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Lancet (London, England)|January 21, 2014
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trialRobert E MacLaren, Markus Groppe, Alun R Barnard, et al.
Investigative Ophthalmology & Visual Science|September 14, 2016
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1Gavin Arno, Sarah Hull, Keren Carss, et al.
Genes|July 29, 2025
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical DiagnosisSofia Kulyamzin, Rina Leibu, Hadas Newman, et al.
Ophthalmology|October 3, 2013
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosaAnna M Siemiatkowska, L Ingeborgh van den Born, P Martin van Hagen, et al.
Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.
Investigative Ophthalmology & Visual Science|April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli populationDikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, 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.
American Journal of Human Genetics|August 21, 2012
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaSusanne Kohl, Frauke Coppieters, Françoise Meire, 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.
Investigative Ophthalmology & Visual Science|April 27, 2022
ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt DiseaseZelia Corradi, Manar Salameh, Mubeen Khan, et al.
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