Publikationen
Zobor D, Kaufmann DH, Weckerle P, Sauer A, Wissinger B, Wilhelm H, Kohl S.
Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.
Ophthalmic Genet 2011 Jul 5. [Epub ahead of print]
Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüßen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM.
Common genetic variants associated with open-angle glaucoma.
Mol Genet 2011; 20: 2464-2471
Kitiratschky VB, Glöckner CJ, Kohl S.
Mutation Screening of the GUCA1B Gene in Patients With Autosomal Dominant Cone and Cone Rod Dystrophy.
Ophthalmic Genet 2011 Mar 15. [Epub ahead of print]
Kohl S, Hamel CP.
Clinical utility gene card for: achromatopsia.
Eur J Hum Genet 2011; 19(6): 1
Kohl S, Hamel CP.
Clinical utility gene card for: blue cone monochromatism.
Eur J Hum Genet 2011; 19(6): 1
Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I.
High-Resolution In Vivo Imaging in Achromatopsia.
Ophthalmology 2011; 118: 882-887
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B.
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Hum Mol Genet 2011; 20: 1893-1905
Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Sener EC, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S.
Decreased catalytic activity and altered activation properties of cone phosphodiesterase PDE6C mutations associated with autosomal recessive achromatopsia.
Hum Mol Genet 2011; 20: 719-730
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F.
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Eur J Hum Genet 2011; 19: 445-451
Weisschuh N, De Baere E, Wissinger B, Tümer Z.
Clinical utility gene card for: Axenfeld-Rieger syndrome.
Eur J Hum Genet 2011; 19(3): 1
Lodi R, Tonon C, Valentino M, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger W, Zeviani M, Baruzzi A, Liguori R, Barbiroli B, Carelli V.
Defective mitochondrial ATP production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Arch Neurol 2011; 68: 67-73
Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere E, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander A.
IQCB1 mutations in patients with Leber congenital amaurosis.
Invest Ophthalmol Vis Sci 2011; 52: 834-839
Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A.
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
Eur J Hum Genet 2011; 19: 186-193
Köhn L, Kohl S, Bowne SJ, Sullivan LS, Kellner U, Daiger SP, Sandgren O, Golovleva I.
PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
Ophthalmic Genet 2010; 31: 139-140
Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D.
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.
Hum Genet 2010; 128: 261-267
Trifunovic D, Dengler K, Michalakis S, Zrenner E, Wissinger B, Paquet-Durand F.
cGMP-dependent cone photoreceptor degeneration in the cpfl1 mouse retina.
J Comp Neurol 2010; 518: 3604-3617
Fuhrmann N, Schimpf S, Kamenisch Y, Leo-Kottler B, Alexander C, Auburger G, Zrenner E, Wissinger B, Alavi MV.
Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.
Mol Neurodegener 2010; 5: 25-37
Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke A, Wissinger B.
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.
Hum Mutat 2010; 31: 830-839
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A.
Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma.
J Glaucoma 2010; 19: 561-565
Schaeferhoff K, Michalakis S, Tanimoto N, Fischer MD, Becirovic E, Beck SC, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Seeliger MW, Bonin M.
Induction of STAT3 related genes in fast degenerating cone photoreceptors of cpfl1 mice.
Cell Mol Life Sci 67: 3173-3186
Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G, Gramer E.
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation.
Case Report Med 2010: 621984
Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri AD, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B, Carelli V.
OPA1 mutations associated with Dominant Optic Atrophy influence optic nerve head size.
Ophthalmology 2010; 117: 1547-1553
Fischer MD, Tanimoto N, Beck SC, Huber G, Schaeferhoff K, Michalakis S, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW.
Structural and Functional Phenotyping in the Cone-Specific Photoreceptor Function Loss 1 (cpfl1) Mouse Mutant - A Model of Cone Dystrophies.
Adv Exp Med Biol 2010; 664: 593-599
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Wissinger B, Weisschuh N.
Mitochondrial haplogroup U is associated with reduced risk to develop exfoliation glaucoma in the German population.
