Barbara Corneo

The paper identifies mitochondrial dysfunction and cyclin C mislocalization as consistent features of MED13L syndrome, linking them to clinical severity and suggesting potential biomarkers.

The paper develops fluorescent reporters for human somatic sensory neuron subtypes to improve disease modeling of peripheral sensory neuropathy.

This study shows that allelic bias in GINS4 variants contributes to variable clinical and cellular phenotypes in NK cell deficiency.

This study uses patient-derived forebrain organoids to investigate the effects of a CNTNAP2 mutation on cortical development, finding increased cell proliferation and differential gene expression associated with ASD.