Francesco Mazzarotto
Brescia University(US)
Publications by Year
Research Areas
Cardiomyopathy and Myosin Studies, Congenital heart defects research, Genomics and Rare Diseases, Cardiovascular Function and Risk Factors, Cardiovascular Effects of Exercise
Most-Cited Works
- → Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples(2016)751 cited
- → Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies(2016)581 cited
- → Evidence-Based Assessment of Genes in Dilated Cardiomyopathy(2021)491 cited
- → Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease(2015)489 cited
- → Titin-truncating variants affect heart function in disease cohorts and the general population(2016)361 cited
- → Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect(2021)285 cited
- → Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy(2020)240 cited
- → Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death(2021)131 cited
- → Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy(2019)129 cited
- → Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy(2021)122 cited