Malin H. L. Andersson

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

This paper describes a 14-day protocol to differentiate human iPSCs into cortical neural stem cells, validated through RNA-Seq and immunocytochemistry.

The paper investigates KPTN-related disorder using mouse and human stem cell models, identifying mTOR pathway dysregulation as a key mechanism underlying cognitive and overgrowth phenotypes.

The paper uses single-cell RNA sequencing to study genetic variant effects on dopaminergic neuron differentiation from iPSCs, identifying eQTL and cell fate markers.