splicing

A. Brennicke, M. Mörl, B. Wissinger, 1995, Molecular and General Genetics MGG.

Trans splicing integrates an exon of 22 nucleotides into the nad5 mRNA in higher plant mitochondria.

A. Brennicke, B. Wissinger, W. Schuster, 1991, The EMBO journal.

Structures and transcription of the Oenothera mitochondrial genome

A. Brennicke, B. Wissinger, W. Schuster, 1987 .

Short communications The coxlI gene in carrot mitochondria contains two introns

A. Brennicke, B. Wissinger, B. Lippok, 1992 .

RNA editing in the cytochrome b locus of the higher plant Oenothera berteriana includes a U-to-C transition

A. Brennicke, B. Wissinger, W. Schuster, 1990, Molecular and cellular biology.

Regenerating good sense: RNA editing and trans splicing in plant mitochondria.

A. Brennicke, B. Wissinger, W. Schuster, 1992, Trends in genetics : TIG.

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.

Mervyn G. Thomas, B. Lorenz, P. Bauer, 2019, Brain : a journal of neurology.

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

Kang Zhang, Eberhart Zrenner, Yu Zhao, 2005, Human molecular genetics.

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

C. Scharfe, A. Meindl, S. Feil, 2000, Nature Genetics.

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

B. J. Klevering, E. Zrenner, T. de Ravel, 2012, Archives of ophthalmology.

Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.

S. Beck, M. Seeliger, E. Zrenner, 1999, Investigative ophthalmology & visual science.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

S. Jacobson, T. de Ravel, B. Lorenz, 2019, Human mutation.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

A. Green, K. Stingl, J. Heckenlively, 2018, Human mutation.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

Anna Skorczyk-Werner, A. Wawrocka, Katarzyna Wicher, 2018, Molecular vision.

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients

B. Wissinger, C. van Cauwenbergh, S. Kohl, 2017, Human mutation.

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

A. J. Roman, A. Cideciyan, S. Schwartz, 2015, Ophthalmology.

Clinical and genetic features of Hungarian achromatopsia patients.

K. Koeppen, B. Wissinger, S. Kohl, 2005, Molecular vision.

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

E. Zrenner, T. Rosenberg, B. Wissinger, 2004, Investigative ophthalmology & visual science.

[Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].

B. Wissinger, S. Kohl, U. Kellner, 2004, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

Molecular Basis of an Inherited Form of Incomplete Achromatopsia

L. Sharpe, E. Zrenner, U. Kaupp, 2004, The Journal of Neuroscience.

The Molecular Basis of Achromatopsia

L. Sharpe, E. Zrenner, H. Jägle, 2001 .

Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

S. Jacobson, L. Sharpe, E. Zrenner, 1998, Nature Genetics.

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

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

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

T. Léveillard, J. Sahel, S. Jacobson, 2009, American journal of human genetics.

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

A. Chapelle, B. Lorenz, E. Zrenner, 2002, European Journal of Human Genetics.

Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.

E. Zrenner, C. Pusch, B. Wissinger, 2001, Investigative ophthalmology & visual science.

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period

E. Zrenner, K. Stingl, L. Kuehlewein, 2020, Human mutation.

CDHR1 mutations in retinal dystrophies

S. Jacobson, E. Zrenner, K. Stingl, 2017, Scientific Reports.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

S. Jacobson, T. Strom, T. Rosenberg, 2016, PloS one.

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases.

E. Zrenner, B. Wissinger, D. Walker, 1996, The British journal of ophthalmology.

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

T. Schubert, L. Rüttiger, P. Heiduschka, 2015, Cellular and Molecular Life Sciences.

AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye.

B. Wilhelm, K. Bartz-Schmidt, M. Biel, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

P. Sieving, L. Sharpe, E. Zrenner, 2000, Human molecular genetics.

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

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

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.

