Wissinger Lab

Molecular Genetics Laboratory

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2021

  1. Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Carmen A, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M (2021) KCNV2-associated retinopathy: Genetics, Electrophysiology and Clinical Course-KCNV2 Studfy Group Report 1. American Journal of Ophthalmology 225: 95-107.
  2. Weisschuh N, Buena-Atienza E, Wissinger B (2021) Splicing Mutations in Inherited Retinal Diseases. Progress in Retinal and Eye Research 80:100874.
  3. Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N (2021) X-linked retinitis pigmentosa caused by non-canonical splice site variants in RPGR. International Journal of Molecular Sciences 22: 850.
  4. Rosenberg T, Olsen JV, Weisschuh N, Kohl S, Wissinger B (2021) Old mystery solved: Achromatopsia, the Fuur genealogy in retrospective. Annals of Case Reports 6: 628.
    Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan Mi, Mazzola P, Schäferhoff K, Heinrich T, Haack T, Wissinger B, Zrenner E, Weisschuh N, Kohl S (2021) Clinical Phenotype of PDE6B-Related Retinitis Pigmentosa. International Journal of Molecular Sciences 22(5): 2374
  5. Nassisi M, Smirnov V, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein V, Michalakis S, Mahroo O, Ba-Abbad R, Michaelides M, Webster AR, Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones S, Zeitz C, Audo I (2021) CNGB1-related rod-cone dystrophy: a mutation review and update. Human Mutation 42: 641-666.
  6. Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, La Morgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P, European ION Group, Lenaers G (2021) Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Brain Communications 3(2): fcab063
  7. Weisschuh N, Mazzola P, Bertrand M, Haack T, Wissinger B, Kohl S, Stingl K (2021) Clinical characteristics of autosomal-recessive retinal degeneration due to mutations in POC1B and assignment of pathogenicity to a novel deep intronic and non-canonical splice site variant. International Journal of Molecular Sciences  22(10): 5396
  8. Lenaers G, Neutzner A, LeDantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Agca C, Kieninger S, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B (2021) Dominant Optic Atrophy: culprit mitochondria in the optic nerve. Progress in Retinal and Eye Research 83: 100935.
  9. Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AHJ, de Carvalho ER, Nguyen XTA, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M (2021) KCNV2-associated retinopathy: Detailed Retinal Phenotype and Structural Endpoints – KCNV2 Study Group Report 2. American Journal of Ophthalmology 230: 1-11
  10. Täger J, Wissinger B, Kohl S, Reuter P (2021) Identification of chemical and pharmacological chaperones for correction of trafficking-deficient mutant cone CNGA3 channels. Molecular Pharmacology 99(6): 460-468.
  11. Holmquist D, Epstein D, Olsson M, Wissinger B, Kohl S, Hengstler J, Fahnehjelm KT (2021) Visual and ocular findings in a family with X-linked cone dysfuction and protanopia. Ophthalmic Genetics 42(5): 570-576
  12. Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B (2021) Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: identification and classification of 48 novel variants. PLoSOne 16(7): e0253987. doi: 10.1371/journal.pone.0253987.
  13. Kohl S, Baumann B, Dassie F, Mayer AK, Solaki M, Reuter P, Kühlewein L, Wissinger B, Maffei P (2021) Paternal uniparental isodisomy of chromosome 2 in a patient with CNGA3-associated autosomal recessive achromatopsia. International Journal of Molecular Sciences 22(15):7842.
  14. Kohl S, Llavona Juez P, Sauer A, Reuter P, Weisschuh N, Kempf M, Dehmelt FA, Arrenberg AB, Sliesoraityte I, Zrenner E, van Schooneveld MJ, Rudolph G, Kühlewein L, Wissinger B (2021) A duplication on chromosome 16q12 affecting the IRXB cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect. Human Molecular Genetics 42(6): 1218-1229.
  15. Rodríguez-Bocanegra E, Wozar F, Seitz IP, Reichel FFL, Ochakovski A, Bucher K, Wilhelm B, Bartz-Schmidt KU, Peters T, Fischer MD; RD-CURE Consortium*. Longitudinal Evaluation of Hyper-Reflective Foci in the Retina Following Subretinal Delivery of Adeno-Associated Virus in Non-Human Primates. Translational Vision Science & Technology 10(6):15. doi: 10.1167/tvst.10.6.15. *Member of the RD-CURE Consortium, u.a.: Bernd Wissinger, Susanne Kohl, Nicole Weisschuh
  16. Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreno E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Perez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ, The ESRETNET Study Group, The ERDC Study Group*, The Associated Clinical Study Group, Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C (2021) Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports 11(1): 1526. *Member of The ERDC Study Group: Susanne Kohl
  17. Kellner U, Weisschuh N, Weinitz S, Farmand G, Deutsch S, Kortüm F, Mazzola P, Schäferhoff K, Marino V, Dell'Orco D (2021) Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant. International Journal of Molecular Sciences 22(4):2089.
  18. Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphanet Journal of Rare Disease 16(1): 142.
  19. Souzeau E, Weisschuh N, Craig JE, Pasutto F, Koch KW (2021) An Assessment of GUCA1C Variants in Primary Congenital Glaucoma. Genes (Basel). 2021 Mar 2;12(3):359.
  20. Spitschan M, Garbazza C, Kohl S, Cajochen C (2021) Sleep and circadian phenotype in people without cone-mediated vision: a case series of five CNGB3 and two CNGA3 patients. Brain Communications 3(3): fcab159.
  21. Aweidah H, Salameh M, Yahalom C, Blumenfeld A, Macarov M, Weisschuh N, Kohl S, Banin E, Sharon D (2021) A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients. Molecular Vision 27: 588-600.
  22. Lowndes R, Molz B, Warriner L, Herbik A , de Best PB, Raz N, Gouws A, Ahmadi K, McLean RJ, Gottlob I, Kohl S, Choritz L, Maguire J, Kanowski M, Käsmann-Kellner B, Wieland I, Banin E, Levin N, Hoffmann MB, Morland A, Baseler HA (2021) Structural differences acreoss multiple visual cortical regions in the absence of cone function in congenital achromatopsia. Frontiers in Neuroscience 15: 718958.
  23. Weisschuh N, Marino V, Schäferhoff K, Richter P, Park J, Haack TB, Dell'Orco D (2021) Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms. Human Molecular Genetics Sep 24:ddab286..
  24. Stingl K, Kempf M, Bartz-Schmidt KU, Dimopoulos S, Reichel F, Jung R, Kohl S, Kortüm F, Nasser F, Peters T, Wilhelm B, Wissinger B, Wozar F, Zrenner E, Fischer MD, Stingl K (2021) Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec. British Journal of Ophthalmology Jan 20: bjophthalmol-2020-318286.
  25. Reichel FF, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Sothilingam V, Kuehlewein L, Kahle N, Seitz I, Paquet-Durand F, Tsang SH, Martus P, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B, Fischer D (2021) Three years results of phase I retinal gene therapy trial for CNGA3-mutated Achromatopsia: results of a nonrandomized controlled trial. British Journal of Ophthalmology May 18:bjophthalmol-2021-319067.
  26. Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M, Rad A, Doll J, Hofrichter MAH, Koparir A, Röder T, Han S, Sabbaghi H, Ahmadieh H, Behboudi H, Villanueva-Mendoza C, Cortés-Gonzalez V, Zamora-Ortiz R, Kohl S, Kuehlewein L, Darvish H, Alehabib E, Arenas-Sordo ML, Suri F, Vona B, Haaf T (2021) Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Human Genetics Jun 20.
  27. Kortüm FC, Kempf M, Jung R, Kohl S, Ott S, Kortuem C, Sting K, Stingl K. Short term morphological rescue of the fovea after gene therapy with voretigene neparvovec. Acta Ophthalmologica 2021 Jul 21.
  28. Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E. Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. Acta Ophthalmologica 2021 Jul 29.

