Publicacións (18) Publicacións de Diego Alonso García Giustiniani

2023

  1. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

    European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 9, Núm. 1, pp. 42-53

2022

  1. Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach

    Pharmacogenomics Journal, Vol. 22, Núm. 3, pp. 180-187

2021

  1. Clinical utility of genetic testing in patients with dilated cardiomyopathy

    Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495

  2. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

    ESC Heart Failure, Vol. 8, Núm. 1, pp. 95-105

  3. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy

    Journal of Biological Chemistry, Vol. 297, Núm. 1

2020

  1. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

    Heart, Vol. 106, Núm. 17, pp. 1342-1348

  2. Prognostic implications of pathogenic truncating variants in the TTN gene

    International Journal of Cardiology, Vol. 316, pp. 180-183

  3. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

    European Journal of Medical Genetics, Vol. 63, Núm. 12

  4. Verification of underlying genetic cause in a cohort of russian patients with familial hypercholesterolemia using targeted next generation sequencing

    Journal of Cardiovascular Development and Disease, Vol. 7, Núm. 2

2018

  1. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467

  2. Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia

    Circulation, Vol. 137, Núm. 15, pp. 1595-1610

2016

  1. Genetics of dyslipidemia

    Arquivos Brasileiros de Cardiologia, Vol. 106, Núm. 5, pp. 434-438

  2. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

    Journal of the American College of Cardiology, Vol. 68, Núm. 22, pp. 2440-2451

2015

  1. Atlas of the clinical genetics of human dilated cardiomyopathy

    European Heart Journal, Vol. 36, Núm. 18, pp. 1123-1135

  2. Genetics of cardiomyopathies: Novel perspectives with next generation sequencing

    Current Pharmaceutical Design, Vol. 21, Núm. 4, pp. 418-430

  3. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2014

  1. Utilidad del diagnóstico genético en la miocardiopatía hipertrófica de una mujer que desea ser madre: la información es clave

    Revista Espanola de Cardiologia

2011

  1. Genética del síndrome de Marfan

    Cardiocore, Vol. 46, Núm. 3, pp. 101-104