Publications

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. PMID: 32908004

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. PMID: 32352493

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. PMID: 32531858

Allen F, Crepaldi L, Alsinet C, Strong AJ, Kleshchevnikov V, De Angeli P, Páleníková P, Khodak A, Kiselev V, Kosicki M, Bassett AR, Harding H, Galanty Y, Muñoz-Martínez F, Metzakopian E, Jackson SP, Parts L (2019) Predicting the mutations generated by repair of Cas9-induced double-strand breaks. Nature Biotechnology 37: 64-72. PMID: 30480667

Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B (2016) Antisense oligonucleotide mediated splice correction of a deep intronic point mutation in OPA1. Molecular Therapy – Nucleic Acids 5(11): e390. PMID: 27874857

Schuster A, Weisschuh N, Jägle H, Besch D, Janecke A, Zierler D, Tippmann S, Zrenner E, Wissinger B (2005) Novel Rhodopsin mutations and genotype-phenotype correlation in patients with autosomal-dominant retinitis pigmentosa. British Journal of Ophthalmology 89: 1258-1264. PMID: 16170112