Associated Papers
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004
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