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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.
Investigative Ophthalmology & Visual Science|September 8, 2018
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290Dyon Valkenburg, Caroline van Cauwenbergh, Birgit Lorenz, et al.
Investigative Ophthalmology & Visual Science|October 1, 2010
IQCB1 mutations in patients with leber congenital amaurosisAlejandro Estrada-Cuzcano, Robert K Koenekoop, Frauke Coppieters, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
EMBO Molecular Medicine|April 6, 2021
Delivery of oligonucleotide-based therapeutics: challenges and opportunitiesSuzan M Hammond, Annemieke Aartsma-Rus, Sandra Alves, et al.
Plos One|March 17, 2015
Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistanMaleeha Maria, Muhammad Ajmal, Maleeha Azam, et al.
Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 22, 2020
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formationJulio C Corral-Serrano, Ideke J C Lamers, Jeroen van Reeuwijk, et al.
Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.
American Journal of Human Genetics|August 3, 2010
Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosaDikla Bandah-Rozenfeld, Rob W J Collin, Eyal Banin, et al.
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