Author

I. Osei-Owusu

2 papers indexed here

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Open access Sep 2026

Genomic Research as a Critical Pathway to Diagnosis for Individuals with Rare Disease

Many individuals with rare monogenic disease remain molecularly undiagnosed due to challenges accessing genetic testing, ambiguity in interpretation of uncertain variants, and latency between novel disease-gene discovery and adoption into clinical pipelines. The Rare Genomes Project (RGP) provides a remote, research-ba...

A. O'Donnell-Luria, S. DiTroia, Melanie C. O'Leary et al. · medRxiv · 0 citations

Open access Aug 2026

Utility of Face2Gene's DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa.

Face2Gene is a clinical tool that leverages facial features to aid genetic diagnosis. The DeepGestalt application suggests potential diagnoses based on facial similarity, while the D-Score evaluates likelihood of an individual having dysmorphic features suggestive of a possible genetic diagnosis. Given performance vari...

Z. Bruwer, Hendrike Mc Donald, Michal R. Zieff et al. · European Journal of Human Ge... · 0 citations