Publicacións en colaboración con investigadores/as de Universitat de Girona (11)

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. Downregulated Adipose Tissue Expression of Browning Genes With Increased Environmental Temperatures

    The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 1, pp. e145-e154

  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. Novel genes and sex differences in COVID-19 severity

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

2020

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

    Legal Medicine, Vol. 45

2019

  1. Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation

    Forensic Science International: Genetics, Vol. 43

2018

  1. Low levels of caveolin-1 predict symptomatic bleeding after thrombolytic therapy in patients with acute ischemic stroke

    Stroke, Vol. 49, Núm. 6, pp. 1525-1527

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

2012

  1. Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

    Forensic Science International, Vol. 219, Núm. 1-3, pp. 278-281