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2020

  1. Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Boucquet B, Branham K, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S (2020) Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation. Human Mutation 41(1):255-264.
  2. Piro-Mégy C, Sarzi E, Tarrés-Solé A, Péquignot M, Hensen F, Quilès M, Manes G, Chakraborty A, Sénéchal A, Bocquet B, Cazevieille C, Roubertie A, Müller A, Charif M, Goudenège D, Lenaers G, Wilhelm H, Kellner U, Weisschuh N, Wissinger B, Zanlonghi X, Hamel C, Spelbrink JN, Sola M, Delettre C (2020) Dominant mutations in SSBP1 impair mtDNA replication and cause optic atrophy and foveopathy. Journal of Clinical Investigation 130(1): 143-156.
  3. Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Schöls L, Bauer P, Wissinger B (2020) Providing genetic diagnosis of hereditary ophthalmic disorders in consanguineous Arab families from Israel and the Palestinian Authority is highly efficient. European Journal of Human Genetics 28: 742-753.
  4. Simcoe M, Weisschuh N, Wissinger B, Hysi P, Hammond CJ (2020) Genetic heritability and associations of Pigmentary Glaucoma. JAMA Ophthalmology 138(3): 294-299.
  5. Fischer MD, Michalakis S, Wilhelm B, Zobor D, Muehlfriedel R, Kohl S, Weisschuh N, Ochakovski GA, Klein R, Schoen C, Sothilingam V, Garcia-Garrido M, Kahle N, Werner A, Dauletbekov D, Paquet-Durand F, Tsang S, Peters T, Seeliger M, Bartz-Schmidt KU, Ueffing M, Zrenner E, Biel M, Wissinger B (2020) Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia. JAMA Ophthalmology 138(6): 1-9.
  6. Weisschuh N, Obermeier CD, Battke F, Bernd A, Kühlewein L, Nasser F, Zobor D, Zrenner E, Weber E, Wissinger B, Biskup S, Stingl K, Kohl S (2020) Genetic architecture of inherited retinal degeneration: A large cohort study from a single diagnostic center over a 9-year period. Human Mutation 41(9): 1514-1527.
  7. Sumaroka A, Cideciyan AV, Sheplock R, Wu V, Kohl S, Wissinger B, Jacobson SG (2020) Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential from Artificial Intelligence. Frontiers Neuroscience 14: 800. PMID: 32848570
  8. Boussaad I, Obermaier CD, Hanss Z, Bobbili Dr, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R (2020) A patient-based model of RNA mis-splicing uncovers treatment targets for Parkinson's disease treatment. Science Translational Medicine 12(560): eaau3960.
  9. Neumann MAC, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünwald A, Wissinger B, Krüger R (2020) Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with optic nerve atrophy. Scientific Reports 10(1): 16736
  10. Borovok N, Weiss C, Sharkia R, Wissinger B, Azem A, Mahajnah M (2020) Gene and protein expression in subjects with Nystagmus associated AHR mutation. Frontiers in Genetics 11: 582796.
  11. Weisschuh N, Mazzola P, Heinrich T, Haack T, Wissinger B, Tonagel F, Kelbsch C (2020) First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report. BMC Medical Genetics 21: 36.
  12. Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Brecht G, Sarah J, Coppieters F, Van Coster R, Leroy BP, De Baere E (2020) Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy. Clinical Genetics 97(3): 426-436.
  13. Feldhaus B, Weisschuh N, Nasser F, den Hollander AI, Cremers FPM, Zrenner E, Kohl S, Zobor D (2020) CEP290 mutation spectrum and delineation of the associated phenotype in a large German cohort: a monocentric study. American Journal of Ophthalmology 211: 142-150
  14. Lee EJ, Chiang WJ, Kroeger H, Bi CX, Chao DL, Skowronska-Krawczyk D, Mastey RR, Tsang SH, Chea L, Kim K, Lambert SR, Grandjean JM, Baumann B, Audo I, Kohl S, Moore AT, Wiseman RL, Carroll J, Lin JH (2020) Multiexon deletion alleles of ATF6 linked to achromatopsia. Journal of Clinical Investigation Insight 5(7): e136041.
  15. Abbas S, Marino V, Weisschuh N, Kieninger S, Solaki M, Dell'Orco D, Koch KW (2020) The neuronal calcium sensor GCAP1 encoded by GUCA1A exhibits heterogeneous functional properties in two cases of retinitis pigmentosa. ACS Chemical Neuroscience 11(10):1458-1470
  16. Weisschuh N, Buena-Atienza E, Wissinger B (2020) Splicing Mutations in Inherited Retinal Diseases. Progress in Retinal and Eye Research Jun 15:100874. Epub ahead of print.
  17. Kuehlewein L, Zobor D, Andreasson S Ayuso C, Banfi S, Bocquet B, Bernd A, Biskup S, Boon C, Downes S, Fischer MD, Holz F, Kellner U, Leroy B, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens A, Wilhelm B, Wissinger B, Kohl S, Weisschuh N, RD-CURE Consortium (2020) The Clinical Phenotype of PDE6A-Related Retinitis Pigmentosa: Disease Characterization in Preparation of a Gene Replacement Trial. JAMA Ophthalmolog Published online October 15, 2020.

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2019

  1. Kloth K, Synofzik M, Kernstock C, Schimpf-Linzenbold S, Schuettauf F, Neu A, Wissinger B, Weisschuh N (2019) Novel mutations in TMEM126A causing non-syndromic autosomal recessive optic atrophy. BMC Medical Genetics 20(1):62.
  2. Zeitz C, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop R, Laffargue F, McLean R, Gottlob I, Bonneau D, Schordert DF, Munier F, McKibbin M, Prescott K, Pelletier V, Dollfuss H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I (2019) 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. Human Mutation 40: 765-787.
  3. Bauwens M, Sangermano R, Naessens S, Garanto A, Weisschuh N, De Zaeytijd J, Albert S, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, de Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Fakin A, Webster AR, de Ravel de l’Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E (2019) ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: non-coding splice, cis-regulatory, structural and recurrent hypomorphic variants. Genetics in Medicine 21(8): 1761-1771.
  4. Peters T, Seitz IP, Michalakis S, Biel M, Wilhelm B, Reichel FF, Ochakovski GA, Zrenner E, Ueffing M, Korbmacher B, Korte S, Bartz-Schmidt KU, Fischer MD, and the RD-Cure Consortium* (2019) Safety and toxicology of ocular gene therapy with recombinant AAV Vector rAAV.hCNGA3 in non-human primates. Human Gene Therapy Clinical Development 30(2):50-56.
  5. Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier C, Kurtenbach A, Zrenner E (2019) A case of X-linked Retinoschisis with atypical fundus appearance. Documenta Ophthalmologica, 139(1):75-81.
  6. Mayer AK*, Mahajnah M*, Thomas M*, Cohen Y, Schulze M, de Baere E, Lorenz B, Traboulsi EI, Kohl S, Bauer P, Gottlob I, Azem A, Sharkia R, Wissinger B (2019) Homozygous stop mutation in the AHR gene encoding the aryl hydrocarbon receptor causes autosomal recessive infantile nystagmus and foveal hypoplasia. Brain 142(6): 1528-1534.
  7. Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S (2019) Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human Mutation 40(8):1145-1155.
  8. Kroeger H, Chiang WC, Felden J, Nguyen A, Lin JH (2019) ER stress and unfolded protein response in ocular health and disease. FEBS Journal 286(2): 399-412.
  9. William A, Kohl S, Zeitz C, Willmann G, Zrenner E, Bartz-Schmidt KU, Gekeler F, Schatz A (2019) Macular sensitivity in patients with congenital stationary night-blindness. British Journal of Ophthalmology 103(10):1507-1510. PMID:30573500
  10. Kuehlewein L, Schöls L, Llavona P, Grimm A, Biskup S, Zrenner E, Kohl S (2019) Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene. Graefes Graefes Archive of Clinical and Experimental Ophthalmology 257(3):629-638.
  11. Weisschuh N (2019) Comment: A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype. Ophthalmic Genetics  40(1):87.
  12. Nasser F, Kurtenbach A, Kohl S, Obermaier C, Stingl K, Zrenner E (2019) Retinal dystrophies with bull's-eye maculopathy along with negative ERGs. Documenta Ophthalmologic 139(1):45-57.
  13. Schatz A, Kelbsch C, Zeitz C, Kohl S, Zrenner E, Gekeler F, Wilhelm H, Wilhelm B, Willmann G (2019) Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness. Graefes Archive of Clinical and Experimental Ophthalmology 257(6):1207-1215
  14. Gong B, Zhang H, Huang L, Chen Y, Shi Y, Tam PO, Zhu X, Huang Y, Lei B, Sundaresan P, Li X, Jiang L, Yang J, Lin Y, Lu F, Chen L, Li Y, Leung CK, Guo X, Zhang S, Huang G, Wu Y, Zhou T, Shuai P, Tham CC, Weisschuh N, Krishnadas SR, Mardin C, Reis A, Yang J, Zhang L, Zhou Y, Wang Z, Qu C, Shaw PX, Pang CP, Sun X, Zhu W, Li DY, Pasutto F, Yang Z (2019) Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis. Genetics in Medicine 21(10):2345-2354.
  15. Mastey RR, Georgiou M, Langlo CS, Kalitzeos A, Patterson EJ, Kane T, Singh N, Vincent A, Moore AT, Tsang SH, Lin JH, Young MP, Hartnett ME, Héon E, Kohl S, Michaelides M, Carroll J (2019) Characterization of Retinal Structure in ATF6-Associated Achromatopsia. Investigative Ophthalmology & Visual Sciences 60(7): 2631-2640.
  16. Stingl K, Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Kohl S, Bonnet C, Mohand-Saïd S, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Sahel JA, Zrenner E (2019) Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study. Documenta Ophthalmologica 139(2):151-160.
  17. Fadaie Z, Khan M, Del Pozo-Valero M, Cornelis SS, Ayuso C, Cremers FPM, Roosing S, The Abca Study Group (2019) Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4. Human Mutation 40(12):2365-2376.
  18. Samanta A, Stingl K, Kohl S, Ries J, Linnert J, Nagel-Wolfrum K (2019) Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations. International Journal of Molecular Sciences 20(24). pii: E6274.
  19. Stingl KT, Kuehlewein L, Weisschuh N, Biskup S, Cremers FPM, Khan MI, Kelbsch C, Peters T, Ueffing M, Wilhelm B, Zrenner E, Stingl K (2019) Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by CRB1 Mutations. Translational Vision Science & Technology 8(6):45.