T. Meitinger, B. Lorenz, A. Meindl, 2003, Investigative ophthalmology & visual science.

Mutations in the CNGB 3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ACHM 3 ) linked to chromosome 8 q 21

P. Sieving, L. Sharpe, E. Zrenner, 2000 .

Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy

J. Heckenlively, K. Branham, N. Khan, 2012, Documenta Ophthalmologica.

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

S. Jacobson, L. Sharpe, E. Zrenner, 1998, Genomics.

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

T. Klopstock, B. Wissinger, C. Catarino, 2021, Molecular therapy. Nucleic acids.

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

T. Neuhann, B. Wissinger, S. Kohl, 2021, PloS one.

Dominant optic atrophy: Culprit mitochondria in the optic nerve

P. Yu-Wai-Man, G. Lenaers, P. Reynier, 2020, Progress in Retinal and Eye Research.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

H. Wilhelm, D. Goudenège, Majida Charif, 2019, The Journal of clinical investigation.

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

M. Synofzik, B. Wissinger, C. Kernstock, 2019, BMC Medical Genetics.

ROS Brains from Aged OPA 1 + / ‒ ( B 6 ; C 3-Opa 1 329-355 del ) Mouse Strain Are in a Pro-Oxidative State

V. Mils, M. Miquel, B. Wissinger, 2018 .

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

L. Schöls, M. Synofzik, B. Wissinger, 2016, Molecular therapy. Nucleic acids.

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

P. Barboni, R. Lodi, R. Youle, 2011, Human molecular genetics.

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

M. Zeviani, B. Barbiroli, D. Manners, 2011, Archives of neurology.

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

M. Zeviani, G. Savini, P. Barboni, 2010, Ophthalmology.

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

P. Heiduschka, U. Schraermeyer, B. Wissinger, 2010, Investigative ophthalmology & visual science.

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

R. Schwarzenbacher, D. Figarella-Branger, C. La Morgia, 2008, Brain : a journal of neurology.

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

S. Beck, M. Knipper, B. Pichler, 2006, Brain : a journal of neurology.

Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye Phenotypes.

C. Hammond, P. Hysi, B. Wissinger, 2020, JAMA ophthalmology.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

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

H. Brunner, E. Zrenner, F. Cremers, 2003, Human Genetics.

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

K Rohrschneider, L I van den Born, M J van Schooneveld, 2001, American journal of human genetics.

Splicing mutations in inherited retinal diseases

B. Wissinger, N. Weisschuh, Elena Buena-Atienza, 2020, Progress in Retinal and Eye Research.

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

E. Zrenner, S. Feil, W. Berger, 2006, American Journal of Human Genetics.

Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma

B. Müller-Myhsok, C. Wolf, B. Wissinger, 2010, Journal of glaucoma.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

M. Zeviani, C. Orssaud, A. Torroni, 2012, PloS one.

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

P. Bauer, L. Schöls, A. Azem, 2020, European Journal of Human Genetics.

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

M. Bonin, B. Wissinger, D. Zobor, 2015, Molecular vision.

Erratum to the report of the third international workshop on human Y chromosome mapping 1997

A. Uitterlinden, E. Mullaart, A. Protopopov, 1997 .

Clinical utility gene card for: Axenfeld–Rieger syndrome

Z. Tümer, E. Baere, B. Wissinger, 2011, European Journal of Human Genetics.

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

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

H. Prokisch, K. Stingl, B. Wissinger, 2021, International journal of molecular sciences.

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

M. Bonin, M. McKibbin, C. Inglehearn, 2015, Molecular vision.

J. Sahel, W. Hauswirth, V. Greenstein, 2021, Human mutation.

Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

S. Jacobson, D. Sharon, K. Stingl, 2019, Human mutation.

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

F. Cremers, B. Wissinger, S. Kohl, 2018, bioRxiv.

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

S. Züchner, R. Schüle, L. Schöls, 2014, Brain : a journal of neurology.

Results A family with severe early-onset ‘ optic atrophy plus ’ syndrome and asymptomatic parents

S. Züchner, R. Schüle, L. Schöls, 2014 .

BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

B. J. Klevering, E. Zrenner, D. Sharon, 2012 .

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

M. Pinelli, M. Mutarelli, B. Wissinger, 2017, Genes.

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

B. Wissinger, B. Baumann, D. Zobor, 2014, Molecular vision.

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

D. Sharon, B. Wissinger, S. Kohl, 2013, Ophthalmology.

Rod and Cone Function in Patients with KCNV2 Retinopathy

E. Zrenner, H. Jägle, B. Wissinger, 2012, PloS one.

A case of X-linked retinoschisis with atypical fundus appearance

E. Zrenner, L. Kuehlewein, B. Wissinger, 2019, Documenta Ophthalmologica.

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

A. Riess, B. Wissinger, N. Weisschuh, 2012, Molecular vision.

MORPHOLOGY AND FUNCTIONAL CHARACTERISTICS IN ADULT VITELLIFORM MACULAR DYSTROPHY

B. Wissinger, S. Kohl, U. Kellner, 2004, Retina.

Direct visual resolution of gene copy number in the human photopigment gene array.

