A girl with photosensitivity and hepatic steatosis. J Pediatr 2014;165(1):201-201.e1.
. A neonate with a 'milky' blood. What can it be?. Arch Dis Child Fetal Neonatal Ed 2014;99(6):F514.
. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
. . . Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. Clin Immunol 2015;159(1):33-6.
. "Blaschkoid dyspigmentation" in a child: don't forget fibroblast chromosomal analysis. J Pediatr 2015;166(2):490-90.e1.
. A brain and heart connection: X-linked periventricular heterotopia. J Pediatr 2015;166(3):776.
. Genetic analysis of Italian patients with congenital tufting enteropathy. World J Pediatr 2015;
. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. Mutat Res 2015;781:32-6.
. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. Mol Med Rep 2015;12(4):6128-32.
. A Case of Prenatal Neurocytoma Associated With ATR-16 Syndrome. J Ultrasound Med 2016;35(6):1359-61.
.