BMC Genet 2010; 11: 8-13
Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi M.
Electrophysiological and histological assessment of retinal ganglion cell fate in a mouse model for OPA1 associated autosomal dominant optic atrophy.
Invest Ophthalmol Vis Sci 2010; 51: 1424-1431
Andersen MKG, Christofferse N, Sander B, Larsen M, Kohl S, Grau T, Wissinger B, Rosenberg T.
Oligocone trichromacy: clinical and molecular genetic investigations.
Invest Ophthalmol Vis Sci 2010; 51: 89-95
Beck SC, Schaeferhoff K, Michalakis S, Fischer MD, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Bonin M, Seeliger MW, Tanimoto N.
In vivo analysis of cone survival in mice.
Invest Ophthalmol Vis Sci 2010; 51: 493-497
Poloschek CM, Kohl S.
Achromatopsia.
Ophthalmologe 2010; 107: 571-580
Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot E, Lorenz B, Preising M, Kellner U, Renner A, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.
TRPM1 is mutated in patients with complete autosomal recessive CSNB.
Am J Hum Genet 2009; 85: 720-729
Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively JR, Wissinger B.
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
Proc Natl Acad Sci USA 2009; 106: 19581-19586
Alavi MV, Fuhrmann N, Nguyen HP, Yu-Wai-Man P, Heiduschka P, Chinnery PF, Wissinger B.
Subtle neurologic and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.
Exp Neurol 2009; 220: 404-409
Zeitz C, Labs S, Lorenz B, Forster U, Üksti J, Kroes HY, De Baere E, Leroy BP, Cremers FPM, Wittmer M, van Genderen MM, Sahel J-A, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer J, Hüffmeier U, Veselina Moskova, Levin A, Hamel C, Leifert D, Munier F, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
Genotyping microarray for CSNB-associated genes.
Invest Ophthalmol Vis Sci 2009; 50: 5919-5926
Weisschuh N, Wolf C, Wissinger B, Gramer E.
A clinical and molecular genetic study of German patients with primary congenital glaucoma.
Am J Ophthalmol 2009; 147: 744-753
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B, Weisschuh N.
Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma.
J Glaucoma 2009; 19:136-141
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Reinthal E, Wissinger B, Weisschuh N.
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study.
BMC Med Genet 2009; 10: 91-98
Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B.
Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
J Med Genet 2009; 46: 136-144
Alavi MV, Fuhrmann N, Nguyen HP, Yu-Wai-Man P, Heiduschka P, Chinnery PF, Wissinger B.
Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy.
Exp Neurol 2009; 220: 404-409
Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A.
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
Am J Hum Genet 2009; 85: 447-456
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A.
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Invest Ophthalmol Vis Sci 2009; 50: 2796-2801
Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jägle H, Kohl S, Wissinger B, Koch KW.
Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.
Hum Mutat 2009; 30: E782-796
Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ.
GPR98 mutations cause Usher syndrome type 2 in males.
J Med Genet 2009; 46: 277-280
Kohl S.
Genetic causes of hereditary cone and cone-rod dystrophies
Ophthalmologe 2009; 106: 109-115
Renner AB, Fiebig BS, Weber BH, Wissinger B, Andreasson S, Gal A, Cropp E, Kohl S, Kellner U.
Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
Am J Ophthalmol 2009; 147: 518-530
Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.
Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
Br J Ophthalmol 2008; 92: 1086-1091
Ahuja Y, Kohl S, Traboulsi EI.
CNGA3 mutations in two United Arab Emirates families with achromatopsia.
Mol Vis 2008; 14: 1293-1297
Leo-Kottler B, Jägle H, Küpker T, Schimpf S.
How to distinguish between autosomal dominant optic atrophy and Leber's hereditary optic neuropathy.
Ophthalmologe 2007; 104: 1060-1065
Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B;. Achromatopsia Clinical Study Group.
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Hum Mutat 2008; 29:1228-1236
Weisschuh N, Wolf C, Wissinger B, Gramer E.