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2018

  1. Reichel FF, Peters T, Wilhelm B, Biel M, Ueffing M, Wissinger B, Bartz-Schmidt KU, Klein R, Michalakis S, Fischer MD, and the RD-CURE consortium* (2018) Humoral immune response after intravitreal but not after subretinal delivery of AAV8 in non-human primates and patients. Investigative Ophthalmology & Visual Sciences 59(5): 1910-1915. PMID: 29677353
  2. Täger J, Kohl S, Birch D, Wheaton DKH, Wissinger B, Reuter P (2018) An early non-sense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation. Experimental Eye Research 171:48-53. PMID: 29499183
  3. Wawrocka A , Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR (2018) Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. Molecular Vision 24:326-339. PMID: 29769798
  4. Buena-Atienza E, Nasser F, Kohl S, Wissinger B (2018) A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report. BMC Medical Genetics 19(1): 107. PMID: 29940872
  5. Weisschuh N, Stingl K, Audo I, Biskup S, Bocquet B, Branham K, Burstedt MS, De Baere E, De Vries MJ, Golovleva I, Green A, Heckenlively J, Leroy BP, Meunier I, Traboulsi E, Wissinger B, Kohl S (2018) Mutations in the gene encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Human Mutation 39:1366-1371. PMID: 30080950
  6. Wissinger B (2018) Genetische Ursachen und genetische Diagnostik bei hereditären Optikusatrophien. [Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies]. Klinische Monatsblätter Augenheilkunde 235(11):1235-1241. PMID: 30458563
  7. Burkard M*, Kohl S*, Krätzig T, Tanimoto T, Brennenstuhl C, Bausch AE, Junger J, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger M, Michalakis S, Wissinger B§, Ruth P§ (2018) Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. Journal of Clinical Investigation 128: 5663-5675. PMID: 30418171 * equally contributing first authors, § joint senior authors
  8. Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG (2018) Blue Cone Monochromacy caused by the C203R missense mutation or large deletion mutations. Investigative Ophthalmology & Visual Sciences 59(15): 5762-5772. PMID: 30516820
  9. Maguire J, McKibbin M, Khan K, Kohl S, Ali M, McKeefry D (2018) CNGB3 mutations cause severe rod dysfunction. Ophthalmic Genetics 39(1):108-114. PMID:28929832
  10. Feldhaus B, Kohl S, Hörtnagel K, Weisschuh N, Zobor D (2018) Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. Ophthalmic Genetics 39(1):131-134. PMID: 28481129
  11. Nasser F, Weisschuh N, Maffei P, Milan G, Heller C, Zrenner E, Kohl S, Kuehlewein L (2018) Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. Acta Ophthalmologica 96(4):e445-e454. PMID: 29193673
  12. Matet A, Kohl S, Baumann B, Antonio A, Mohand-Said S, Sahel JA, Audo I (2018) Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. Scientific Reports 8(1): 5665. PMID: 29618791
  13. Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T (2018) Olfactory dysfunction in patients with CNGB1-associated Retinitis Pigmentosa. JAMA Ophthalmology 136(7):761-769. PMID: 29800053
  14. Zobor D, Zobor G, Hipp S, Baumann B, Weisschuh N, Biskup S, Sliesoraityte I, Zrenner E, Kohl S (2018) Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort. Investigative Ophthalmology & Visual Sciences 59(7): 3041-3052. PMID: 30025130
  15. Kurtenbach A, Hahn G, Kernstock C, Hipp S, Zobor D, Stingl K, Kohl S, Bonnet C, Mohand-Saïd S, Sliesoraityte I, Sahel JA, Audo I, Fakin A, Hawlina M, Testa F, Simonelli F, Petit C, Zrenner E (2018) Usher Syndrome and Color Vision. Current Eye Research 43: 1295-1301. PMID: 30012035
  16. Kahle NA, Peters T, Zobor D, Kuehlewein L, Kohl S, Zhour A, Werner A, Seitz IP, Sothilingam V, Michalakis S, Biel M, Ueffing M, Zrenner E, Bartz-Schmidt KU, Fischer MD, Wilhelm B (2018) Development of methodology and study protocol: Safety and efficacy of a single subretinal injection of rAAV.hCNGA3 in patients with CNGA3-linked achromatopsia investigated in an exploratory dose-escalation trial. Human Gene Therapy Clinical Development 29(3):121-131. PMID: 30187779
  17. Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP, De Baere E (2018) Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genetics in Medicine 20(2):202-213. PMID: 28749477
  18. Kohl S, Jägle H, Wissinger B, Zobor D (2018) Achromatopsia.
    In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2004 Jun 24 [updated 2018 Sep 20]. PMID: 20301591

