Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (17)

2024

  1. Corrigendum: Assessment of mesenchymal stem/stromal cell-based therapy in K/BxN serum transfer-induced arthritis (Frontiers in Immunology, (2022), 13, (943293), 10.3389/fimmu.2022.943293)

    Frontiers in Immunology

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  3. PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review

    Biomedicines, Vol. 12, Núm. 8

  4. Role of CYP2D6 and CYP3A4 polymorphisms on aripiprazole and dehydroaripiprazole concentrations in patients undergoing long-acting treatment

    Progress in Neuro-Psychopharmacology and Biological Psychiatry, Vol. 135

  5. Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling

    Psychiatry Research, Vol. 333

2023

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

    Nature

  2. Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

    Journal of Clinical Medicine, Vol. 12, Núm. 7

  3. 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

  4. Influence of Genetic Polymorphisms on the Short-Term Response to Ranibizumab in Patients With Neovascular Age-Related Macular Degeneration

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 34

2022

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

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

2019

  1. BDNF genetic variants and methylation: effects on cognition in major depressive disorder

    Translational Psychiatry, Vol. 9, Núm. 1

  2. Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach

    Translational Psychiatry, Vol. 9, Núm. 1

  3. 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

  1. FKBP5 polymorphisms and hypothalamic-pituitary-adrenal axis negative feedback in major depression and obsessive-compulsive disorder

    Journal of Psychiatric Research, Vol. 104, pp. 227-234

2016

  1. Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

    Translational Psychiatry, Vol. 6, Núm. 3

2013

  1. XProgrammed cell senescence during mammalian embryonic development

    Cell, Vol. 155, Núm. 5, pp. 1104

2010

  1. LARGE-SCALE MUTATION SCREENING IN SUDDEN CARDIAC DEATH (SCD)

    ACTA MEDICINAE LEGALIS ET SOCIALIS (UNIV COIMBRA), pp. 211-217