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NPJ Genomic Medicine|November 19, 2021
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseasesZeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, 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.
Acta Ophthalmologica|February 2, 2021
Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophiesMays Talib, Mary J van Schooneveld, Jan Wijnholds, et al.
International Journal of Molecular Sciences|July 2, 2021
Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP CasesJanine Reurink, Adrian Dockery, Dominika Oziębło, 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.
Retina (Philadelphia, Pa.)|March 13, 2018
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up StudyMays Talib, Mary J van Schooneveld, Alberta A Thiadens, et al.
Investigative Ophthalmology & Visual Science|February 5, 2026
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 PatientsEstefania Cobos, Jaume Català-Mora, Cinthia Aguilera, et al.
Ophthalmology|March 2, 2016
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis PigmentosaLaurence H M Pierrache, Bas P Hartel, Erwin van Wijk, et al.
Molecular Vision|June 17, 2008
Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testingJohn Neidhardt, Esther Glaus, Birgit Lorenz, 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.
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