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Swirski, Sebastian; Röger, Carsten; Pieńkowska-Schelling, Aldona; Ihlenburg, Cynthia; Fischer, Gösta; May, Oliver; Vorm, Mariann; Owczarek-Lipska, Marta; Neidhardt, John (2018). A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice. Investigative ophthalmology & visual science, 59(1), pp. 561-571. Association for Research in Vision and Ophthalmology 10.1167/iovs.17-22658
Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte Erika; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6(28755), p. 28755. Nature Publishing Group 10.1038/srep28755
Lemke, Johannes R.; Hendrickx, Rik; Geider, Kirsten; Laube, Bodo; Schwake, Michael; Harvey, Robert J.; James, Victoria M.; Pepler, Alex; Steiner, Isabelle; Hörtnagel, Konstanze; Neidhardt, John; Ruf, Susanne; Wolff, Markus; Bartholdi, Deborah; Caraballo, Roberto; Platzer, Konrad; Suls, Arvid; De Jonghe, Peter; Biskup, Saskia and Weckhuysen, Sarah (2014). GRIN2B mutations in west syndrome and intellectual disability with focal epilepsy. Annals of neurology, 75(1), pp. 147-154. Wiley-Blackwell 10.1002/ana.24073
Poloschek, Charlotte M; Bach, Michael; Lagreze, W A; Glaus, Esther; Lemke, Johannes; Berger, Wolfgang; Neidhardt, John (2010). ABCA4 and ROM1: Implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative ophthalmology & visual science, 51(8), pp. 4253-65. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.09-4655
Neidhardt, John; Glaus, Esther; Lorenz, Birgit; Netzer, Christian; Li, Yün; Schambeck, Maria; Wittmer, Mariana; Feil, Silke; Kirschner-Schwabe, Renate; Rosenberg, Thomas; Cremers, Frans P M; Bergen, Arthur A B; Barthelmes, Daniel; Baraki, Husnia; Schmid, Fabian; Tanner, Gaby; Fleischhauer, Johannes; Orth, Ulrike; Becker, Christian; Wegscheider, Erika; ... (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular vision, 14, pp. 1081-1093. Atlanta, Ga.: Emory University
Neidhardt, John; Glaus, Esther; Barthelmes, Daniel; Zeitz, Christina; Fleischhauer, Johannes; Berger, Wolfgang (2007). Identification and characterization of a novel RPGR isoform in human retina. Human mutation, 28(8), pp. 797-807. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.20521
Neidhardt, John; Barthelmes, Daniel; Farahmand, Firouzeh; Fleischhauer, Johannes C; Berger, Wolfgang (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative ophthalmology & visual science, 47(4), pp. 1630-5. Hagerstown, Md.: Association for Research in Vision and Ophthalmology 10.1167/iovs.051317
