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Lista de obras de Francesco Mazzarotto

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

article

Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy

scientific article published on 01 April 2020

Comparison of long-term outcome in anthracycline-related versus idiopathic dilated cardiomyopathy: a single centre experience

artículo científico publicado en 2017

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?

scientific article published on 18 April 2020

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

artículo científico publicado en 2018

FineSplice, enhanced splice junction detection and quantification: a novel pipeline based on the assessment of diverse RNA-Seq alignment solutions.

scientific article published on 25 February 2014

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

artículo científico publicado en 2015

Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

artículo científico publicado en 2021

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

artículo científico publicado en 2019

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

artículo científico publicado en 2016

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

scientific article published on 27 January 2020

Sex-related differences in exercise performance and outcome of patients with hypertrophic cardiomyopathy

scientific article published on 07 November 2019

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

ZBTB17 ( MIZ1 ) Is Important for the Cardiac Stress Response and a Novel Candidate Gene for Cardiomyopathy and Heart Failure

article

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