Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Universitat de Girona
Girona, EspañaPublicacións en colaboración con investigadores/as de Universitat de Girona (30)
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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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
2019
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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
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Molecular autopsy in a cohort of infants died suddenly at rest
Forensic Science International: Genetics, Vol. 37, pp. 54-63
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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
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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy
PLoS ONE, Vol. 12, Núm. 8
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Genetic analysis in post-mortem samples with micro-ischemic alterations
Forensic Science International, Vol. 271, pp. 120-125
2016
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Familial dilated cardiomyopathy caused by a novel frameshift in the BAG3 gene
PLoS ONE, Vol. 11, Núm. 7
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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
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Natural and undetermined sudden death: Value of post-mortem genetic investigation
PLoS ONE, Vol. 11, Núm. 12
2015
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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
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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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Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies
Scientific Reports, Vol. 5
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Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))
Seizure
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Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant
Seizure, Vol. 25, pp. 65-67
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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
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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
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Rare titin (TTN) variants in diseases associated with sudden cardiac death
International Journal of Molecular Sciences, Vol. 16, Núm. 10, pp. 25773-25787