Bernd Wissinger

Molecular Genetics Laboratory, University of Tübingen

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 24	2015

Other Publications

Article	Year
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. American journal of human genetics\| PubMed ID: 12077706	2002
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. European journal of human genetics : EJHG\| PubMed ID: 12111638	2002
Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic genetics\| PubMed ID: 12187429	2002
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate. European journal of human genetics : EJHG\| PubMed ID: 12461695	2002
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. Investigative ophthalmology & visual science\| PubMed ID: 12657579	2003
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina. Investigative ophthalmology & visual science\| PubMed ID: 12714669	2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human genetics\| PubMed ID: 12827496	2003
Molecular basis of an inherited form of incomplete achromatopsia. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 14715947	2004
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie\| PubMed ID: 15069569	2004
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension\| PubMed ID: 15148291	2004
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nature genetics\| PubMed ID: 15258582	2004
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Human mutation\| PubMed ID: 15459973	2004
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina. Investigative ophthalmology & visual science\| PubMed ID: 15505078	2004
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Annals of neurology\| PubMed ID: 15505825	2004
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Investigative ophthalmology & visual science\| PubMed ID: 15557429	2004
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Human molecular genetics\| PubMed ID: 15563508	2005
Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina (Philadelphia, Pa.)\| PubMed ID: 15579992	2004
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European journal of human genetics : EJHG\| PubMed ID: 15657609	2005
OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain. Acta neuropathologica\| PubMed ID: 15700187	2005
Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Molecular vision\| PubMed ID: 15851979	2005
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Human molecular genetics\| PubMed ID: 16269441	2005
Clinical and genetic features of Hungarian achromatopsia patients. Molecular vision\| PubMed ID: 16319819	2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene. Human genetics\| PubMed ID: 16323009	2006
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Experimental eye research\| PubMed ID: 16698014	2006
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations. Investigative ophthalmology & visual science\| PubMed ID: 16936096	2006
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. American journal of human genetics\| PubMed ID: 16960802	2006
Development of a genotyping microarray for Usher syndrome. Journal of medical genetics\| PubMed ID: 16963483	2007
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American journal of human genetics\| PubMed ID: 17033974	2006
Mapping of transcription start sites of human retina expressed genes. BMC genomics\| PubMed ID: 17286855	2007
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain : a journal of neurology\| PubMed ID: 17314202	2007
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. Investigative ophthalmology & visual science\| PubMed ID: 17389517	2007
Variations in the WDR36 gene in German patients with normal tension glaucoma. Molecular vision\| PubMed ID: 17563723	2007
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Investigative ophthalmology & visual science\| PubMed ID: 17652762	2007
Identification of genes that are linked with optineurin expression using a combined RNAi--microarray approach. Experimental eye research\| PubMed ID: 17663987	2007
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons. Human mutation\| PubMed ID: 17722006	2008
OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. Histochemistry and cell biology\| PubMed ID: 17828551	2007
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. American journal of human genetics\| PubMed ID: 17924349	2007
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain : a journal of neurology\| PubMed ID: 18158317	2008
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain : a journal of neurology\| PubMed ID: 18222991	2008
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Investigative ophthalmology & visual science\| PubMed ID: 18235024	2008
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. European journal of human genetics : EJHG\| PubMed ID: 18285826	2008
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). The European journal of neuroscience\| PubMed ID: 18445228	2008
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Investigative ophthalmology & visual science\| PubMed ID: 18487367	2008
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Human mutation\| PubMed ID: 18521937	2008
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. American journal of ophthalmology\| PubMed ID: 19038374	2009
A clinical and molecular genetic study of German patients with primary congenital glaucoma. American journal of ophthalmology\| PubMed ID: 19195637	2009
Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. Journal of glaucoma\| PubMed ID: 19373106	2010
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Human mutation\| PubMed ID: 19459154	2009
Genotyping microarray for CSNB-associated genes. Investigative ophthalmology & visual science\| PubMed ID: 19578023	2009
In vivo analysis of cone survival in mice. Investigative ophthalmology & visual science\| PubMed ID: 19737879	2010
