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Investigative Ophthalmology & Visual Science|March 28, 2009
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathyF Nienke Boonstra, C Erik van Nouhuys, José Schuil, et al.Investigative Ophthalmology & Visual Science|October 18, 2014
Foveal sparing in Stargardt diseaseRamon A C van Huet, Nathalie M Bax, Sarah C Westeneng-Van Haaften, et al.Human Genetics|June 29, 2004
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)Mirjam W J Luijendijk, Erwin Van Wijk, Anne M L C Bischoff, et al.Eye (London, England)|September 9, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approachAnna Esteve-Garcia, Ariadna Padró-Miquel, Jaume Català-Mora, et al.Journal of Medical Genetics|April 17, 2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular colobomaMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Investigative Ophthalmology & Visual Science|November 15, 2016
Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis PigmentosaGaluh D N Astuti, Gavin Arno, Sarah Hull, et al.Genes|January 21, 2023
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UKBenjamin Mc Clinton, Zelia Corradi, Martin McKibbin, et al.Journal of Molecular Medicine (Berlin, Germany)|November 12, 2005
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndromeE Kalay, A P M de Brouwer, R Caylan, et al.Human Mutation|January 30, 2008
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA bindingRob W J Collin, Ramesh Chellappa, Robert-Jan Pauw, et al.JAMA Ophthalmology|August 21, 2020
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt DiseaseEsmee H Runhart, Mubeen Khan, Stéphanie S Cornelis, et al.Pageof 31