Publicacións en colaboración con investigadores/as de Catholic University of the Sacred Heart (36)

2022

  1. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

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. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  2. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  3. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430

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

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

  5. Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)

    Nature Communications

  6. Shared heritability and functional enrichment across six solid cancers

    Nature Communications, Vol. 10, Núm. 1

2017

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

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

  2. Micro and macro geographical analysis of Y-chromosome lineages in South Iberia

    Forensic Science International: Genetics, Vol. 29, pp. e9-e15

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

2015

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

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

  2. Forensic ancestry analysis with two capillary electrophoresis ancestry informative marker (AIM) panels: Results of a collaborative EDNAP exercise

    Forensic Science International: Genetics, Vol. 19, pp. 56-67

  3. Genetic analysis, in silico prediction, and family segregation in long QT syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85

2014

  1. Negative autopsy and sudden cardiac death

    International Journal of Legal Medicine, Vol. 128, Núm. 4, pp. 599-606

  2. 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

  3. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144

2012

  1. Patterns of Y-STR variation in Italy

    Forensic Science International: Genetics

  2. The peopling of Europe and the cautionary tale of Y chromosome lineage R-M269

    Proceedings of the Royal Society B: Biological Sciences, Vol. 279, Núm. 1730, pp. 884-892

  3. Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage

    PLoS ONE, Vol. 7, Núm. 12