Helenius Jurgen Schelhaas

This study identifies a human-specific CHD2 regulatory variant that influences cortical development tempo via lysosomal homeostasis, showing therapeutic potential through lysosomal restoration.

This study investigates SCN1A mutations in excitatory neuronal networks derived from patient hiPSCs, revealing mutation-specific phenotypes that correlate with clinical outcomes and drug responses.

The paper evaluates clinical features, flow cytometry, and facial image analysis to classify GPIBDs and identify gene-specific patterns, finding that facial recognition software is most effective for gene prediction.