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2017

  1. Moulis M, Millet A, Daloyau M, Miquel MC, Ronsin B, Wissinger B, Arnauné-Pelloquin L, Belenguer P (2017) OPA1 haploinsufficiency induces a BNIP3-dependent decrease in mitophagy in neurons: relevance to Dominant Optic Atrophy. Journal of Neurochemistry 140(3):485-494.
  2. Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczynski ME, Kaufman RJ, Tsang SH, Heon E, Kohl S, Lin JH (2017) Achromatopsia Mutations Target Sequential Steps of ATF6 Activation. Proceedings of the National Academy of Sciences USA 114(2):400-405.
  3. Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium* (2017) The clinical phenotype of CNGA3-related achromatopsia: Pre-treatment clinical characterisation in preparation for a gene replacement therapy trial. Investigative Ophthalmology & Visual Sciences 58(2):821-832.
  4. Lisowska J, Lisowski L, Kelbsch C, Maeda F, Richter P, Kohl S, Zobor D, Strasser T, Stingl K, Zrenner E, Peters T, Wilhelm H, Fischer MD, Wilhelm B, RD-CURE Consortium (2017) Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. Investigative Ophthalmology & Visual Sciences 58(2):1274-1282
  5. Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Kohl S, Wissinger B, Weisschuh N (2017) CDHR1 mutations in retinal dystrophies. Scientific Reports 7(1):6992. doi: 10.1038/s41598-017-07117-8
  6. Ochakovski GA, Peters T, Michalakis S, Wilhelm B, Wissinger B, Biel M, Bartz-Schmidt KU, Fischer MD, and the RD-CURE Consortium (2017) Subretinal injection for gene therapy does not cause clinically significant outer nuclear layer thinning in normal primate foveae. Investigative Ophthalmology & Visual Sciences 58(10):4155-4160.
  7. Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S, ACHM Study Group  (2017) CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Human Mutation 38(11): 1579-1591.
  8. Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR (2017) Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. European Journal of Human Genetics 25(11): 1210-1216.
  9. Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yörük E, Vetter J, Kohl S, Wissinger B (2017) Allelic Expression Imbalance in the human retinal transcriptome and potential impact on inherited retinal diseases. Genes (Basel) 8(10): pii:E283. doi: 10.3390/genes8100283.
  10. Seitz IP, Michalakis S, Wilhelm B, Reichel FF, Ochakovski GA, Zrenner E, Ueffing M, Biel M, Wissinger B, Bartz-Schmidt KU, Peters T, Fischer MD and the RD-CURE Consortium (2017) Superior retinal gene transfer and biodistribution profile of subretinal versus intravitreal delivery of AAV8 in nonhuman primates. Investigative Ophthalmology & Visual Sciences 58(13):5792-5801.
  11. Millet AME, Merabet N, Bertholet AM, Daloyau M, Reynier P, Galinier A, Devin A, Wissinger B, Bordeneuve-Guibe J, Belenguer P, Davezac N (2017) Imbalance of the redox state in Dominant Optic Atrophy: the way of mathematical modeling. Archives of the International Society for Antioxidants in Nutrition and Health 5(1): 21-24; DOI: 10.18143/AISANH_v5i1
  12. Reichel F, Dauletbekov D, Klein R, Peters T, Ochakovski GA, Seitz I, Wilhelm B, Ueffing M, Biel M, Wissinger B, Michalakis S, Bartz-Schmidt KU, Fischer MD and the RD-CURE Consortium (2017) AAV8 can induce innate and adaptive immune response in the primate eye. Molecular Therapy 25(12):2648-2660
  13. Kuehlewein L, Nasser F, Gloeckle N, Kohl S, Zrenner E. (2017) Fundus albipunctatus associated with cone dysfunction. Retinal Cases and Brief Reports 11 S73-S76. doi: 10.1097/ICB.0000000000000420
  14. Kamme C, Mayer AK, Strom TM, Andréasson S, Weisschuh N. (2017) Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmologica  95(3):e250-e252.
  15. Vocke F, Weisschuh N, Marino V, Malfatti S, Jacobson SG, Reiff CM, Dell'Orco D, Koch KW (2017) Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1. Human Molecular Genetics 26(1):133-144
  16. Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP Jr, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, Lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Megevand GS, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Domínguez FA, González-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, Álvarez L, García M, González-Iglesias H, Rodríguez-Calvo PP, Cueto LF, Oguz Ç, Tamcelik N, Atalay E, Batu B, Aktas D, Kasım B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivelä T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC (2017) Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature Genetics 49(7): 993-1004.
  17. Gramer G, Gramer E, Weisschuh N (2017) Optic Disc Drusen and Family History of Glaucoma - Results of a Patient-directed Survey. Journal of Glaucoma 26(10):940-946.
  18. Bellingrath JS, Ochakovski GA, Seitz IP, Kohl S, Zrenner E, Hanig N, Prokisch H, Weber BH, Downes SM, Ramsden S, MacLaren RE, Fischer MD (2017)  High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative Ophthalmology & Visual Sciences 58(11):4457-4466.
  19. Schön C, Sothilingam V, Mühlfriedel R, Garcia Garrido M, Beck SC, Tanimoto N, Wissinger B, Paquet-Durand F, Biel M, Michalakis S, Seeliger MW, on behalf of the RD-Cure Consortium* (2017) Gene therapy successfully delays degeneration in a mouse model of PDE6A-linked retinitis pigmentosa (RP 43). Human Gene Therapy 28(12): 1180-1188.
  20. Occelli LM, Schön C, Seeliger MW, Biel M, Michalakis S, Petersen-Jones SM, and the RD-CURE Consortium* (2017) Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Toward Treating Human PDE6A-Retinitis Pigmentosa. Human Gene Therapy 28(12): 1189-1201.

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2016

  1. Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur J Hum Genet. 2016; 24:459-62. PubMed PMID: 26153215.
  2. Bailey JN, Loomis SJ, Kang JH, Allingham RR, Gharahkhani P, Chuen Khor C, Burdon KP, Aschard H, Chasman DI, Igo RP, Hysi PG, Analyst KS, Ashley-Koch A, Brilliant M, Budenz DL, Cheng CY, Choi H, Christen WG, Curhan G, De Vivo I,  Fingert JH, Foster PJ, Fuchs C,  Gaasterland D, Gaasterland T, Hewitt AW, Hu F, Hunter DJ, Khawaja AP, Lee RK, Li Z, Lichter PR,  Mackey DA, McGuffin P, Mitchell P, Moroi SE, Perera SA, Pepper KW, Qi Q, Realini T, Richards JE, Ridker PM, Rimm E, Ritchie M, Schuman JS, Scott WK,  Singh K, Sit AJ, Song YE, Tamimi RM, Topouzis F, Viswanathan AC, Verma SS, Vollrath D, Wang JJ, Weisschuh N, Wissinger B, Wollstein G, Wong TY, Yaspan BL, Zack DJ, Zhang K, EPIC-Norfolk Eye Study, ANZRAG consortium, Weinreb RN, Pericak-Vance MA, Small K, Hammond CJ, Aung T, Liu Y, Vithana EN, MacGregor S, Craig JE, Kraft P, Howell G, Hauser MA, Pasquale LR , Haines JL, Wiggs JL. Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as novel susceptibility loci for primary open angle glaucoma. Nat Genet. 2016; 48:189-94. PubMed PMID: 26752265.
  3. Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsány B, Weleber RG, Wissinger B. Mutation detection in patients with retinal dystrophies using targeted next generation sequencing. PLoS One. 2016; 11:e0145951. PubMed PMID: 26766544.
  4. Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JWR, Rose K, Rosenberg T, Stark Z, Verheij JBGM, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy. Sci Rep. 2016; 6:28253. PubMed PMID: 27339364. 
  5. Buret L, Rebillard G, Brun E, Angebault C, Pequignot MO, Lenoir M, Do-Cruzerio M, Tournier E, Cornille K, Saleur A, Gueguen N, Reynier P, Amati-Bonneau P, Barakat A, Blanchet C, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roux AF, Van Camp G, Wissinger B, Boespflug-Tanguy O, Giraudet F, Puel JL, Lenaers G, Hamel CP, Delprat B, Delettre C. Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells’ degeneration. Cell Death Discov. 2016; 2:16017. PubMed PMID: 27275396.
  6. Millet AM, Bertholet AM, Daloyau M, Reynier P, Galinier A, Devin A, Wissinger B, Belenguer P, Davezac N. Loss of functional OPA1 unbalances redox state: implications in Dominant Optic Atrophy pathogenesis. Ann Clin Trans Neurol 2016; 3:408-421. PubMed PMID: 27547769.
  7. Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B. Antisense oligonucleotide mediated splice correction of a deep intronic point mutation in OPA1. Mol Ther Nucleic Acids. 2016; 5:e390. PubMed PMID: 27874857.
  8. Becirovic E, Böhm S, Nguyen ON, Riedmayr LM, Koch MA, Schulze E, Kohl S, Borsch O, Santos-Ferreira T, Ader M, Michalakis S, Biel M. In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. PLoS Genet. 2016; 12:e1005811. PubMed PMID: 26796962.
  9. Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016; 98:1011-9. PubMed PMID: 27063057.
  10. Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, Patrosso M, Weinreb RN, Penco S, Reis A, Pasutto F. Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma. Orphanet J Rare Dis. 2016; 11:108. PubMed PMID: 27484908.
  11. Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium. Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3). JAMA Ophthalmol. 2016; 134:924-7. PubMed PMID: 27281386.
  12. Chan P, Stolz J, Kohl S, Chiang WC, Lin JH. Endoplasmic reticulum stress in human photoreceptor diseases. Brain Res. 2016; 1648(Pt B):538-541. Review. PubMed PMID: 27117871.
  13. Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C. An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet. 2016; 24:1730-1738. PubMed PMID: 27460420.

