Publicacións en colaboración con investigadores/as de Centro de Investigación en Red en Enfermedades Cardiovasculares (7)

2022

  1. 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

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. Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene

    Revista Espanola de Cardiologia, Vol. 74, Núm. 11, pp. 987-989

  3. Mitral valve prolapse morphofunctional features by cardiovascular magnetic resonance: more than just a valvular disease

    Journal of Cardiovascular Magnetic Resonance, Vol. 23, Núm. 1

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

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

  5. Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases

    Revista Espanola de Cardiologia, Vol. 74, Núm. 6, pp. 551-553

2020

  1. 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