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Francesco Mazzarotto
Francesco Mazzarotto
University of Brescia - Imperial College London
Verifierad e-postadress på unibs.it - Startsida
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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
R Walsh, KL Thomson, JS Ware, BH Funke, J Woodley, KJ McGuire, ...
Genetics in Medicine 19 (2), 192-203, 2017
6692017
Shared genetic predisposition in peripartum and dilated cardiomyopathies
JS Ware, J Li, E Mazaika, CM Yasso, T DeSouza, TP Cappola, EJ Tsai, ...
New England Journal of Medicine 374 (3), 233-241, 2016
4662016
Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
AM Roberts, JS Ware, DS Herman, S Schafer, J Baksi, AG Bick, ...
Science translational medicine 7 (270), 270ra6-270ra6, 2015
4452015
Titin-truncating variants affect heart function in disease cohorts and the general population
S Schafer, A De Marvao, E Adami, LR Fiedler, B Ng, E Khin, ...
Nature genetics 49 (1), 46-53, 2017
2892017
Evidence-based assessment of genes in dilated cardiomyopathy
E Jordan, L Peterson, T Ai, B Asatryan, L Bronicki, E Brown, R Celeghin, ...
Circulation 144 (1), 7-19, 2021
2662021
Reevaluating the genetic contribution of monogenic dilated cardiomyopathy
F Mazzarotto, U Tayal, RJ Buchan, W Midwinter, A Wilk, N Whiffin, ...
Circulation 141 (5), 387-398, 2020
1822020
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect
R Tadros, C Francis, X Xu, AMC Vermeer, AR Harper, R Huurman, ...
Nature genetics 53 (2), 128-134, 2021
1732021
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy
R Walsh, F Mazzarotto, N Whiffin, R Buchan, W Midwinter, A Wilk, N Li, ...
Genome medicine 11, 1-18, 2019
1142019
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death
R Walsh, A Adler, AS Amin, E Abiusi, M Care, H Bikker, S Amenta, ...
European heart journal 43 (15), 1500-1510, 2022
702022
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
F Mazzarotto, MH Hawley, M Beltrami, L Beekman, A De Marvao, ...
Genetics in Medicine 23 (5), 856-864, 2021
682021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
R Walsh, N Lahrouchi, R Tadros, F Kyndt, C Glinge, PG Postema, ...
Genetics in medicine 23 (1), 47-58, 2021
652021
Comparison of long‐term outcome in anthracycline‐related versus idiopathic dilated cardiomyopathy: a single centre experience
A Fornaro, I Olivotto, L Rigacci, M Ciaccheri, B Tomberli, C Ferrantini, ...
European Journal of Heart Failure 20 (5), 898-906, 2018
652018
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
F Mazzarotto, F Girolami, B Boschi, F Barlocco, A Tomberli, K Baldini, ...
Genetics in Medicine 21 (2), 284-292, 2019
612019
Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?
F Mazzarotto, I Olivotto, B Boschi, F Girolami, C Poggesi, PJR Barton, ...
Journal of the American Heart Association 9 (8), e015473, 2020
602020
Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy
A de Marvao, KA McGurk, SL Zheng, M Thanaj, W Bai, J Duan, C Biffi, ...
Journal of the American College of Cardiology 78 (11), 1097-1110, 2021
572021
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy
AS Helms, AD Thompson, AA Glazier, N Hafeez, S Kabani, J Rodriguez, ...
Circulation: Genomic and Precision Medicine 13 (5), 396-405, 2020
522020
Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the international sarcomeric human cardiomyopathy registry
M Canepa, C Fumagalli, G Tini, J Vincent-Tompkins, SM Day, EA Ashley, ...
Circulation: Heart Failure 13 (9), e007230, 2020
522020
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
X Zhang, R Walsh, N Whiffin, R Buchan, W Midwinter, A Wilk, R Govind, ...
Genetics in Medicine 23 (1), 69-79, 2021
402021
A machine learning-based risk stratification model for ventricular tachycardia and heart failure in hypertrophic cardiomyopathy
T Smole, B Žunkovič, M Pičulin, E Kokalj, M Robnik-Šikonja, M Kukar, ...
Computers in biology and medicine 135, 104648, 2021
382021
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
C Horvat, R Johnson, L Lam, J Munro, F Mazzarotto, AM Roberts, ...
Genetics in Medicine 21 (1), 133-143, 2019
342019
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Artiklar 1–20