Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Publicacións nas que colabora con María José Brión Martínez (107)
2024
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome
PLoS ONE, Vol. 17, Núm. 3 March
2021
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Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy
Forensic Science International: Genetics, Vol. 52
2020
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Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
Legal Medicine, Vol. 45
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Polygenic risk score as a key factor in cardiovascular clinical prediction models
Revista Espanola de Cardiologia, Vol. 73, Núm. 8, pp. 608-610
2019
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A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death
Revista Espanola de Cardiologia, Vol. 72, Núm. 8, pp. 681-683
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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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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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Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses
Forensic Science International, Vol. 293, pp. 70-76
2017
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ABCC3 Polymorphisms and mRNA Expression Influence the Concentration of a Carboxylic Acid Metabolite in Patients on Clopidogrel and Aspirin Therapy
Basic and Clinical Pharmacology and Toxicology, Vol. 120, Núm. 5, pp. 466-474
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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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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
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The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study
Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9
2016
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PRKG1 and genetic diagnosis of early-onset thoracic aortic disease
European Journal of Clinical Investigation, Vol. 46, Núm. 9, pp. 787-794
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The relationship between surname frequency and Y chromosome variation in Spain
European Journal of Human Genetics, Vol. 24, Núm. 1, pp. 120-128
2015
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Association between SNPs of metalloproteinases and prostaglandin f2α receptor genes and latanoprost response in open-angle glaucoma
Ophthalmology, Vol. 122, Núm. 5, pp. 1040-1048.e4
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Broad-based molecular autopsy: A potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood
Archives of Disease in Childhood, Vol. 100, Núm. 10, pp. 952-956