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. BMC medical genetics\| PubMed ID: 19754948	2009
Oligocone trichromacy: clinical and molecular genetic investigations. Investigative ophthalmology & visual science\| PubMed ID: 19797231	2010
Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy. Experimental neurology\| PubMed ID: 19815013	2009
Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy. Investigative ophthalmology & visual science\| PubMed ID: 19834041	2010
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 19887631	2009
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. American journal of human genetics\| PubMed ID: 19896113	2009
Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population. BMC genetics\| PubMed ID: 20109175	2010
Structural and functional phenotyping in the cone-specific photoreceptor function loss 1 (cpfl1) mouse mutant - a model of cone dystrophies. Advances in experimental medicine and biology\| PubMed ID: 20238063	2010
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology\| PubMed ID: 20417568	2010
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Human mutation\| PubMed ID: 20506298	2010
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy. Molecular neurodegeneration\| PubMed ID: 20546606	2010
cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina. The Journal of comparative neurology\| PubMed ID: 20593360	2010
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Archives of neurology\| PubMed ID: 20837821	2011
Clinical utility gene card for: Axenfeld-Rieger syndrome. European journal of human genetics : EJHG\| PubMed ID: 20940740	2011
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Human molecular genetics\| PubMed ID: 21127010	2011
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16. Human molecular genetics\| PubMed ID: 21349918	2011
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. Ophthalmic genetics\| PubMed ID: 21728811	2012
GDF-15: a novel serum marker for metastases in uveal melanoma patients. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie\| PubMed ID: 21881845	2012
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Human mutation\| PubMed ID: 21882291	2011
Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Investigative ophthalmology & visual science\| PubMed ID: 21911584	2011
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. American journal of human genetics\| PubMed ID: 22177090	2012
Genes and mutations in autosomal dominant cone and cone-rod dystrophy. Advances in experimental medicine and biology\| PubMed ID: 22183351	2012
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Molecular vision\| PubMed ID: 22312185	2012
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. American journal of human genetics\| PubMed ID: 22325361	2012
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Molecular vision\| PubMed ID: 22509105	2012
Light-driven calcium signals in mouse cone photoreceptors. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 22593066	2012
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PloS one\| PubMed ID: 22879922	2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. American journal of human genetics\| PubMed ID: 22901948	2012
Rod and cone function in patients with KCNV2 retinopathy. PloS one\| PubMed ID: 23077521	2012
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Archives of ophthalmology\| PubMed ID: 23143442	2012
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PloS one\| PubMed ID: 23308101	2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic epidemiology\| PubMed ID: 23350551	2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. European journal of human genetics : EJHG\| PubMed ID: 23591405	2014
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology\| PubMed ID: 23725738	2013
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. American journal of human genetics\| PubMed ID: 23746546	2013
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Human mutation\| PubMed ID: 23946133	2013
Diagnostic fundus autofluorescence patterns in achromatopsia. American journal of ophthalmology\| PubMed ID: 23972307	2013
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Human gene therapy\| PubMed ID: 24067079	2013
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. Journal of medical genetics\| PubMed ID: 24136862	2013
A tale of two retinal domains: near-optimal sampling of achromatic contrasts in natural scenes through asymmetric photoreceptor distribution. Neuron\| PubMed ID: 24314730	2013
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. JAMA ophthalmology\| PubMed ID: 24504161	2014
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. Molecular vision\| PubMed ID: 24520187	2014
GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? Retina (Philadelphia, Pa.)\| PubMed ID: 24875811	2014
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain : a journal of neurology\| PubMed ID: 24970096	2014
Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. European journal of human genetics : EJHG\| PubMed ID: 25052312	2015
'Behr syndrome' with OPA1 compound heterozygote mutations. Brain : a journal of neurology\| PubMed ID: 25146916	2015
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. Ophthalmology\| PubMed ID: 25616768	2015
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Molecular genetics & genomic medicine\| PubMed ID: 25629076	2015
Targeted Ablation of the Pde6h Gene in Mice Reveals Cross-species Differences in Cone and Rod Phototransduction Protein Isoform Inventory. The Journal of biological chemistry\| PubMed ID: 25739440	2015
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Molecular vision\| PubMed ID: 25802487	2015
Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. Molecular vision\| PubMed ID: 25814828	2015
Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. PloS one\| PubMed ID: 25909963	2015