Publications by authors named "Alejandra Damian Verde"
Article Synopsis
- - The study investigates the genetic basis of developmental eye disorders like anophthalmia, microphthalmia, and coloboma, linking them to variants in the Wnt-pathway gene.
- - Researchers identified these variants in individuals from the UK, France, and Spain using advanced genetic sequencing techniques, leading to the discovery of new families with ocular coloboma.
- - The results suggest that Wnt-pathway gene variants are primarily associated with isolated coloboma and occasionally with microphthalmia, while additional symptoms in some cases may arise from different genetic mutations.
The introduction of NGS in genetic diagnosis has increased the repertoire of variants and genes involved and the amount of genomic information produced. We built an allelic-frequency (AF) database for a heterogeneous cohort of genetic diseases to explore the aggregated genomic information and boost diagnosis in inherited retinal dystrophies (IRD). We retrospectively selected 5683 index-cases with clinical exome sequencing tests available, 1766 with IRD and the rest with diverse genetic diseases.
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