Publicacións (157) Publicacións nas que participase algún/ha investigador/a

2024

  1. Correction in article by Juzga-Corrales et al. “Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)”, Rev Esp Cardiol. 2023;76:961-969 (Revista Española de Cardiología (English Edition) (2024) 77(4) (358–359), (S1885585724000331), (10.1016/j.rec.2023.12.011))

    Revista Espanola de Cardiologia

  2. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)

    Revista Espanola de Cardiologia, Vol. 76, Núm. 12, pp. 961-969

  3. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  4. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation

    European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85

  5. Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

    Frontiers in Medicine, Vol. 10

2022

  1. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  2. Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy

    European Journal of Heart Failure, Vol. 24, Núm. 7, pp. 1183-1196

  3. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  4. Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome

    PLoS ONE, Vol. 17, Núm. 3 March

2021

  1. Association of Genetic Variants With Outcomes in Patients With Nonischemic Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 78, Núm. 17, pp. 1682-1699

  2. Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy

    Forensic Science International: Genetics, Vol. 52

  3. Danon disease

    Revista Colombiana de Cardiologia, Vol. 28, pp. 41-50

  4. Gaucher disease

    Revista Colombiana de Cardiologia, Vol. 28, pp. 30-40

  5. Molecular study of sticky platelet syndrome using exome sequencing

    Revista Facultad de Medicina, Vol. 69, Núm. 3

2020

  1. Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?

    Legal Medicine, Vol. 45

  2. Polygenic risk score as a key factor in cardiovascular clinical prediction models

    Revista Espanola de Cardiologia, Vol. 73, Núm. 8, pp. 608-610

  3. Potential drug-drug interactions in COVID 19 patients in treatment with lopinavir/ritonavir

    Medicina Clinica, Vol. 155, Núm. 7, pp. 281-287

  4. The place of metropolitan France in the European genomic landscape

    Human Genetics, Vol. 139, Núm. 8, pp. 1091-1105