Publicacións en colaboración con investigadores/as de Instituto de Salud Carlos III (13)

2024

  1. 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. 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

  3. 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

  4. 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. Gaucher disease

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

2014

  1. Involvement of LCA5 in leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    Ophthalmology, Vol. 121, Núm. 1, pp. 399-407

2008

  1. Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

    British Journal of Ophthalmology, Vol. 92, Núm. 10, pp. 1419-1423