Noor Smal

This study evaluates the diagnostic value of long-read genome sequencing in DEE patients, finding it particularly effective for resolving complex structural variants not detected by short-read sequencing.

The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.

This study develops and tests novel all-in-one plasmids for prime editing in hiPSC, achieving up to 50% edit efficiency with reduced off-target effects.