Martina Manzoni - Publications

Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.

Journal: Human mutation

Published: July 08, 2025

Unraveling the Genetic Heartbeat: Decoding Cardiac Involvement in Duchenne Muscular Dystrophy.

Journal: Biomedicines

Published: December 04, 2024

Role of advanced CMR features in identifying a positive genotype of hypertrophic cardiomyopathy.

Journal: International journal of cardiology

Published: June 06, 2024

Psychosocial resources and psychopathology among persons with neuromuscular disorders during the COVID-19 pandemic.

Journal: BMC psychology

Published: November 06, 2023

Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: June 27, 2023

Reduction of Cardiac Fibrosis by Interference With YAP-Dependent Transactivation.

Journal: Circulation research

Published: June 30, 2022

Whole-Blood Transcriptional Profiles Enable Early Prediction of the Presence of Coronary Atherosclerosis and High-Risk Plaque Features at Coronary CT Angiography.

Journal: Biomedicines

Published: March 31, 2022

Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 09, 2014