Els De Vriendt

Long-read genome sequencing resolves complex structural variants in exome-negative developmental and epileptic encephalopathy

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.

Kv7.2 Loss-of-Function Causes Early Hyperexcitability and Network Remodeling

This study shows that KCNQ2 loss-of-function causes early hyperexcitability and network remodeling in human neurons, with biphasic changes in function, gene expression, and structure.

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

This study identifies biallelic COX18 variants as a cause of autosomal recessive axonal CMT with peripheral neuropathy and potential central nervous system involvement.

Efficient and accurate prime editing strategy to correct genetic alterations in hiPSC using single EF-1alpha driven all-in-one plasmids

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.