Laura Canafoglia

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.

This study uses cerebral organoids to show that EPM1 mutations disrupt neural cell fate specification through intrinsic and extrinsic mechanisms involving EVs and SHH signaling.

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

The paper investigates how extracellular vesicles (EVs) mediate developmental cues during brain development and disease, finding altered EV composition and function in neurodevelopmental disorders.