Publicacións en colaboración con investigadores/as de Universidade da Coruña (110)

2024

  1. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies

    Genes, Vol. 15, Núm. 6

  2. Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. Response

    Revista Espanola de Cardiologia

  3. Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy

    Revista Espanola de Cardiologia, Vol. 77, Núm. 4, pp. 347-349

  4. Emerging Themes in Genetics of Hypertrophic Cardiomyopathy: Current Status and Clinical Application

    Canadian Journal of Cardiology

  5. Non-invasive imaging techniques in transcatheter aortic valve implantation

    Cirugia Cardiovascular

2023

  1. A cardiotoxicity dataset for breast cancer patients

    Scientific Data

  2. Giant ascending aortic aneurysm with impending rupture as presentation of cutis laxa 1B: a case report

    European Heart Journal - Case Reports, Vol. 7, Núm. 11

  3. Impact of SARS-CoV-2 infection in patients with cardiac amyloidosis: Results of a multicentre registry

    Medicina Clinica, Vol. 161, Núm. 11, pp. 476-482

  4. Lamin A/C Ablation Restricted to Vascular Smooth Muscle Cells, Cardiomyocytes, and Cardiac Fibroblasts Causes Cardiac and Vascular Dysfunction

    International Journal of Molecular Sciences, Vol. 24, Núm. 13

  5. Ventricular Electrograms Duration Map to Detect Ventricular Arrhythmia Substrate: the VEDUM Project Study

    Circulation. Arrhythmia and electrophysiology, Vol. 16, Núm. 8, pp. 447-455

  6. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

    Circulation Research, Vol. 133, Núm. 2, pp. 108-119

2022

  1. A red flag before patent foramen ovale closure: recognizing the incomplete cor triatriatum dexter

    International Journal of Cardiovascular Imaging, Vol. 38, Núm. 1, pp. 113-115

  2. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 49-61

  3. 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

  4. Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant

    Revista Espanola de Cardiologia, Vol. 75, Núm. 3, pp. 242-250

  5. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

  2. An unusual presentation of prosthetic valve endocarditis: Utility of 3D transillumination rendering

    Echocardiography, Vol. 38, Núm. 1, pp. 144-146

  3. Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure

    JAMA Cardiology, Vol. 6, Núm. 8, pp. 891-901

  4. Author's reply: Prognostic implication of exercise echocardiography in patients with hypertrophic cardiomyopathy, by Teruhiko Imamura

    Journal of Cardiology