Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria Galicia Sur (25)

2023

  1. 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

  2. A murine model of BSCL2-associated Celia's encephalopathy

    Neurobiology of Disease, Vol. 187

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

    Genome Medicine, Vol. 15, Núm. 1

  4. Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

    Cancer Medicine, Vol. 12, Núm. 15, pp. 16142-16162

  5. Clinical characteristics of chronic obstructive pulmonary disease in never-smokers: A systematic review

    Respiratory Medicine, Vol. 214

  6. Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

    Journal of Medical Genetics, Vol. 60, Núm. 12, pp. 1186-1197

  7. Spectrum and Frequency of Germline FANCM Protein-Truncating Variants in 44,803 European Female Breast Cancer Cases

    Cancers, Vol. 15, Núm. 13

2022

  1. Biotecnología para el diagnóstico, tratamiento y prevención de las enfermedades infecciosas en acuicultura

    SEM@foro, Núm. 74, pp. 53-54

  2. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  3. Common variants in breast cancer risk loci predispose to distinct tumor subtypes

    Breast Cancer Research, Vol. 24, Núm. 1

  4. Evaluation of contingency plans in the care of patients in intensive care units in the COVID-19 pandemic

    Journal of Healthcare Quality Research, Vol. 37, Núm. 5, pp. 291-298

  5. Novel Pyridazin-3(2H)-one-Based Guanidine Derivatives as Potential DNA Minor Groove Binders with Anticancer Activity

    ACS Medicinal Chemistry Letters, Vol. 13, Núm. 3, pp. 463-469

  6. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  7. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

    British Journal of Sports Medicine, Vol. 56, Núm. 20, pp. 1157-1170

  8. Rawl's questionnaire spanish validation for colorectal cancer screening with faecal occult blood testing

    Gastroenterologia y Hepatologia, Vol. 45, Núm. 2, pp. 106-113

  9. Residential radon and characteristics of chronic obstructive pulmonary disease

    Scientific Reports, Vol. 12, Núm. 1

  10. Where Do Chronic Obstructive Pulmonary Disease Patients Die? 8-Year Trend, with Special Focus on Sex-Related Differences

    International Journal of COPD, Vol. 17, pp. 1081-1087

2021

  1. Breast cancer risk factors and survival by tumor subtype: Pooled analyses from the breast cancer association consortium

    Cancer Epidemiology Biomarkers and Prevention, Vol. 30, Núm. 4, pp. 623-642

  2. Differences in the clinical profile and management of atrial fibrillation according to gender. Results of the registro gallego intercéntrico de fibrilación auricular (regueifa) trial

    Journal of Clinical Medicine, Vol. 10, Núm. 17

  3. Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

    American Journal of Human Genetics, Vol. 108, Núm. 7, pp. 1190-1203