Elena Parrini

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 functionally characterizes RELN missense mutations in both recessive and dominant neuronal migration disorders, showing a genotype-phenotype correlation.

The paper evaluates how DNA fragment length and enrichment technology affect genotypability in whole-exome sequencing, finding that longer fragments improve callable bases and genotypability across different platforms.