Publicacións (1.070) Publicacións de ANGEL MARIA CARRACEDO ALVAREZ Ver datos de investigación referenciados.

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2026

  1. A New Patient With SPOUT1-Related Neurodevelopmental Disorder Identified by Genomic Data Re-Analysis: Novel Phenotypic Features and Literature Review

    American Journal of Medical Genetics, Part A

  2. A systematic review on the association between executive function and emotional regulation in autism, ADHD, and autism/ADHD

    Neuroscience and Biobehavioral Reviews, Vol. 183

  3. Are There Causal Associations Between Obsessive-Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi-Directional Mendelian Randomization Study

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 201, Núm. 5, pp. 321-330

  4. Clock gene influences on sleep quality and HPA axis in major depressive disorder

    Sleep Medicine, Vol. 139

  5. Corrigendum to “Predicting autistic traits, anxiety and depression symptoms using camouflaging autistic traits questionnaire (CAT-Q-ES): A machine learning study” [Research in Autism 128 (2025) 202712] (Research in Autism (2025) 128, (S3050656525001841), (10.1016/j.reia.2025.202712))

    Research in Autism

  6. Deleterious coding variation associated with autism is shared across ancestries

    Nature Medicine, Vol. 32, Núm. 4, pp. 1519-1529

  7. Descriptive transcriptomic profiling differentiates oral leukoplakia from proliferative verrucous leukoplakia and reveals distinct molecular signatures

    Medicina oral, patologia oral y cirugia bucal, Vol. 31, Núm. 2, pp. e166-e173

  8. Insights Into Hereditary Alpha-Tryptasemia From a Genome-Wide Association Study in Hymenoptera Venom Anaphylaxis

    Clinical and Experimental Allergy

  9. Linking prolonged childhood and adolescent loneliness to schizophrenia spectrum disorders: results from EU-GEI study

    British Journal of Psychiatry, Vol. 228, Núm. 5, pp. 428-436

  10. Splicing Predictions, Splicing Assays, and Variant Classification Using ACMG/AMP Guidelines: Challenges Observed with BRCA1 and BRCA2 Variants

    Clinical Chemistry

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

    European Journal of Human Genetics, Vol. 34, Núm. 2, pp. 270-277

  12. The association between autism, camouflaging and anxiety with suicidal ideation in women

    Frontiers in Psychology, Vol. 16

  13. Vicarious Perception of Touch in ASD: The Role of Empathy and Touch Experiences

    Autism Research

2025

  1. A Lack of Complete Linkage Disequilibrium Between c.1236G>A and c.1129-5923C>G HapB3 Variants of DPYD: A Call to Revise European Pharmacogenetic Guidelines

    International Journal of Molecular Sciences, Vol. 26, Núm. 17

  2. A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC

    European Journal of Human Genetics, Vol. 33, Núm. 7, pp. 960-965

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

    Clinical Genetics

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

    Scientific Reports, Vol. 15, Núm. 1

  5. António Amorim (in memoriam)

    Forensic Science International: Genetics

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

    Frontiers in Pharmacology, Vol. 16

  7. Biomarkers

    Alzheimer's & dementia : the journal of the Alzheimer's Association, Vol. 21, pp. e104759