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Arquivos Brasileiros De Cardiologia|October 1, 2024
Polygenic Risk Scores: The Next Step for Improved Risk Stratification in Coronary Artery Disease?Ricardo Stein, Filipe Ferrari, Diego García-Giustiniani
Journal of Cardiovascular Development and Disease|May 20, 2020
Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation SequencingAnna E Semenova, Igor V Sergienko, Diego García-Giustiniani, et al.
Circulation|December 8, 2017
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/DysplasiaFrancisco José Bermúdez-Jiménez, Víctor Carriel, Andreas Brodehl, et al.
Heart (British Cardiac Society)|May 4, 2015
Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chainDiego García-Giustiniani, Michael Arad, Martín Ortíz-Genga, et al.
The Pharmacogenomics Journal|April 1, 2022
Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approachLuis Ramudo-Cela, Sara Santana-Martínez, Maite García-Ramos, et al.
European Journal of Medical Genetics|October 9, 2020
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individualsJoel Salazar-Mendiguchía, Roberto Barriales-Villa, Luis R Lopes, et al.
The Journal of Biological Chemistry|June 7, 2021
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathyCarmen Suay-Corredera, Maria Rosaria Pricolo, Elías Herrero-Galán, et al.
Heart (British Cardiac Society)|May 27, 2020
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathyJoel Salazar-Mendiguchía, Juan Pablo Ochoa, Julian Palomino-Doza, et al.
Journal of the American College of Cardiology|December 3, 2016
Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic CardiomyopathiesMartín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, et al.
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