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Author

N. Dukuze

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Open access Sep 2026

Clinical Utility of Trio Exome Sequencing in Rwandan Children With Autism Spectrum Disorder

This study aimed to characterize rare, clinically relevant genetic variants in a Rwandan pediatric ASD cohort using trio‐based whole‐exome sequencing (WES) using trio‐based whole‐exome sequencing (WES).

Olivier Hakizimana, J. Hitayezu, J. P. Uyisenga et al. · 0 citations
Open access 2026

A Novel Variant of ARID1B-Related CSS in a Rwandan patient: A Case Report

This report describes the first genetically confirmed case of CSS in Rwanda, highlighting the diagnostic utility of advanced molecular genetic testing in children with developmental delay and dysmorphic features and underscores the importance of expanding access to clinical genetic services in resource-limited settings...

Adelaide Urugwiro Horanimpundu, N. Dukuze, Hannah Umutoni Mugaragu et al. · 0 citations

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