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2015

  1. Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. Mol Vis. 2015 Mar 15; 21:306-15. eCollection 2015. PubMed PMID: 25814828.
  2. Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Din MA, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M. Novel C8orf37 mutations cause retinitis pigmentosa in consanguineoufamilies of Pakistani origin. Mol Vis. 2015 Mar 7; 21:236-43. eCollection 2015. PubMed PMID: 25802487.
  3. Brennenstuhl C, Tanimoto N, Burkard M, Wagner R, Bolz S, Trifunovic D, Kabagema-Bilan C, Paquet-Durand F, Beck SC, Huber G, Seeliger MW, Ruth P, Wissinger B, Lukowski R. Targeted ablation of Pde6h in mice reveals cross-species differences in cone and rod phototransduction protein inventory. J Biol Chem. 2015 Mar 4. pii: jbc.M114.611921. [Epub ahead of print] PubMed PMID: 25739440.
  4. Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy. Mol Genet Genomic Med. 2015; 3:14-29. PubMed PMID: 25629076.
  5. Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D. Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. Ophthalmology. 2015 Jan 20. pii: S0161-6420(14)01121-X. doi: 10.1016/j.ophtha.2014.11.025. [Epub ahead of print] PubMed PMID: 25616768.
  6. Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E. 'Behr syndrome' with OPA1 compound heterozygote mutations. Brain. 2015; 138:e321. PubMed PMID: 25146916.
  7. Shaikh RS, Reuter P, Sisk RA, Kausar T, Shahzad M, Maqsood MI, Yousif A, Ali M, Riazuddin S, Wissinger B, Ahmed ZM. Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy. Eur J Hum Genet. 2015; 23:473-80. PubMed PMID: 25052312.
  8. Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. Hum Mutat. 2015; 36:39-42. PubMed PMID: 25346251.
  9. González-Menéndez I, Reinhard K, Tolivia J, Wissinger B, Münch TA. Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells. Invest Ophthalmol Vis Sci. 2015; 56:4835-45. PubMed PMID: 26218912.
  10. Sothilingam V, Garcia Garrido M, Jiao K, Buena-Atienza E, Sahaboglu A, Trifunović D, Balendran S, Koepfli T, Mühlfriedel R, Schön C, Biel M, Heckmann A, Beck SC, Michalakis S, Wissinger B, Seeliger MW, Paquet-Durand F. Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype. Hum Mol Genet. 2015; 24:5486-99. PubMed PMID: 26188004.
  11. Schubert T, Wissinger B. Restoration of synaptic function in sight for degenerative retinal disease. J Clin Invest. 2015; 125:2572-5. PubMed PMID: 26098210.
  12. Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015; 47:757-65. PubMed PMID: 26029869.
  13. Kulkarni M, Schubert T, Baden T, Wissinger B, Euler T, Paquet-Durand F. Imaging Ca2+ dynamics in cone photoreceptor axon terminals of the mouse retina. J Vis Exp. 2015; e52588. PubMed PMID: 25993489.
  14. Schubert T, Gleiser C, Heiduschka P, Franz C, Nagel-Wolfrum K, Sahaboglu A, Weisschuh N, Eske G, Rohbock K, Rieger N, Paquet-Durand F, Wissinger B, Wolfrum U, Hirt B, Singer W, Rüttiger L, Zimmermann U, Knipper M. Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype. Cell Mol Life Sci. 2015; 72:3953-69. PubMed PMID: 25939269.
  15. Luo X, Cideciyan AV, Iannaccone A, Roman AJ, Ditta LC, Jennings BJ, Yatsenko SA, Sheplock R, Sumaroka A, Swider M, Schwartz SB, Wissinger B, Kohl S, Jacobson SG. Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials. PLoS One. 2015; 10:e0125700. eCollection 2015. PubMed PMID: 25909963.
  16. Aung T, Ozaki M, Mizoguchi T, Allingham RR, Li Z, Haripriya A, Nakano S, Uebe S, Harder JM, Chan AS, Lee MC, Burdon KP, Astakhov YS, Abu-Amero KK, Zenteno JC, Nilgün Y, Zarnowski T, Pakravan M, Safieh LA, Jia L, Wang YX, Williams S, Paoli D, Schlottmann PG, Huang L, Sim KS, Foo JN, Nakano M, Ikeda Y, Kumar RS, Ueno M, Manabe S, Hayashi K, Kazama S, Ideta R, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Inoue K, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Aihara M, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Matsuda F, Yamashiro K, Gotoh N, Miyake M, Astakhov SY, Osman EA, Al-Obeidan SA, Owaidhah O, Al-Jasim L, Al Shahwan S, Fogarty RA, Leo P, Yetkin Y, Oğuz Ç, Kanavi MR, Beni AN, Yazdani S, Akopov EL, Toh KY, Howell GR, Orr AC, Goh Y, Meah WY, Peh SQ, Kosior-Jarecka E, Lukasik U, Krumbiegel M, Vithana EN, Wong TY, Liu Y, Koch AE, Challa P, Rautenbach RM, Mackey DA, Hewitt AW, Mitchell P, Wang JJ, Ziskind A, Carmichael T, Ramakrishnan R, Narendran K, Venkatesh R, Vijayan S, Zhao P, Chen X, Guadarrama-Vallejo D, Cheng CY, Perera SA, Husain R, Ho SL, Welge-Luessen UC, Mardin C, Schloetzer-Schrehardt U, Hillmer AM, Herms S, Moebus S, Nöthen MM, Weisschuh N, Shetty R, Ghosh A, Teo YY, Brown MA, Lischinsky I; Blue Mountains Eye Study GWAS Team; Wellcome Trust Case Control Consortium 2, Crowston JG, Coote M, Zhao B, Sang J, Zhang N, You Q, Vysochinskaya V, Founti P, Chatzikyriakidou A, Lambropoulos A, Anastasopoulos E, Coleman AL, Wilson MR, Rhee DJ, Kang JH, May-Bolchakova I, Heegaard S, Mori K, Alward WL, Jonas JB, Xu L, Liebmann JM, Chowbay B, Schaeffeler E, Schwab M, Lerner F, Wang N, Yang Z, Frezzotti P, Kinoshita S, Fingert JH, Inatani M, Tashiro K, Reis A, Edward DP, Pasquale LR, Kubota T, Wiggs JL, Pasutto F, Topouzis F, Dubina M, Craig JE, Yoshimura N, Sundaresan P, John SW, Ritch R, Hauser MA, Khor CC. A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet. 2015; 47:387-92. Erratum in: Nat Genet. 2015; 689. PubMed PMID: 25706626.
  17. Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Acta Ophthalmol. 2015; 93:e281-6. PubMed PMID: 25429852.
  18. Zobor D, Zobor G, Kohl S. Achromatopsia: on the doorstep of a possible therapy. Ophthalmic Res. 2015; 54:103-8. PubMed PMID: 26304472.
  19. Lee H, Purohit R, Sheth V, McLean RJ, Kohl S, Leroy BP, Sundaram V, Michaelides M, Proudlock FA, Gottlob I. Retinal Development in Infants and Young Children with Achromatopsia. Ophthalmology. 2015; 122:2145-7. PubMed PMID: 25972256. Seitz IP, Zhour A, Kohl S, Llavona P, Peter T, Wilhelm B, Zrenner E, Ueffing M, Bartz-Schmidt KU, Fischer MD. Multimodal assessment of choroideremia patients defines pre-treatment characteristics. Graefes Arch Clin Exp Ophthalmol. 2015; 253:2143-50. PubMed PMID: 25744334.
  20. Seitz IP, Zhour A, Kohl S, Llavona P, Peter T, Wilhelm B, Zrenner E, Ueffing M, Bartz-Schmidt KU, Fischer MD. Multimodal assessment of choroideremia patients defines pre-treatment characteristics. Graefes Arch Clin Exp Ophthalmol. 2015; 253:2143-50. PubMed PMID: 25744334.

