- Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome (2022) Italian Journal of Pediatrics, 48 (1), art. no. 170, .
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis (2022) Italian Journal of Pediatrics, 48 (1), art. no. 145, .
- Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas (2022) Italian Journal of Pediatrics, 48 (1), art. no. 140, .
- Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder (2022) Italian Journal of Pediatrics, 48 (1), art. no. 132, .
- Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 133, .
- Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene (2022) Italian Journal of Pediatrics, 48 (1), art. no. 65, .
- Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles (2022) Italian Journal of Pediatrics, 48 (1), art. no. 38, .
- Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report (2022) Italian Journal of Pediatrics, 48 (1), art. no. 19, .
- Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit (2022) Frontiers in Molecular Biosciences, 9, art. no. 887336, .
- Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review (2022) Molecular Genetics and Genomic Medicine, 10 (5), art. no. e1911, .
- Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis (2022) Journal of Medical Genetics, 59 (2), pp. 170-179.
- A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2022) Journal of Paediatrics and Child Health, .
- Clinical and genetic approach in the characterization of newborns with anorectal malformation (2022) Journal of Maternal-Fetal and Neonatal Medicine, 35 (23), pp. 4513-4520.
- Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up (2021) Italian Journal of Pediatrics, 47 (1), art. no. 196, .
- Jacobsen syndrome and neonatal bleeding: report on two unrelated patients (2021) Italian Journal of Pediatrics, 47 (1), art. no. 147, .
- Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations (2021) Italian Journal of Pediatrics, 47 (1), art. no. 94, .
- 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype (2021) Clinical Case Reports, 9 (6), art. no. e04289, .
- Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome (2020) Italian Journal of Pediatrics, 46 (1), art. no. 154, .
- A novel cct5 missense variant associated with early onset motor neuropathy (2020) International Journal of Molecular Sciences, 21 (20), art. no. 7631, pp. 1-12.
- Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient (2020) Italian Journal of Pediatrics, 46 (1), art. no. 140, .
- Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation (2020) Italian Journal of Pediatrics, 46 (1), art. no. 136, .
- Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report (2020) Italian Journal of Pediatrics, 46 (1), art. no. 135, .
- What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs. (2020) Italian Journal of Pediatrics, 46 (1), art. no. 98, .
- A refugee newborn with heart failure and initial hydrops: Diagnostic clues of spectral Doppler examinations (2020) Journal of Paediatrics and Child Health, 56 (8), p. 1315.
- Growth patterns and associated risk factors of congenital malformations in twins (2020) Italian Journal of Pediatrics, 46 (1), art. no. 73, .
- Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital (2020) Italian Journal of Pediatrics, 46 (1), art. no. 72, .
- Recognizable neonatal clinical features of aplasia cutis congenita (2020) Italian Journal of Pediatrics, 46 (1), art. no. 25, .
- Congenital pelvic skeletal anomalies: Clinical and radiographic evaluation of newborns with gastrointestinal malformation (2020) Early Human Development, 141, art. no. 104945, .
- Large for gestational age, macrosomia, overgrowth: An update on definitions and determinants (2020) EuroMediterranean Biomedical Journal, 15 (29), pp. 116-120.
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