Alessia Asaro

Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf‐Hirschhorn syndrome–associated seizures disorder

R. Pfundt, S. Ricciardi, C. Cafiero, 2014, Epilepsia.

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype.

M. Genuardi, F. Gurrieri, Emanuela Ponzi, 2015, European journal of medical genetics.

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

E. Mercuri, L. Massimi, F. Gallini, 2021, Neurological Sciences.

Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome

E. Mercuri, A. Slavotinek, Emanuela Ponzi, 2015, European Journal of Human Genetics.

Diagnostic Yield and Cost-Effectiveness of “Dynamic” Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy

Raffaella Fiamma Cabini, R. Borgatti, E. Valente, 2021, Diagnostics.

Unique Genomic Profile Associated with Pediatric Uveal Melanoma

M. Pagliara, D. Orteschi, G. Petrone, 2015, European Journal of Ophthalmology.