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2014

  1. Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier. Brain. 2014; 137:2164-77. PubMed PMID: 24970096.
  2. Zobor D, Zrenner E, Wissinger B, Kohl S, Jägle H. GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference? Retina. 2014; 34:1576-87. PubMed PMID: 24875811.
  3. Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D. Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Acta Ophthalmol. 2014 Nov 27. doi: 10.1111/aos.12573. [Epub ahead of print] PubMed PMID: 25429852.
  4. Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet. 2014 Jan;22(1):99-104. PubMed PMID: 23591405.
  5. Zobor D, Balousha G, Baumann B, Wissinger B. Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family. Mol Vis. 2014 Feb 7;20:178-82. eCollection 2014. PubMed PMID: 24520187.
  6. Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, Baumann B, Wissinger B, Yannuzzi LA, Tsang SH. Spectral-Domain Optical Coherence Tomography Staging and Autofluorescence Imaging in Achromatopsia. JAMA Ophthalmol. 2014 Feb 6. [Epub ahead of print] PubMed PMID: 24504161.

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2013

  1. Baden T, Schubert T, Chang L, Wei T, Zaichuk M, Wissinger B, Euler T. A tale of two retinal domains: near-optimal sampling of achromatic contrasts in natural scenes through asymmetric photoreceptor distribution. Neuron. 2013 Dec 4;80(5):1206-17. PubMed PMID: 24314730.
  2. Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. J Med Genet. 2013 Dec;50(12):848-58. PubMed PMID: 24136862.
  3. Cideciyan AV, Hufnagel RB, Carroll J, Sumaroka A, Luo X, Schwartz SB, Dubra A, Land M, Michaelides M, Gardner JC, Hardcastle AJ, Moore AT, Sisk RA, Ahmed ZM, Kohl S, Wissinger B, Jacobson SG. Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy. Hum Gene Ther. 2013 Dec;24(12):993-1006. PubMed PMID: 24067079.
  4. Fahim AT, Khan NW, Zahid S, Schachar IH, Branham K, Kohl S, Wissinger B, Elner VM, Heckenlively JR, Jayasundera T. Diagnostic fundus autofluorescence patterns in achromatopsia. Am J Ophthalmol. 2013 Dec;156(6):1211-1219.e2. PubMed PMID: 23972307.
  5. Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Hum Mutat. 2013 Nov;34(11):1537-46. PMID: 23946133.
  6. Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2013 Jul 11;93(1):110-7. PubMed PMID: 23746546.
  7. Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology. 2013 Nov;120(11):2338-43. PubMed PMID: 23725738.
  8. Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA; European Retinal Disease Consortium, Simonelli F, Banfi S. The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet J Rare Dis. 2013 Jan 28;8:16. PubMed PMID: 23356391.
  9. Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Sénéchal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol. 2013;20(1):13-25. PubMed PMID: 23350551.
  10. Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM. 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. 2013;8(1):e51622. PubMed PMID: 23308101.

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2012

  1. Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome. Arch Ophthalmol. 2012 Nov 1;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PubMed PMID: 23143442.
  2. Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. Rod and Cone Function in Patients with KCNV2 Retinopathy. PLoS One. 2012;7(10):e46762. doi: 10.1371/journal.pone.0046762. Epub 2012 Oct 15. PubMed PMID: 23077521; PubMed Central PMCID: PMC3471896.
  3. Wang I, Khan NW, Branham K, Wissinger B, Kohl S, Heckenlively JR. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. Doc Ophthalmol. 2012 Aug 19. [Epub ahead of print] PubMed PMID: 22903242.
  4. Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC; European Retinal Disease Consortium, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012 Sep 7;91(3):527-32. Epub 2012 Aug 16. PubMed PMID: 22901948.
  5. Achilli A, Iommarini L, Olivieri A, Pala M, Hooshiar Kashani B, Reynier P, La Morgia C, Valentino ML, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AM, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A, Carelli V. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One. 2012;7(8):e42242. Epub 2012 Aug 3. PubMed PMID: 22879922; PubMed Central PMCID: PMC3411744.
  6. Wei T, Schubert T, Paquet-Durand F, Tanimoto N, Chang L, Koeppen K, Ott T, Griesbeck O, Seeliger MW, Euler T, Wissinger B. Light-driven calcium signals in mouse cone photoreceptors. J Neurosci. 2012 May 16;32(20):6981-94. PubMed PMID: 22593066.
  7. Weisschuh N, Wissinger B, Gramer E. A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia. Mol Vis. 2012;18:751-7. Epub 2012 Mar 29. PubMed PMID: 22509105; PubMed Central PMCID: PMC3324353.
  8. Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30. Erratum in: Am J Hum Genet. 2012 Jul 13;91(1):209. PubMed PMID: 22325361; PubMed Central PMCID: PMC3276675.
  9. Weisschuh N, Aisenbrey S, Wissinger B, Riess A. Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract. Mol Vis. 2012;18:174-80. Epub 2012 Jan 21. PubMed PMID: 22312185; PubMed Central PMCID: PMC3272051.
  10. Kohl S, Kitiratschky V, Papke M, Schaich S, Sauer A, Wissinger B. Genes and mutations in autosomal dominant cone and cone-rod dystrophy. Adv Exp Med Biol. 2012;723:337-43. PubMed PMID: 22183351.
  11. Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012 Jan 13;90(1):102-9. Epub 2011 Dec 15. PubMed PMID: 22177090; PubMed Central PMCID: PMC3257957.

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2011

  1. Nguyen D, Alavi MV, Kim KY, Kang T, Scott RT, Noh YH, Lindsey JD, Wissinger B, Ellisman MH, Weinreb RN, Perkins GA, Ju WK. A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics. Cell Death Dis. 2011 Dec 8;2:e240. doi: 10.1038/cddis.2011.117. PubMed PMID: 22158479; PubMed Central PMCID: PMC3252734.
  2. Leo-Kottler B, Wissinger B. [Leber's hereditary optic neuropathy]. Ophthalmologe. 2011 Dec;108(12):1179-92; quiz 1193-4. German. PubMed PMID: 22130685.
  3. Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2. Invest Ophthalmol Vis Sci. 2011 Nov 7;52(12):8621-9. Print 2011 Nov. PubMed PMID: 21911584.
  4. Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12. PubMed PMID: 21882291.
  5. Suesskind D, Schatz A, Schnichels S, Coupland SE, Lake SL, Wissinger B, Bartz-Schmidt KU, Henke-Fahle S. GDF-15: a novel serum marker for metastases in uveal melanoma patients. Graefes Arch Clin Exp Ophthalmol. 2012 Jun;250(6):887-95. Epub 2011 Sep 1. PubMed PMID: 21881845.
  6. Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet. 2011 Aug 12;89(2):253-64. PubMed PMID: 21835304; PubMed Central PMCID: PMC3155188.
  7. 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. 2012 Mar;33(1):34-8. Epub 2011 Jul 5. PubMed PMID: 21728811.
  8. 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 May 15;20(10):1893-905. Epub 2011 Feb 24. PubMed PMID: 21349918.
  9. Grau T, Artemyev NO, Rosenberg T, Dollfus H, Haugen OH, Cumhur Sener E, Jurklies B, Andreasson S, Kernstock C, Larsen M, Zrenner E, Wissinger B, Kohl S. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011 Feb 15;20(4):719-30. Epub 2010 Dec 1. PubMed PMID: 21127010; PubMed Central PMCID: PMC3269206.
  10. Weisschuh N, De Baere E, Wissinger B, Tümer Z. Clinical utility gene card for: Axenfeld-Rieger syndrome. Eur J Hum Genet. 2011 Mar;19(3). doi: 10.1038/ejhg.2010.163. Epub 2010 Oct 13. PubMed PMID: 20940740; PubMed Central PMCID: PMC3061995.
  11. Lodi R, Tonon C, Valentino ML, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B, Carelli V. Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol. 2011 Jan;68(1):67-73. Epub 2010 Sep 13. PubMed PMID: 20837821.

