Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (40)

2024

  1. Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

    Pharmacological Research, Vol. 200

  2. 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

  13. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

    American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206

  14. 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

  15. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

    European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587

  16. Influence of Genetic Polymorphisms on the Short-Term Response to Ranibizumab in Patients With Neovascular Age-Related Macular Degeneration

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 34

  17. Radiogenomics in lung cancer: Where are we?

    Lung Cancer, Vol. 176, pp. 56-74

  18. Reply to: Comments on “(Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer”

    International Journal of Cancer