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Whole Exome Sequencing of Spanish Patients diagnosed with rare ophtalmogenetic disorders: Macular Dystrophy, Retinitis Pigmentosa and Leber's congenital amaurosis.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005746 unspecified 4
Publications Citations
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep 11: 2021 1526
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Hum Genet 140: 2021 1665-1678