Fundación Pública Galega de Medicina Xenómica
Research center
Hospital Universitari de Girona Dr. Josep Trueta
Girona, EspañaPublications in collaboration with researchers from Hospital Universitari de Girona Dr. Josep Trueta (26)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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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
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Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis
HemaSphere, Vol. 7, Núm. 1, pp. E818
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
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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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
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Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies
Scientific Reports, Vol. 6
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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Rare titin (TTN) variants in diseases associated with sudden cardiac death
International Journal of Molecular Sciences, Vol. 16, Núm. 10, pp. 25773-25787