Caterina Micolonghi | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Re-analysis of Next-generation Sequencing Data in Patients with Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort	ANNALS OF LABORATORY MEDICINE	2024
Unveiling the spectrum of minor genes in cardiomyopathies: a narrative review	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2024
A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy	CURRENT ISSUES IN MOLECULAR BIOLOGY	2023
Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?	FRONTIERS IN CARDIOVASCULAR MEDICINE	2023
The role of genetic testing in suspected fulminant myocarditis: A case report	MOLECULAR GENETICS AND METABOLISM REPORTS	2023
Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer	DIAGNOSTICS	2022
A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome	DIAGNOSTICS	2022
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?	DIAGNOSTICS	2022