Christina Hung

This study evaluates FUS-BBBO for delivering LNP-packaged modRNA to the cerebellum in NPC mice, finding BBB opening but no detectable protein expression or therapeutic benefit.

This study identifies metabolomic and transcriptomic signatures in Kabuki syndrome patients, revealing altered metabolites and pathways that could serve as biomarkers for early detection.

The paper assesses the clinical validity of 56 genes associated with lysosomal diseases using the ClinGen framework, identifying key themes and challenges in their evaluation.

This study examines how KMT2D mutations affect histone modifications and gene expression in PBMCs from KS patients, identifying altered enhancer activity and transcriptional changes linked to immune and metabolic gene dysregulation.