Sara Benedetti

Recent Scopus Publications

1. Ciliopathies in Complex Congenital Heart Disease: Molecular Genetics, Embryologic Mechanisms and Clinical Implications
   Genes, 2026
2. Dropped Head Syndrome Unmasking Myotonic Dystrophy Type 1 in a Patient with Parkinson's Disease: A Case Report and a Case-Based Review
   Movement Disorders Clinical Practice, 2026
3. Tetralogy of Fallot: Genetic, Epigenetic and Clinical Insights into a Multifactorial Congenital Heart Disease
   Genes, 2026
4. Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy
   Journal of Molecular and Cellular Cardiology, 2025
5. When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review
   International Journal of Molecular Sciences, 2024

Links

• ORCID https://orcid.org/0000-0003-2826-3040
• Scopus https://www.scopus.com/authid/detail.uri?authorId=55149956100