Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (455)

2024

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

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

  2. Genetic linkage analysis of head and neck cancer in a Spanish family

    Oral Diseases, Vol. 30, Núm. 3, pp. 1032-1039

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 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

  3. 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

  4. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

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

    Radiotherapy and Oncology, Vol. 178

  6. Cribriform morular thyroid carcinoma: a case report with pathological, immunohistochemical, and molecular findings suggesting an origin from follicular cells (or their endodermal precursors)

    Virchows Archiv, Vol. 482, Núm. 3, pp. 615-623

  7. 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

  8. 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

  9. Differences in Patterns of Stimulant Use and Their Impact on First-Episode Psychosis Incidence: An Analysis of the EUGEI Study

    Schizophrenia Bulletin, Vol. 49, Núm. 5, pp. 1269-1280

  10. 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

  11. Examining the association between exposome score for schizophrenia and cognition in schizophrenia, siblings, and healthy controls: Results from the EUGEI study

    Psychiatry Research, Vol. 323

  12. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

  13. Genetic testing in focal segmental glomerulosclerosis: in whom and when?

    Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022

  14. Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer

    Radiotherapy and Oncology, Vol. 187

  15. Is SARS-COV-2 associated with alpha-1 antitrypsin deficiency?

    Journal of Thoracic Disease, Vol. 15, Núm. 2, pp. 711-717

  16. Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

    JNCI Cancer Spectrum, Vol. 7, Núm. 6

  17. Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis

    HemaSphere, Vol. 7, Núm. 1, pp. E818

  18. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294