Publicacións en colaboración con investigadores/as de Hospital Universitario Virgen de las Nieves (14)

2024

  1. Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study

    American Journal of Kidney Diseases

2023

  1. A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 120

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. 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

  2. Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

    Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224

2020

  1. Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

    Journal of the American College of Cardiology, Vol. 75, Núm. 15, pp. 1772-1784

2019

  1. Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family

    Revista Espanola de Cardiologia, Vol. 72, Núm. 4, pp. 324-332

  2. Genetic Mosaicism in Calmodulinopathy

    Circulation: Genomic and Precision Medicine, Vol. 12, Núm. 9, pp. 375-385

  3. Two Novel Cases of Autosomal Recessive Noonan Syndrome Associated With LZTR1 Variants

    Revista Espanola de Cardiologia

2018

  1. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2471-2481

  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

2017

  1. Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

    Journal of Translational Medicine, Vol. 15, Núm. 1

2016

  1. 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. Colorectal cancer classification and cell heterogeneity: A systems oncology approach

    International Journal of Molecular Sciences, Vol. 16, Núm. 6, pp. 13610-13632