Anne O’Donnell‐Luria

'Somebody to find an answer, so I can sleep at night': Diverse Perspectives on Genomic Research for Rare Disease

Purpose: Rare disease genomic research suffers from the underrepresentation of minoritized populations. We therefore sought to elucidate equitable strategies for participant engagement in rare disease genomic research. Methods: Eligible participants had previously applied to the...

A Recurrent 3′ UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non‐Coding Variants in Limb‐Girdle Muscular Dystrophies

Objective A substantial proportion of individuals with suspected genetic conditions, including neuromuscular disorders, lack a definitive molecular diagnosis. Non‐coding variants, particularly those in the 3′ untranslated region (3´UTR), which regulate mRNA stability, translation...

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

Abstract 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 p...