Annette Uwineza

A common pathogenic founder variant in Rwandan breast cancer cases

Abstract Germline data from African populations remain sparse, limiting characterization of population-specific BRCA1 /2 pathogenic variants. In a study of 175 Rwandan women with breast cancer, 7 unrelated carriers (4% of cases; 22% of pathogenic variant carriers) harbored the sa...

Trio exome sequencing in patients with global developmental delay and intellectual disability in Rwanda

Intellectual disability (ID) and global developmental delay (GDD) are clinically and genetically heterogeneous conditions characterized by impairments in cognitive, motor, and behavioral functions. Despite advances in genomic medicine, individuals of African ancestry remain signi...