Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (96)

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. 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

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

    PLoS ONE, Vol. 17, Núm. 3 March

2021

  1. 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

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

2019

  1. A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death

    Revista Espanola de Cardiologia, Vol. 72, Núm. 8, pp. 681-683

  2. Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths

    Forensic Science International: Genetics, Vol. 42, pp. 203-212

  3. 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. Research update for articles published in EJCI in 2016

    European Journal of Clinical Investigation, Vol. 48, Núm. 10

  2. Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses

    Forensic Science International, Vol. 293, pp. 70-76

2017

  1. ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy

    Basic and Clinical Pharmacology and Toxicology, Vol. 120, Núm. 5, pp. 466-474

  2. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

  3. The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study

    Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9

2016

  1. PRKG1 and genetic diagnosis of early-onset thoracic aortic disease

    European Journal of Clinical Investigation, Vol. 46, Núm. 9, pp. 787-794

  2. The relationship between surname frequency and Y chromosome variation in Spain

    European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 120-128

2015

  1. Broad-based molecular autopsy: A potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood

    Archives of Disease in Childhood, Vol. 100, Núm. 10, pp. 952-956

  2. Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young

    Forensic Science International: Genetics, Vol. 18, pp. 160-170