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

2023

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

    Nature

2022

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

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

2021

  1. BMP8 and activated brown adipose tissue in human newborns

    Nature Communications, Vol. 12, Núm. 1

  2. Ventricular Repolarization Parameters and Coronary Involvement in Kawasaki Disease

    Journal of Pediatrics, Vol. 236, pp. 108-112.e5

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

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

  2. Screening of repetitive motifs inside the genome of the flat oyster (Ostrea edulis): Transposable elements and short tandem repeats

    Marine Genomics, Vol. 24, pp. 335-341

2014

  1. Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications

    International Journal of Legal Medicine, Vol. 129, Núm. 1

2012

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

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