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Hendrike Mc Donald

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Articles

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

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By Michal R. Zieff, Emma Eastman, Karen Fieggen, Shahida Moosa, Emily O’Heir, Ikeoluwa Osei-Owusu, Alice Galvin, Anne H. O’Donnell-Luria, Charles Newton, Amina Abubakar, Elise B. Robinson, Kirsten A Donald, Zandrè Bruwer, Hendrike Mc Donald, Brigitte Melly, Rizqa Sulaiman-Bardien, Christina Austin Tse, Celia van der Merwe
| Nature Verified
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 possible genetic diagnosis. Given performance variability across populations and limited data from South Africa, this study assessed clinical utility in South African children with neurodevelopmental disorders (NDDs).
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