Publications

Last update, Oktober 2009

Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV.
Retinal ganglion cells are primarily affected in an animal model of OPA1 associated autosomal dominant optic atrophy.
Invest Ophthalmol Vis Sci. 2009 Oct 15.

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 Oct 6.

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 Oct;85(4):447-56. Epub 2009 Sep 17.

Andersen M, Christoffersen N, Sander B, Edmund C, Larsen M, Grau T, Wissinger B, Kohl S, Rosenberg T.
Oligocone trichromacy: Clinical and molecular genetic investigations.
Invest Ophthalmol Vis Sci. 2009 Sep 24.

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 Sep 15;10:91.

Beck SC, Schaeferhoff K, Michalakis S, Fischer MD, Huber G, Rieger N, Riess O, Wissinger B, Biel M, Bonin M, Seeliger M, Tanimoto N.
In vivo analysis of cone survival in mice.
Invest Ophthalmol Vis Sci. 2009 Sep 8.

Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Saïd S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W.
Genotyping microarray for CSNB-associated genes.
Invest Ophthalmol Vis Sci. 2009 Jul 2.

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 Jun;50(6):2796-801. Epub 2009 Jan 31.

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 Aug;30(8):E782-96.

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 Apr 15.

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 Apr;46(4):277-80.

Kohl S.
Genetic causes of hereditary cone and cone-rod dystrophies
Ophthalmologe. 2009 Feb;106(2):109-15. Review. German.

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 Mar;147(3):518-530.e1. Epub 2008 Nov 26.

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 Aug;92(8):1086-91.

Ahuja Y, Kohl S, Traboulsi EI.
CNGA3 mutations in two United Arab Emirates families with achromatopsia.
Mol Vis. 2008 Jul 10;14:1293-7.

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 Dec;104(12):1060-5. German

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 Jun 2. [Epub ahead of print]

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 May 21. [Epub ahead of print]

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 May 16. [Epub ahead of print]

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 May;27(9):2391-401.

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 Mar 10. [Epub ahead of print]

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 Jul;16(7):812-9. Epub 2008 Feb 20.

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 Feb;49(2):751-7.

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 Feb;131(Pt 2):352-67.

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 Feb;131(Pt 2):338-51. Epub 2007 Dec 24.

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 Nov;81(5):1098-103. Epub 2007 Sep 26.

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 Nov;128(5):421-30. Epub 2007 Sep 8.

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 Jan;29(1):106-12.

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 Aug;48(8):3864-71.

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 Apr;48(4):1824-31.

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 Jul;114(7):1348-1357.e1. Epub 2007 Feb 22. Review.

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 Apr;130(Pt 4):1029-42. Epub 2007 Feb 21.

Valeria Roni, Ronald Carpio and Bernd Wissinger
Mapping of transcription start sites of human retina expressed genes.
BMC Genomics 2007, 8:42

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. Epub 2007 ahead of print

Weisschuh N, Wolf C, Wissinger B, Gramer E
Variations in the WDR36 gene in German patients with normal tension glaucoma.
Mol Vis 13: 724-729 (2007)

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 Sep 83(3):702-6. Epub 2006 May 12.

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 Feb 118(6):767-71. Epub 2005 Dec 2.

Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A.
Clinical and genetic features of Hungarian achromatopsia patients.
Mol Vis. 2005 Nov 17 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 Oct 89(10):1258-64.

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 Apr 18;11:284-7.

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 Apr 109(4):393-9. Epub 2005 Feb 8.

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 Mar;13(3):302-8.

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 Dec;24(6):929-39.

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 Jan 15;14(2):255-65. Epub 2004 Nov 24.

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 Dec;45(12):4256-62.

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 Nov;56(5):719-23.

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 Nov;45(11):4217-25.

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 Nov;24(5):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 Aug;101(8):830-5. German.

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 Aug;36(8):850-4. Epub 2004 Jul 18. Erratum in: Nat Genet. 2004 Sep;36(9):1024.

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 Sep;242(9):729-35.

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 Jan 7;24(1):138-47.

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 Aug;113(3):268-75. Epub 2003 Jun 25.

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 May;44(5):2260-6.

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 Apr;44(4):1458-63.

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 Dec;10(12):865-9.

Eksandh L, Kohl S, Wissinger B.
Clinical features of achromatopsia in Swedish patients with defined genotypes.
Ophthalmic Genet. 2002 Jun;23(2):109-20.

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 Jul;42(15):1888-96.

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 Aug;10(8):449-56.

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 Aug;71(2):422-5. Epub 2002 Jun 20.

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 Mar;86(3):328-32.

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 Oct;42(11):2728-36.

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 Oct;69(4):722-37. Epub 2001 Aug 30.

Scholl HP, Kremers J, Wissinger B.
Macular dystrophy with protan genotype and phenotype studied with cone type specific ERGs.
Curr Eye Res. 2001 Mar;22(3):221-8.

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 Jun 15;10(13):1359-68.

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 Jul 1;478(1-2):141-51.

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 Jul;8(1):53-8.

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 Jul;69(1):198-203. Epub 2001 May 24. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.

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 May;42(6):1208-14.

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 Feb;7(2):155-61.

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 Nov;26(3):324-7.

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 Oct;26(2):211-5.

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 Sep 1;9(14):2107-16.

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 Jan;97(1):22-6. German.

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 Sep;237(9):745-52.

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 Sep;237(9):714-9.

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 Jun;40(7):1585-9.

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 May;69(5):931-6. Erratum in: Am J Clin Nutr 2000 Apr;71(4):1010.

Wolf S, Sharpe LT, Knau H, Wissinger B.
Numbers and ratios of X-chromosomal-linked opsin genes.
Vision Res. 1998 Nov;38(21):3227-31.

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 Jan;40(1):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(2-3):75-84. Review.

Wissinger B, Sharpe LT.
New aspects of an old theme: the genetic basis of human color vision.
Am J Hum Genet. 1998 Nov;63(5):1257-62. Review. No abstract available.

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 Aug;95(8):549-54. German.

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 Aug 1;51(3):325-31.

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 Jul;19(3):257-9.

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 Dec;9(12):2512-21.

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 Aug;34(8):620-6.

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 May 19;234(2):511-5.

Fauser S, Wissinger B.
Simultaneous detection of multiple point mutations using fluorescence-coupled competitive primer extension.
Biotechniques. 1997 May;22(5):964-8.

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 Aug;80(8):745-9.

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 Jul;5(4):233-40.

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 Feb;92(1):86-92. German.