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American Journal of Human Genetics|October 6, 2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinKarlien L M Coene, Ronald Roepman, Dan Doherty, et al.
Science Translational Medicine|May 17, 2019
Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retinaPatrizia Tornabene, Ivana Trapani, Renato Minopoli, et al.
The Journal of Clinical Investigation|May 25, 2011
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and miceKarsten Boldt, Dorus A Mans, Jungyeon Won, et al.
Retina (Philadelphia, Pa.)|February 8, 2020
LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONSLaurence H M Pierrache, Babak Ghafaryasl, Muhammad I Khan, et al.
Investigative Ophthalmology & Visual Science|August 1, 2006
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variantsArijit Mukhopadhyay, Konstantinos Nikopoulos, Alessandra Maugeri, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
Investigative Ophthalmology & Visual Science|February 5, 2010
A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotypeKarin W Littink, Jan-Willem R Pott, Rob W J Collin, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
JAMA Ophthalmology|April 11, 2024
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-AnalysisStéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, et al.
Investigative Ophthalmology & Visual Science|June 18, 2010
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizationsKarin W Littink, Robert K Koenekoop, L Ingeborgh van den Born, et al.
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