A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.
Clin Genet 2008; 74: 476-480
Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadala M, Birch DG, Wissinger B, Zrenner E, Kohl S.
Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
Invest Ophthalmol Vis Sci 2008; 49: 5015-5023
Koeppen K, Reuter P, Kohl S, Baumann B, Ladewig T, Wissinger B.
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
Eur J Neurosci 2008; 27: 2391-2401
Meyer-Marcotty P, Weisschuh N, Dressler P, Hartmann J, Stellzig-Eisenhauer A.
Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation.
J Oral Pathol Med 2008; 37: 504-510
Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Eur J Hum Genet 2008; 16: 812-819
Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T.
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Invest Ophthalmol Vis Sci 2008; 49: 751-757
Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V.
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
Brain 2008; 131: 352-367
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V.
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Brain 2008; 131: 338-351
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
Am J Hum Genet 2007; 81: 1098-1103
Bette S, Zimmermann U, Wissinger B, Knipper M.
OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear.
Histochem Cell Biol 2007; 128: 421-430
Schimpf S, Fuhrmann N, Schaich S, Wissinger B.
Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.
Hum Mutat 2008; 29: 106-112
Khan NW, Wissinger B, Kohl S, Sieving PA.
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
Invest Ophthalmol Vis Sci 2007; 48: 3864-3871
Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A.
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Invest Ophthalmol Vis Sci 2007; 48: 1824-1831
Paunescu K, Preising MN, Janke B, Wissinger B, Lorenz B.
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
Ophthalmology 2007; 114: 1348-1357
Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
Brain 2007; 130: 1029-1042
Roni V, Carpio R, Wissinger B.
Mapping of transcription start sites of human retina expressed genes.
BMC Genomics 2007; 8: 42-55
Weisschuh N, Alavi MV, Bonin M, Wissinger B.
Identification of genes that are linked with optineurin expression using a combined RNAi-Microarray approach.
Exp Eye Res 2007; 85: 450-461
Weisschuh N, Wolf C, Wissinger B, Gramer E.
Variations in the WDR36 gene in German patients with normal tension glaucoma.
Mol Vis 2007; 13: 724-729
Weisschuh N, Dressler P, Schuettauf F, Wolf C, Wissinger B, Gramer E.
Novel Mutations of FOXC1 and PITX2 in Patients with Axenfeld-Rieger Malformations.
Invest Ophthalmol Vis Sci 2006; 47: 3846-3852
Dadgar S, Hagens O, Dadgar SR, Haghighi EN, Schimpf S, Wissinger B, Garshasbi M.
Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy.
Exp Eye Res 2006; 83: 702-706
Schimpf S, Schaich S, Wissinger B.
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
Hum Genet 2006; 118: 767-771
Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A.
Clinical and genetic features of Hungarian achromatopsia patients.
Mol Vis 2005; 11: 996-1001
Schuster A, Weisschuh N, Jagle H, Besch D, Janecke AR, Zierler H, Tippmann S, Zrenner E, Wissinger B.
Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
Br J Ophthalmol 2005; 89: 1258-1264
Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E.
Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.
Mol Vis 2005; 11: 284-287
Bette S, Schlaszus H, Wissinger B, Meyermann R, Mittelbronn M.
OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain.
Acta Neuropathol (Berl) 2005; 109: 393-399
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Eur J Hum Genet 2005; 13: 302-308
Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH.
Morphology and functional characteristics in adult vitelliform macular dystrophy.
Retina 2004; 24: 929-939
Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauve Y, Li X, Zrenner E, Wissinger B, Hollander AI, Katz B, Baehr W, Cremers FP, Casey JR, Bhattacharya SS, Zhang K.
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
Hum Mol Genet 2005; 14: 255-265
Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B.
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
Invest Ophthalmol Vis Sci 2004; 45: 4256-4262
Lodi R, Tonon C, Valentino ML, Iotti S, Clementi V, Malucelli E, Barboni P, Longanesi L, Schimpf S, Wissinger B, Baruzzi A, Barbiroli B, Carelli V.
