Publicacións (1.212) Publicacións nas que participase algún/ha investigador/a Ver datos de investigación referenciados.

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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. 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

  3. 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

  4. Exploring legal age estimation using DNA methylation

    Forensic Science International: Genetics, Vol. 74

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

    Scientific Reports, Vol. 15, Núm. 1

  6. Inter-platform evaluation of the MPSplex large-scale tri-allelic SNP panel for forensic identification

    Forensic Science International: Genetics, Vol. 77

  7. Performance comparison of a previously validated microhaplotype panel and a forensic STR panel for DNA mixture analysis

    Forensic Science International: Genetics, Vol. 74

  8. 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

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

    Forensic Science International: Genetics

  10. 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

  2. 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

  3. Alterations in pharmacogenetic genes and their implications for imatinib resistance in Chronic Myeloid Leukemia patients from an admixed population

    Cancer Chemotherapy and Pharmacology, Vol. 94, Núm. 3, pp. 387-395

  4. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response

    Journal of Alzheimer's Disease, Vol. 98, Núm. 2, pp. 601-618

  5. 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

  6. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

  7. 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

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

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

  9. Cognitive and clinical predictors of a long-term course in obsessive compulsive disorder: A machine learning approach in a prospective cohort study

    Journal of Affective Disorders, Vol. 350, pp. 648-655

  10. Desafíos de la Medicina personalizada en España: el programa IMPaCT-Genómica

    I+S: Revista de la Sociedad Española de Informática y Salud, Núm. 161, pp. 33-34