Publicacións nas que colabora con María José Brión Martínez (31)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. 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

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  2. Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome

    PLoS ONE, Vol. 17, Núm. 3 March

2019

  1. 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

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

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

2018

  1. Sudden unexpected death in the young — Value of massive parallel sequencing in postmortem genetic analyses

    Forensic Science International, Vol. 293, pp. 70-76

2017

  1. 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

2015

  1. 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

  2. Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility

    Journal of Psychiatric Research, Vol. 66-67, pp. 38-44

2014

  1. Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3111-3116

  2. Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

    Clinica Chimica Acta, Vol. 437, pp. 88-92

  3. Y-chromosomal DNA analysis in French male lineages

    Forensic Science International: Genetics, Vol. 9, Núm. 1, pp. 162-168

2012

  1. Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

    Forensic Science International, Vol. 219, Núm. 1-3, pp. 278-281

2011

  1. Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases

    International Journal of Legal Medicine, Vol. 125, Núm. 4, pp. 565-572

2010

  1. A new approach to long QT syndrome mutation detection by Sequenom MassARRAY® system

    Electrophoresis, Vol. 31, Núm. 10, pp. 1648-1655

  2. Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy

    Annals of Clinical and Laboratory Science, Vol. 40, Núm. 3, pp. 285-289

  3. New technologies in the genetic approach to sudden cardiac death in the young

    Forensic Science International, Vol. 203, Núm. 1-3, pp. 15-24

2009

  1. Involvement of hypertrophic cardiomyopathy genes in sudden infant death syndrome (SIDS)

    Forensic Science International: Genetics Supplement Series, Vol. 2, Núm. 1, pp. 495-496

  2. Phylogeography of French male lineages

    Forensic Science International: Genetics Supplement Series, Vol. 2, Núm. 1, pp. 439-441