A. Poustka, L. Sharpe, P. Lichter, 1999, Investigative ophthalmology & visual science.

Hybrid Pigment Genes, Dichromacy, and Anomalous Trichromacy

L. Sharpe, S. Deeb, W. Jagla, 2003 .

Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.

A. J. Roman, A. Cideciyan, S. Jacobson, 2018, Investigative ophthalmology & visual science.

Simultaneous detection of multiple point mutations using fluorescence-coupled competitive primer extension.

S. Fauser, B. Wissinger, 1997, BioTechniques.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

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

B. Müller-Myhsok, C. Wolf, B. Wissinger, 2009, BMC Medical Genetics.

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

K. Stingl, S. Raskin, E. Héon, 2022, International journal of molecular sciences.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

I. Chowers, D. Sharon, B. Wissinger, 2022, Molecular vision.

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

Alexander Sumaroka, Artur V. Cideciyan, Rebecca Sheplock, 2020, Frontiers in Neuroscience.

Retina Blue Cone Monochromacy Caused by the C 203 R Missense Mutation or Large Deletion Mutations

A. J. Roman, A. Cideciyan, S. Jacobson, 2018 .

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

M-cone opsin gene number does not correlate with variation in L/M-cone sensitivity

J. Kremers, L. Sharpe, B. Wissinger, 2002, Vision Research.

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

Caroline C W Klaver, Klaus Rohrschneider, Susanne Roosing, 2013, American journal of human genetics.

Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications

Jordi Villà-Freixa, Peter Sandner, Bernd J. Pichler, 2017, BMC Pharmacology and Toxicology.

A pedigree of Leber’s hereditary optic neuropathy with visual loss in childhood, primarily in girls

H. Thieme, B. Wissinger, U. Kellner, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

W. Lagrèze, T. Haack, B. Wissinger, 2022, Journal of Medical Genetics.

Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

E. Zrenner, B. Wissinger, B. Baumann, 1996, German journal of ophthalmology.

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

A. Munnich, G. Brown, M. Zeviani, 2001, Journal of Inherited Metabolic Disease.

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

T. Strom, R. Krüger, A. Kessel, 2020, Scientific Reports.

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

E. Zrenner, V. Kitiratschky, J. Heckenlively, 2009, Human mutation.

Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae.

Martin Biel, Barbara Wilhelm, Tobias Peters, 2017, Investigative ophthalmology & visual science.

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

M. Carbonelli, P. Gohier, P. Yu-Wai-Man, 2021, Brain communications.

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

B. J. Klevering, J. Veltman, A. D. den Hollander, 2012, American journal of human genetics.

Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

E. Zrenner, D. Besch, B. Wissinger, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

[Correlation between clinical and molecular genetic findings in Leber's optic atrophy].

E. Zrenner, B. Wissinger, B. Leo-Kottler, 1995, Der Ophthalmologe.

Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.

E. Zrenner, C. Pusch, B. Wissinger, 2001, Investigative ophthalmology & visual science.

[Diagnostic error in Leber's optic neuropathy. Value of clinical and molecular genetic studies].

E. Zrenner, B. Wissinger, B. Leo-Kottler, 1998, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

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

B. Müller-Myhsok, C. Wolf, B. Wissinger, 2010, BMC Genetics.

cGMP‐dependent cone photoreceptor degeneration in the cpfl1 mouse retina

E. Zrenner, S. Michalakis, B. Wissinger, 2010, The Journal of comparative neurology.

Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions

C. Braun, E. Zrenner, K. Stingl, 2021, International journal of molecular sciences.

Molecular analysis of the mitochondrial genome in Oenothera berteriana

A. Brennicke, B. Wissinger, W. Schuster, 1987 .

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa

E. Zrenner, D. Besch, H. Jägle, 2005, British Journal of Ophthalmology.

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

B. Wissinger, F. Nasser, S. Kohl, 2018, BMC medical genetics.

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

P. Bauer, L. Schöls, A. Azem, 2020, European Journal of Human Genetics.

In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina

Malte T. Ahlers, M. Greschner, B. Wissinger, 2023, Cells.