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2010

  1. Trifunović 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 Sep 1;518(17):3604-17. PubMed PMID: 20593360.
  2. 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 Jun 14;5:25. PubMed PMID: 20546606; PubMed Central PMCID: PMC2893178.
  3. Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR, Wissinger B. Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Hum Mutat. 2010 Jul;31(7):830-9. PubMed PMID: 20506298.
  4. 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. 2010 Sep;67(18):3173-86. Epub 2010 May 14. PubMed PMID: 20467778.
  5. Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, 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 Aug;117(8):1547-53. Epub 2010 Apr 24. PubMed PMID: 20417568.
  6. Kohl S, Jägle H, Sharpe LT, Wissinger B. Achromatopsia. 2004 Jun 24 [updated 2010 Dec 23]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from www.ncbi.nlm.nih.gov/books/NBK1418/ PubMed PMID: 20301591.
  7. 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;664:593-9. PubMed PMID: 20238063.
  8. Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Wissinger B, Weisschuh N. Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population. BMC Genet. 2010 Jan 28;11:8. PubMed PMID: 20109175; PubMed Central PMCID: PMC2834599.

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2009

  1. Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, 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 autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5. PubMed PMID: 19896113; PubMed Central PMCID: PMC2775830.
  2. 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 J, 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 U S A. 2009 Nov 17;106(46):19581-6. Epub 2009 Nov 3. PubMed PMID: 19887631; PubMed Central PMCID: PMC2780790.
  3. Heiduschka P, Schnichels S, Fuhrmann N, Hofmeister S, Schraermeyer U, Wissinger B, Alavi MV. Electrophysiological and histologic assessment of retinal ganglion cell fate in a mouse model for OPA1-associated autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1424-31. Epub 2009 Oct 15. PubMed PMID: 19834041.
  4. 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 Dec;220(2):404-9. Epub 2009 Oct 6. PubMed PMID: 19815013.
  5. Andersen MK, Christoffersen NL, 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. 2010 Jan;51(1):89-95. Epub 2009 Sep 24. PubMed PMID: 19797231.
  6. 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. PubMed PMID: 19754948; PubMed Central PMCID: PMC2751751.
  7. 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 Jan;51(1):493-7. Epub 2009 Sep 8. PubMed PMID: 19737879.
  8. Zeitz C, Labs S, Lorenz B, Forster U, Uksti 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, Hüffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W. Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci. 2009 Dec;50(12):5919-26. Epub 2009 Jul 2. PubMed PMID: 19578023.
  9. 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. PubMed PMID: 19459154.
  10. 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. 2010 Feb;19(2):136-41. PubMed PMID: 19373106.
  11. 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 Apr;147(4):744-53. Epub 2009 Feb 4. PubMed PMID: 19195637.
  12. 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 Feb;46(2):136-44. PubMed PMID: 19181907.
  13. Wissinger B. [Cone dystrophy--of the significance of a minority of photoreceptors]. Ophthalmologe. 2009 Feb;106(2):97-8. German. PubMed PMID: 19156428.
  14. 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. PubMed PMID: 19038374.

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2008

  1. 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. PubMed PMID: 18653602.
  2. 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 Oct;29(10):1228-36. PubMed PMID: 18521937.
  3. 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 Nov;74(5):476-80. Epub 2008 May 21. PubMed PMID: 18498376.
  4. Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadalà 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 Nov;49(11):5015-23. Epub 2008 May 16. PubMed PMID: 18487367.
  5. 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. PubMed PMID: 18445228.
  6. 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. PubMed PMID: 18285826; PubMed Central PMCID: PMC2579899.
  7. 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. PubMed PMID: 18235024.
  8. 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. PubMed PMID: 18222991.
  9. 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. PubMed PMID: 18158317.

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2007

  1. 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. PubMed PMID: 17924349; PubMed Central PMCID: PMC2265653.
  2. 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. PubMed PMID: 17828551.
  3. 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. PubMed PMID: 17722006.
  4. 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 Oct;85(4):450-61. Epub 2007 Jun 27. PubMed PMID: 17663987.
  5. 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. PubMed PMID: 17652762.
  6. Weisschuh N, Wolf C, Wissinger B, Gramer E. Variations in the WDR36 gene in German patients with normal tension glaucoma. Mol Vis. 2007 May 16;13:724-9. PubMed PMID: 17563723; PubMed Central PMCID: PMC2765470.
  7. 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. PubMed PMID: 17389517.
  8. 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. PubMed PMID: 17320181.
  9. 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. PubMed PMID: 17314202.
  10. Roni V, Carpio R, Wissinger B. Mapping of transcription start sites of human retina expressed genes. BMC Genomics. 2007 Feb 7;8:42. PubMed PMID: 17286855; PubMed Central PMCID: PMC1802077.
  11. Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007 Feb;44(2):153-60. Epub 2006 Sep 8. PubMed PMID: 16963483; PubMed Central PMCID: PMC2598068.

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2006

  1. Wycisk KA, Zeitz C, Feil S, Wittmer M, Forster U, Neidhardt J, Wissinger B, Zrenner E, Wilke R, Kohl S, Berger W. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7. Epub 2006 Sep 27. PubMed PMID: 17033974; PubMed Central PMCID: PMC1698577.
  2. Zeitz C, Kloeckener-Gruissem B, Forster U, Kohl S, Magyar I, Wissinger B, Mátyás G, Borruat FX, Schorderet DF, Zrenner E, Munier FL, Berger W. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet. 2006 Oct;79(4):657-67. Epub 2006 Aug 23. PubMed PMID: 16960802; PubMed Central PMCID: PMC1592568.
  3. 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 Sep;47(9):3846-52. Erratum in: Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5162. PubMed PMID: 16936096.
  4. 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. PubMed PMID: 16698014.
  5. 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. PubMed PMID: 16323009.

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2005

  1. Varsányi 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. PubMed PMID: 16319819.
  2. Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. Epub 2005 Nov 3. Erratum in: Hum Mol Genet. 2006 May 1;15(9):1559. PubMed PMID: 16269441.
  3. Schuster A, Weisschuh N, Jägle 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. PubMed PMID: 16170112; PubMed Central PMCID: PMC1772865.
  4. 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. PubMed PMID: 15851979.
  5. 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. 2005 Apr;109(4):393-9. Epub 2005 Feb 8. PubMed PMID: 15700187.
  6. Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle 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. PubMed PMID: 15657609.

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2004

  1. 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. PubMed PMID: 15579992.
  2. Yang Z, Alvarez BV, Chakarova C, Jiang L, Karan G, Frederick JM, Zhao Y, Sauvé 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. PubMed PMID: 15563508.
  3. 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. PubMed PMID: 15557429.
  4. 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. PubMed PMID: 15505825.
  5. 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. PubMed PMID: 15505078.
  6. 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. PubMed PMID: 15459973.
  7. 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. PubMed PMID: 15459792.
  8. Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg 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. PubMed PMID: 15258582.
  9. Jeck N, Waldegger S, Lampert A, Boehmer C, Waldegger P, Lang PA, Wissinger B, Friedrich B, Risler T, Moehle R, Lang UE, Zill P, Bondy B, Schaeffeler E, Asante-Poku S, Seyberth H, Schwab M, Lang F. Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension. 2004 Jun;43(6):1175-81. Epub 2004 May 17. PubMed PMID: 15148291.
  10. 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. PubMed PMID: 15069569.
  11. Tränkner D, Jägle 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. PubMed PMID: 14715947.

