Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (79)

2025

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

    Clinical Genetics

  2. Hypometabolism and atrophy patterns associated with Niemann-Pick type C

    EJNMMI Research, Vol. 15, Núm. 1

2024

  1. A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci

    Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 431-440

  2. CARTAR: a comprehensive web tool for identifying potential targets in chimeric antigen receptor therapies using TCGA and GTEx data

    Briefings in Bioinformatics, Vol. 25, Núm. 4

  3. Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study

    The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944

  4. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

    Communications biology, Vol. 7, Núm. 1, pp. 202

  5. Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation

    Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338

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

    eLife, Vol. 13

  7. Population-based detection of children ASD/ADHD comorbidity from atypical sensory processing

    Applied Intelligence, Vol. 54, Núm. 20, pp. 9906-9923

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

    Spanish Journal of Psychiatry and Mental Health

  9. 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

  10. Sensory processing, executive function, and behavior in children with ADHD

    Child Neuropsychology

  11. The European Health Data Space can be a boost for research beyond borders

    Nature Medicine

  12. The impact of genetic variations in the serotonergic system on symptom severity and clinical outcome in functional neurological disorders

    Journal of Psychosomatic Research, Vol. 186

  13. The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis

    Metabolism: Clinical and Experimental, Vol. 158

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

    Psychiatry Research, Vol. 333

  15. Unveiling the Significance of HLA and KIR Diversity in Underrepresented Populations

    Biomedicines, Vol. 12, Núm. 6

  16. Utility of polygenic risk scores to aid in the diagnosis of rheumatic diseases

    Best Practice and Research: Clinical Rheumatology, Vol. 38, Núm. 4

  17. Worldwide distribution of genetic factors related to severity of COVID-19 infection

    Annals of Human Biology, Vol. 51, Núm. 1

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1