Publicacións en colaboración con investigadores/as de Hospital Universitari de Girona Dr. Josep Trueta (26)

2023

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

    Nature

  2. Genomics improves risk stratifi cation of adults with T-cell acute lymphoblastic leukemia enrolled in measurable residual disease-oriented trials

    Haematologica, Vol. 108, Núm. 4, pp. 969-980

  3. Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis

    HemaSphere, Vol. 7, Núm. 1, pp. E818

2022

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

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

2021

  1. Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

    Cell Reports Medicine, Vol. 2, Núm. 4

2020

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

    Legal Medicine, Vol. 45

2018

  1. Molecular autopsy in a cohort of infants died suddenly at rest

    Forensic Science International: Genetics, Vol. 37, pp. 54-63

  2. Role of copy number variants in sudden cardiac death and related diseases: Genetic analysis and translation into clinical practice

    European Journal of Human Genetics, Vol. 26, Núm. 7, pp. 1014-1025

2017

  1. Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

    PLoS ONE, Vol. 12, Núm. 8

  2. Genetic analysis in post-mortem samples with micro-ischemic alterations

    Forensic Science International, Vol. 271, pp. 120-125

2016

  1. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

    International Journal of Legal Medicine, Vol. 130, Núm. 2, pp. 331-339

  2. Natural and undetermined sudden death: Value of post-mortem genetic investigation

    PLoS ONE, Vol. 11, Núm. 12

  3. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

    Scientific Reports, Vol. 6

2015

  1. Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia

    Heart Rhythm, Vol. 12, Núm. 7, pp. 1636-1643

  2. Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

    Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303

  3. Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

    Scientific Reports, Vol. 5

  4. Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))

    Seizure

  5. Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant

    Seizure, Vol. 25, pp. 65-67

  6. Rare titin (TTN) variants in diseases associated with sudden cardiac death

    International Journal of Molecular Sciences, Vol. 16, Núm. 10, pp. 25773-25787

2014

  1. Identification of genetic alterations, as causative genetic defects in long QT syndrome, using next generation sequencing technology

    PLoS ONE, Vol. 9, Núm. 12