Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (45)

2024

  1. 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

  2. Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

    Pharmacological Research, Vol. 200

  3. Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies

    Schizophrenia Research, Vol. 268, pp. 293-301

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

    eLife, Vol. 13

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

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

  6. 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

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

    Child Neuropsychology

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

    Psychiatry Research, Vol. 333

2023

  1. (Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer

    International Journal of Cancer, Vol. 153, Núm. 9, pp. 1579-1591

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

    Human Genomics, Vol. 17, Núm. 1

  3. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

  4. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

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

    Nature

  6. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  7. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk (Nature Genetics, (2023), 55, 9, (1435-1439), 10.1038/s41588-023-01466-z)

    Nature Genetics

  8. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  9. Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition

    Schizophrenia Research

  10. Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study

    Radiotherapy and Oncology, Vol. 178

  11. Deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report

    Frontiers in Pharmacology, Vol. 14

  12. 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