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American Journal of Human Genetics|May 6, 2014
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyPanagiotis I Sergouniotis, Christina Chakarova, Cian Murphy, et al.
Cellular and Molecular Life Sciences : CMLS|May 6, 2015
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotypeTimm Schubert, Corinna Gleiser, Peter Heiduschka, et al.
Investigative Ophthalmology & Visual Science|November 13, 2025
Subretinal Injection Volume Correlates to Persistent Outer Retinal Thinning in the Pig EyeImmanuel P Seitz, Ruslan Nyshchuk, Zdenka Ellederova, et al.
Human Molecular Genetics|October 9, 2014
Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cellsNele Schwarz, Amanda-Jayne Carr, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|January 21, 2025
Safety of Human USH1C Transgene Expression Following Subretinal Injection in Wild-Type PigsPeter Kiraly, Joshua Klein, Immanuel P Seitz, et al.
Nature Communications|July 10, 2015
CEP63 deficiency promotes p53-dependent microcephaly and reveals a role for the centrosome in meiotic recombinationMarko Marjanović, Carlos Sánchez-Huertas, Berta Terré, et al.
Human Molecular Genetics|October 2, 2008
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like proteinErwin van Wijk, Ferry F J Kersten, Aileen Kartono, et al.
Experimental Eye Research|May 20, 2018
Usherin defects lead to early-onset retinal dysfunction in zebrafishMargo Dona, Ralph Slijkerman, Kimberly Lerner, et al.
Human Molecular Genetics|June 23, 2007
MPP1 links the Usher protein network and the Crumbs protein complex in the retinaIlse Gosens, Erwin van Wijk, Ferry F J Kersten, et al.
Human Molecular Genetics|January 26, 2006
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1Erwin van Wijk, Bert van der Zwaag, Theo Peters, et al.
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