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

E. Zrenner, D. Sharon, K. Tsunoda, 2020, American journal of ophthalmology.

Manifestations of rod monochromacy

L. Sharpe, B. Wissinger, S. Kohl, 2001 .

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

T. Schubert, L. Rüttiger, P. Heiduschka, 2015, Cellular and Molecular Life Sciences.

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

C. Wolf, B. Wissinger, E. Gramer, 2007, Molecular vision.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

G. Rebillard, B. Delprat, P. Chinnery, 2016, Cell Death Discovery.

Retina Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate

B. Wilhelm, K. Bartz-Schmidt, M. Biel, 2017 .

How do patients rate their subjective symptoms after CNGA3 gene therapy: First application of the instrument A3-PRO

M. Seeliger, B. Wilhelm, E. Zrenner, 2017 .

Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy

Robert W. Taylor, K. Bhatia, F. Alkuraya, 2021, Movement disorders clinical practice.

Genomic Rearrangements in the OPA1 Gene Are Frequent in Patients With Autosomal Dominant Optic Atrophy

B. Wissinger, M. Alavi, N. Fuhrmann, 2008 .

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

E. Zrenner, B. Wissinger, S. Tippmann, 2002, The British journal of ophthalmology.

A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

E. Zrenner, B. Wissinger, S. Tippmann, 2002, The British journal of ophthalmology.

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Aristides B. Arrenberg, E. Zrenner, B. Wissinger, 2021, Human molecular genetics.

Expressed sequences within pericentromeric heterochromatin of human Chromosome 22

C. Pusch, N. Blin, B. Wissinger, 2009, Mammalian Genome.

Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.

J. Ramser, A. Meindl, P. Lichtner, 2001, International journal of molecular medicine.

Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns

E. Zrenner, M. Ueffing, K. Stingl, 2022, Acta ophthalmologica.

Transcripts of the NADH‐dehydrogenase subunit 3 gene are differentially edited in Oenothera mitochondria.

A. Brennicke, B. Wissinger, M. Unseld, 1990, The EMBO journal.

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

F. Cremers, K. Carss, G. Arno, 2019, Genetics in Medicine.

Visual and ocular findings in a family with X-linked cone dysfunction and protanopia

B. Wissinger, S. Kohl, David Epstein, 2021, Ophthalmic genetics.

Retinal structure and function in Achromatopsia: the CNGA3 phenotype

E. Zrenner, B. Wissinger, S. Kohl, 2014 .

Novel KCNV2 Mutations in an Underdiagnosed Phenotype

D. Sharon, B. Wissinger, S. Kohl, 2013 .

Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications

James C. Campbell, Dong I. Lee, M. Zaccolo, 2017, BMC Pharmacology and Toxicology.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

K. Stingl, M. Sturm, S. Ossowski, 2023, Journal of medical genetics.

Genetic background modulates phenotypic expressivity in OPA1 mutated mice, relevance to DOA pathogenesis

B. Wissinger, Macarena S. Arrázola, Petnoi Petsophonsakul, 2023, Frontiers in Molecular Neuroscience.

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

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

cGMP‐dependent cone photoreceptor degeneration in the cpfl1 mouse retina

E. Zrenner, S. Michalakis, B. Wissinger, 2010, The Journal of comparative neurology.

Extra-viral DNA in adeno-associated viral vector preparations induces TLR9-dependent innate immune responses in human plasmacytoid dendritic cells

A. Birkenfeld, B. Wissinger, Simon J. Clark, 2023, Scientific Reports.

Cytochrome oxidase subunit II mRNAs in Oenothera mitochondria are edited at 24 sites

A. Brennicke, B. Wissinger, R. Hiesel, 1990, Current Genetics.

Restoration of synaptic function in sight for degenerative retinal disease.

T. Schubert, B. Wissinger, 2015, The Journal of clinical investigation.

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

B. Wissinger, S. Kohl, U. Kellner, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

Differential RNA editing in closely related introns in Oenothera mitochondria

A. Brennicke, B. Wissinger, B. Lippok, 1994, Molecular and General Genetics MGG.

Lebersche Optikusneuropathie

B. Wissinger, Dr. B. Leo-Kottler, 2011, Der Ophthalmologe.

Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

E. Zrenner, D. Besch, B. Wissinger, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

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

B. Wissinger, B. Fiebig, S. Kohl, 2009, American journal of ophthalmology-glaucoma.