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2003 - 1988

  1. 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. PubMed PMID: 12827496.
  2. Pesch K, Zeitz C, Fries JE, Münscher 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. PubMed PMID: 12714669.
  3. 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. PubMed PMID: 12657579.
  4. 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. PubMed PMID: 12461695.
  5. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet. 2002 Jun;23(2):109-20. PubMed PMID: 12187429.
  6. 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. PubMed PMID: 12128019.
  7. 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. PubMed PMID: 12111638.
  8. Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà 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. PubMed PMID: 12077706; PubMed Central PMCID: PMC379175.
  9. 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. PubMed PMID: 11864893; PubMed Central PMCID: PMC1771063.
  10. Scholl HP, Langrová 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. PubMed PMID: 11581222.
  11. Wissinger B, Gamer D, Jägle 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. PubMed PMID: 11536077; PubMed Central PMCID: PMC1226059.
  12. 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. PubMed PMID: 11462159.
  13. 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. PubMed PMID: 11440988.
  14. 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. PubMed PMID: 11406178.
  15. 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. PubMed PMID: 11408949.
  16. 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. PubMed PMID: 11389483; PubMed Central PMCID: PMC1226034.
  17. 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. PubMed PMID: 11328729.
  18. Wittig I, Augstein P, Brown GK, Fujii T, Rötig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert MS. Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain. J Inherit Metab Dis. 2001 Feb;24(1):15-27. PubMed PMID: 11286378.
  19. 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. PubMed PMID: 11172618.
  20. 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. PubMed PMID: 11062472.
  21. 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. PubMed PMID: 11017080.
  22. Kohl S, Baumann B, Broghammer M, Jägle 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. PubMed PMID: 10958649.
  23. 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. PubMed PMID: 10663786.
  24. 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. PubMed PMID: 10447650.
  25. 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. PubMed PMID: 10447644.
  26. 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. PubMed PMID: 10359341.
  27. 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. PubMed PMID: 10232633.
  28. 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. PubMed PMID: 9893830.
  29. 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. PubMed PMID: 9888420.
  30. 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. PubMed PMID: 9831753.
  31. 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. PubMed PMID: 9792852; PubMed Central PMCID: PMC1377535.
  32. 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. PubMed PMID: 9782731.
  33. Wissinger B, Jägle 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. PubMed PMID: 9721202.
  34. Kohl S, Marx T, Giddings I, Jägle 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. PubMed PMID: 9662398.
  35. Wissinger B, Müller 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. PubMed PMID: 9517456.
  36. 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. PubMed PMID: 9279751; PubMed Central PMCID: PMC1051021.
  37. 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. PubMed PMID: 9177303.
  38. Fauser S, Wissinger B. Simultaneous detection of multiple point mutations using fluorescence-coupled competitive primer extension. Biotechniques. 1997 May;22(5):964-8. PubMed PMID: 9149883.
  39. Koehler MR, Wissinger B, Gorboulev V, Koepsell H, Schmid M. The two human organic cation transporter genes SLC22A1 and SLC22A2 are located on chromosome 6q26. Cytogenet Cell Genet. 1997;79(3-4):198-200. PubMed PMID: 9605850.
  40. Blin N, Scholz M, Wissinger B, Müllenbach R, Pusch C. Expressed sequences within pericentromeric heterochromatin of human chromosome 22. Mamm Genome. 1997;8(11):859-62. PubMed PMID: 9337403.
  41. 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. PubMed PMID: 8949721; PubMed Central PMCID: PMC505593.
  42. 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. PubMed PMID: 8854108.
  43. Börner GV, Mörl M, Wissinger B, Brennicke A, Schmelzer C. RNA editing of a group II intron in Oenothera as a prerequisite for splicing. Mol Gen Genet. 1995 Mar 20;246(6):739-44. PubMed PMID: 7898443.
  44. 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. PubMed PMID: 7719084.
  45. Lippok B, Brennicke A, Wissinger B. Differential RNA editing in closely related introns in Oenothera mitochondria. Mol Gen Genet. 1994 Apr;243(1):39-46. PubMed PMID: 7514712.
  46. Wissinger B, Brennicke A, Schuster W. Regenerating good sense: RNA editing and trans splicing in plant mitochondria. Trends Genet. 1992 Sep;8(9):322-8. Review. PubMed PMID: 1365399.
  47. Binder S, Marchfelder A, Brennicke A, Wissinger B. RNA editing in trans-splicing intron sequences of nad2 mRNAs in Oenothera mitochondria. J Biol Chem. 1992 Apr 15;267(11):7615-23. PubMed PMID: 1559998.
  48. Lippok B, Brennicke A, Wissinger B. The coxII gene in carrot mitochondria contains two introns. Mol Gen Genet. 1992 Mar;232(2):322-7. PubMed PMID: 1372953.
  49. Knoop V, Schuster W, Wissinger B, Brennicke A. Trans splicing integrates an exon of 22 nucleotides into the nad5 mRNA in higher plant mitochondria. EMBO J. 1991 Nov;10(11):3483-93. PubMed PMID: 1915303; PubMed Central PMCID: PMC453077.
  50. Schuster W, Ternes R, Knoop V, Hiesel R, Wissinger B, Brennicke A. Distribution of RNA editing sites in Oenothera mitochondrial mRNAs and rRNAs. Curr Genet. 1991 Nov;20(5):397-404. PubMed PMID: 1725505.
  51. Wissinger B, Schuster W, Brennicke A. Trans splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans-splicing group II intron sequences. Cell. 1991 May 3;65(3):473-82. PubMed PMID: 1850322.
  52. Wissinger B, Schuster W, Brennicke A. Species-specific RNA editing patterns in the mitochondrial rps13 transcripts of Oenothera and Daucus. Mol Gen Genet. 1990 Dec;224(3):389-95. PubMed PMID: 2266944.
  53. Hiesel R, Wissinger B, Brennicke A. Cytochrome oxidase subunit II mRNAs in Oenothera mitochondria are edited at 24 sites. Curr Genet. 1990 Nov;18(4):371-5. PubMed PMID: 2174746.
  54. Schuster W, Hiesel R, Wissinger B, Brennicke A. RNA editing in the cytochrome b locus of the higher plant Oenothera berteriana includes a U-to-C transition. Mol Cell Biol. 1990 May;10(5):2428-31. PubMed PMID: 2325659; PubMed Central PMCID: PMC360593.
  55. Schuster W, Unseld M, Wissinger B, Brennicke A. Ribosomal protein S14 transcripts are edited in Oenothera mitochondria. Nucleic Acids Res. 1990 Jan 25;18(2):229-33. PubMed PMID: 2326162; PubMed Central PMCID: PMC330258.
  56. Schuster W, Wissinger B, Unseld M, Brennicke A. Transcripts of the NADH-dehydrogenase subunit 3 gene are differentially edited in Oenothera mitochondria. EMBO J. 1990 Jan;9(1):263-9. PubMed PMID: 1688531; PubMed Central PMCID: PMC551657.
  57. Hiesel R, Wissinger B, Schuster W, Brennicke A. RNA editing in plant mitochondria. Science. 1989 Dec 22;246(4937):1632-4. PubMed PMID: 2480644.
  58. Wissinger B, Hiesel R, Schuster W, Brennicke A. The NADH-dehydrogenase subunit 5 gene in Oenothera mitochondria contains two introns and is co-transcribed with the 5 S rRNA gene. Mol Gen Genet. 1988 Apr;212(1):56-65. PubMed PMID: 3163767.

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