Francesco Mazzarotto

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Roddy Walsh, Kate Thomson, James S. Ware et al. · Genetics in Medicine · 2016 · 744 citations · Full text

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

James S. Ware, Jian Li, Erica Mazaika et al. · New England Journal of Medicine · 2016 · 577 citations · Full text

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Angharad M. Roberts, James S. Ware, Daniel S. Herman et al. · Science Translational Medicine · 2015 · 489 citations

Cardiac Muscle, Heart Failure, Cardiac Effects +20

Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

Elizabeth Jordan, Laiken Peterson, Tomohiko Ai et al. · Circulation · 2021 · 484 citations · Full text

Titin-truncating variants affect heart function in disease cohorts and the general population

Sebastian Schäfer, Antonio de Marvao, Eleonora Adami et al. · Nature Genetics · 2016 · 357 citations · Full text

Cardiomyopathy, Cardiovascular Disease, Disease Cohorts +8