Mariam A. Alharbi

Expert rules versus machine learning for lysosomal storage disorder identification: a comparative analysis using clinical data

Abstract Early diagnosis of rare lysosomal storage disorders, such as Gaucher disease (GD), acid sphingomyelinase deficiency (ASMD), and Saposin C deficiency, is critical but often delayed. Electronic health records (EHRs) provide opportunities for screening, but class imbalance...

Individualized statin associated type 2 diabetes risk estimation with a deep causal model

Statin therapy reduces cardiovascular risk, but recorded statin exposure is associated with subsequent type 2 diabetes (T2D) in some populations. Individualized risk estimation and separation of low-density lipoprotein cholesterol (LDL-C)-mediated from non-LDL components remain c...