Publicacións en colaboración con investigadores/as de Universitat de Barcelona (10)

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. 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

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

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

2017

  1. Medico-legal perspectives on sudden cardiac death in young athletes

    International Journal of Legal Medicine, Vol. 131, Núm. 2, pp. 393-409

2015

  1. Genetic analysis of arrhythmogenic diseases in the era of NGS: The complexity of clinical decision-making in Brugada Syndrome

    PLoS ONE, Vol. 10, Núm. 7

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

2007

  1. Novel high-throughput SNP genotyping cosegregation analysis for genetic diagnosis of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis

    Human Mutation, Vol. 28, Núm. 5, pp. 511-516