anophthalmia

Rare disease genetic diagnosis with the Genomic England 100,000 Genomes Project (GEL) UK
collaborative research with the Hearing and Sight GECIP at GEL
Nicholas Owen
Rare disease genetic diagnosis with the Genomic England 100,000 Genomes Project (GEL) UK
Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis
Purpose: Ocular coloboma arises from genetic or environmental perturbations that inhibit optic fissure (OF) fusion during early eye development. Despite high genetic heterogeneity, 70% to 85% of patients remain molecularly undiagnosed. In this study, we have identified new potential causative genes using cross-species comparative meta-analysis.
Nicholas Owen, M Toms, RM Young, J Eintracht, H Sarkar, BP Brooks, M Moosajee, Genomics England Research Consortium
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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis