Publicacións (1.032) Publicacións de ANGEL MARIA CARRACEDO ALVAREZ

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2025

  1. AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities

    Clinical Genetics

  2. Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization

    Scientific Reports, Vol. 15, Núm. 1

  3. António Amorim (in memoriam)

    Forensic Science International: Genetics

  4. Balance of care activity after EMA recommendation for DPYD gene testing in Galicia

    Frontiers in Pharmacology, Vol. 16

  5. Challenges of genetics in the diagnosis of sudden cardiac death. Interest for forensic and legal medicine

    Medicina Clinica, Vol. 164, Núm. 3, pp. e1-e7

  6. Contribution of autosomal rare and de novo variants to sex differences in autism

    American Journal of Human Genetics, Vol. 112, Núm. 3, pp. 599-614

  7. Forensic Science International: Genetics: Past, present, and future of the journal and the field

    Forensic Science International: Genetics

  8. Genetic and epigenetic changes to the glucocorticoid receptor gene (NR3C1) and cognition in major depressive disorder

    Spanish Journal of Psychiatry and Mental Health

  9. Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations

    Scientific Reports, Vol. 15, Núm. 1

  10. Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis

    Neuropsychology Review, Vol. 35, Núm. 1, pp. 153-176

  11. Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis

    Neuropsychology Review, Vol. 35, Núm. 1, pp. 153-176

  12. Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO

    Functional and Integrative Genomics, Vol. 25, Núm. 1

  13. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

    Nature Genetics

  14. Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

    Biomedicines, Vol. 13, Núm. 3

  15. Prediction of pharmacological response in OCD using machine learning techniques and clinical and neuropsychological variables

    Spanish Journal of Psychiatry and Mental Health, Vol. 18, Núm. 1, pp. 51-57

  16. Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

    Communications biology, Vol. 8, Núm. 1, pp. 33

  17. The ReAct project: Bayesian networks for assessing the value of the results given activity level propositions

    Forensic Science International: Genetics

  18. The Spanish Polygenic Score reference distribution: a resource for personalized medicine

    European Journal of Human Genetics

  19. The multi-omics signatures of telomere length in childhood

    BMC Genomics, Vol. 26, Núm. 1

2024

  1. A genome-wide association meta-analysis of all-cause and vascular dementia

    Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995