Associated Papers
Detailed Clinical, Ophthalmic, and Genetic Characterization of MYO7A-Associated Usher Syndrome.
Romo-Aguas JC et al.
Investigative Ophthalmology & Visual Science, 2025
40257781 (PubMed )
Supplement: iovs-66-4-60_s002.xlsx › Genetic_results
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2011
Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh I et al.
Molecular Vision, 2010
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Riazuddin S et al.
Human Mutation, 2008
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