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
Ann Neurol 2004; 56: 719-723
Pesch UE, Fries JE, Bette S, Kalbacher H, Wissinger B, Alexander C, Kohler K.
OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina.
Invest Ophthalmol Vis Sci 2004; 45: 4217-4225
Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A.
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Hum Mutat 2004; 24: 439
Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH.
Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes
Ophthalmologe 2004; 101: 830-835
Janecke AR, Thompson DA, Utermann G, Becker C, Hubner CA, Schmid E, McHenry CL, Nair AR, Ruschendorf F, Heckenlively J, Wissinger B, Nurnberg P, Gal A.
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Nat Genet 2004; 36: 850-854
Kellner U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster MH.
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.
Graefes Arch Clin Exp Ophthalmol 2004; 242: 729-735
Trankner D, Jagle H, Kohl S, Apfelstedt-Sylla E, Sharpe LT, Kaupp UB, Zrenner E, Seifert R, Wissinger B.
Molecular basis of an inherited form of incomplete achromatopsia.
J Neurosci 2004; 24: 138-147
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP.
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Hum Genet 2003; 113: 268-275
Pesch K, Zeitz C, Fries JE, Munscher S, Pusch CM, Kohler K, Berger W, Wissinger B.
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.
Invest Ophthalmol Vis Sci 2003; 44: 2260-2266
Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.
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.
Invest Ophthalmol Vis Sci 2003; 44: 1458-1463
Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF.
Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
Eur J Hum Genet 2002; 10: 865-869
Eksandh L, Kohl S, Wissinger B.
Clinical features of achromatopsia in Swedish patients with defined genotypes.
Ophthalmic Genet 2002; 23: 109-120
Knau H, Kremers J, Schmidt HJ, Wolf S, Wissinger B, Sharpe LT.
M-cone opsin gene number does not correlate with variation in L/M-cone sensitivity.
Vision Res 2002; 42: 1888-1896
Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM.
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Eur J Hum Genet 2002; 10: 449-456
Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B.
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
Am J Hum Genet 2002; 71: 422-425
Dietrich K, Jacobi FK, Tippmann S, Schmid R, Zrenner E, Wissinger B, Apfelstedt-Sylla E.
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
Br J Ophthalmol. 2002; 86: 328-332
Scholl HP, Langrova H, Pusch CM, Wissinger B, Zrenner E, Apfelstedt-Sylla E.
Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene.
Invest Ophthalmol Vis Sci 2001; 42: 2728-2736
Wissinger B, Gamer D, Jagle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S.
CNGA3 mutations in hereditary cone photoreceptor disorders.
Am J Hum Genet 2001; 69: 722-737
Scholl HP, Kremers J, Wissinger B.
Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs.
Curr Eye Res 2001; 22: 221-228
Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B.
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Hum Mol Genet 2001; 10: 1359-1368
Jacobi FK, Meyer J, Pusch CM, Wissinger B.
Quantitation of heteroplasmy in mitochondrial DNA mutations by primer extension using Vent(R)(exo-) DNA polymerase and RFLP analysis.
Mutat Res 2001; 478: 141-151
Pesch K, Tomiuk J, Broghammer M, Zrenner E, Apfelstedt-Sylla E, Jacobi FK, Wissinger B, Pusch CM.
Case populations must match the respective disease model: Genotype diversity causes linkage disequilibrium mapping failure in monogenic disorders.
Int J Mol Med 2001; 8: 53-58
den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP.
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
Am J Hum Genet 2001; 69: 198-203
Jacobi FK, Leo-Kottler B, Mittelviefhaus K, Zrenner E, Meyer J, Pusch CM, Wissinger B.
Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.
Invest Ophthalmol Vis Sci 2001; 42: 1208-1214
Pusch CM, Maurer J, Ramser J, Tomiuk J, Achatz H, Pesch K, Lichtner P, Apfelstedt-Sylla E, Jacobi FK, Berger W, Meindl A, Wissinger B.
