Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Catholic University of the Sacred Heart
Milán, ItaliaPublicacións en colaboración con investigadores/as de Catholic University of the Sacred Heart (36)
2022
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
2020
2019
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications, Vol. 10, Núm. 1
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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
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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
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Genetic susceptibility in pharmacodynamic and pharmacokinetic pathways underlying drug-induced arrhythmia and sudden unexplained deaths
Forensic Science International: Genetics, Vol. 42, pp. 203-212
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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
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Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
2017
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Medico-legal perspectives on sudden cardiac death in young athletes
International Journal of Legal Medicine, Vol. 131, Núm. 2, pp. 393-409
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Micro and macro geographical analysis of Y-chromosome lineages in South Iberia
Forensic Science International: Genetics, Vol. 29, pp. e9-e15
2016
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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
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Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy
Clinical Research in Cardiology, Vol. 104, Núm. 4, pp. 288-303
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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
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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
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Negative autopsy and sudden cardiac death
International Journal of Legal Medicine, Vol. 128, Núm. 4, pp. 599-606
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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
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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
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Patterns of Y-STR variation in Italy
Forensic Science International: Genetics
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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
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Uniparental Markers of Contemporary Italian Population Reveals Details on Its Pre-Roman Heritage
PLoS ONE, Vol. 7, Núm. 12