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Song, Fei and Owczarek-Lipska, Marta and Ahmels, Tim and Book, Marius and Aisenbrey, Sabine and Menghini, Moreno and Barthelmes, Daniel and Schrader, Stefan and Spital, Georg and Neidhardt, John (2021) High-throughput sequencing to identify mutations associated with retinal dystrophies. Genes (Basel), 12 (8). pp. 1-16. ISSN 2073-4425
Breuel, Saskia and Vorm, Mariann and Bräuer, Anja U. and Owczarek-Lipska, Marta and Neidhardt, John (2019) Combining engineered U1 snRNA and antisense oligonucleotides to improve the treatment of a BBS1 splice site mutation. Molecular Therapy / Nucleic Acids, 17. pp. 123-130. ISSN 2162-2531
Courage, Carolina and Jackson, Christopher B. and Owczarek-Lipska, Marta and Jamsheer, Aleksander and Sowińska-Seidler, Anna and Piotrowicz, Małgorzata and Jakubowski, Lucjusz and Dallèves, Fanny and Riesch, Erik and Neidhardt, John and Lemke, Johannes R. (2019) Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome. American journal of medical genetics, 179 (12). pp. 2447-2453. ISSN 1552-4833
Owczarek-Lipska, Marta and Mulahasanovic, Lejla and Obermaier, Carolin D. and Hörtnagel, Konstanze and Neubauer, Bernd A. and Korenke, Georg-Christoph and Biskup, Saskia and Neidhardt, John (2019) Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. Molecular biology reports, 46 (4). pp. 4507-4516. ISSN 1573-4978
Swirski, Sebastian and Röger, Carsten and Pienkowska-Schelling, Aldona and Ihlenburg, Cynthia and Fischer, Gösta and May, Oliver and Vorm, Mariann and Owczarek-Lipska, Marta and Neidhardt, John (2018) A Novel C-Terminal Mutation in Gsdma3 (C+/H−) Leads to Alopecia and Corneal Inflammatory Response in Mice. Investigative Opthalmology & Visual Science, 59 (1). p. 561. ISSN 1552-5783
Reiff, Charlotte and Owczarek-Lipska, Marta and Spital, Georg and Röger, Carsten and Hinz, Hebke and Jüschke, Christoph and Thiele, Holger and Altmüller, Janine and Nürnberg, Peter and Da Costa, Romain and Neidhardt, John (2016) The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family. Scientific Reports, 6 (1). ISSN 2045-2322