Complete form of X-linked congenital stationary night blindness: refined mapping and evidence of genetic homogeneity.
Int J Mol Med 2001; 7: 155-161
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi FK, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A.
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
Nat Genet 2000; 26: 324-327
Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B.
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Nat Genet 2000; 26: 211-215
Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT, Wissinger B.
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.
Hum Mol Genet 2000; 9: 2107-2116
Besch D, Wissinger B, Zrenner E, Leo-Kotter B.
A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene.
Ophthalmologe 2000; 97: 22-26
Besch D, Leo-Kottler B, Zrenner E, Wissinger B.
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
Graefes Arch Clin Exp Ophthalmol 1999; 237: 745-752
Thieme H, Wissinger B, Jandeck C, Christ-Adler M, Kraus H, Kellner U, Foerster MH.
A pedigree of Leber's hereditary optic neuropathy with visual loss in childhood, primarily in girls.
Graefes Arch Clin Exp Ophthalmol 1999; 237: 714-719
Wolf S, Sharpe LT, Schmidt HJ, Knau H, Weitz S, Kioschis P, Poustka A, Zrenner E, Lichter P, Wissinger B.
Direct visual resolution of gene copy number in the human photopigment gene array.
Invest Ophthalmol Vis Sci 1999; 40: 1585-1589
Biesalski HK, Frank J, Beck SC, Heinrich F, Illek B, Reifen R, Gollnick H, Seeliger MW, Wissinger B, Zrenner E.
Biochemical but not clinical vitamin A deficiency results from mutations in the gene for retinol binding protein.
Am J Clin Nutr 1999; 69: 931-936
Wolf S, Sharpe LT, Knau H, Wissinger B.
Numbers and ratios of X-chromosomal-linked opsin genes.
Vision Res 1998; 38: 3227-3231
Seeliger MW, Biesalski HK, Wissinger B, Gollnick H, Gielen S, Frank J, Beck S, Zrenner E.
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.
Invest Ophthalmol Vis Sci 1999; 40: 3-11
Kohl S, Giddings I, Besch D, Apfelstedt-Sylla E, Zrenner E, Wissinger B.
The role of the peripherin/RDS gene in retinal dystrophies.
Acta Anat (Basel) 1998; 162: 75-84
Wissinger B, Sharpe LT.
New aspects of an old theme: the genetic basis of human color vision.
Am J Hum Genet 1998; 63: 1257-1262
Leo-Kottler B, Christ-Adler M, Wissinger B, Zrenner E.
Diagnostic error in Leber's optic neuropathy. Value of clinical and molecular genetic studies
Ophthalmologe 1998; 95: 549-554
Wissinger B, Jagle H, Kohl S, Broghammer M, Baumann B, Hanna DB, Hedels C, Apfelstedt-Sylla E, Randazzo G, Jacobson SG, Zrenner E, Sharpe LT.
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
Genomics 1998; 51: 325-331
Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
Nat Genet 1998; 19: 257-259
Wissinger B, Muller F, Weyand I, Schuffenhauer S, Thanos S, Kaupp UB, Zrenner E.
Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.
Eur J Neurosci 1997; 9: 2512-2521
Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B.
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
J Med Genet 1997; 34: 620-626
Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.
Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.
Biochem Biophys Res Commun 1997; 234: 511-515
Fauser S, Wissinger B.
Simultaneous detection of multiple point mutations using fluorescence-coupled competitive primer extension.
Biotechniques 1997; 22: 964-968
Weber BH, Sander S, Kopp C, Walker D, Eckstein A, Wissinger B, Zrenner E, Grimm T.
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.
Br J Ophthalmol 1996; 80:7 45-49
Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B.
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.
Ger J Ophthalmol 1996; 5: 233-240
Leo-Kottler B, Christ-Adler M, Reck B, Wissinger B, Zrenner E.
Correlation between clinical and molecular genetic findings in Leber's optic atrophy
Ophthalmologe 1995; 92: 86-92
