Publicacións en colaboración con investigadores/as de Maastricht University Medical Centre (65)

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. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

    Neurology, Vol. 100, Núm. 23, pp. E2386-E2397

  3. Comparison of prone and supine positioning for breast cancer radiotherapy using REQUITE data: dosimetry, acute and two years physician and patient-reported outcomes

    Acta Oncologica, Vol. 62, Núm. 9, pp. 1036-1044

  4. Contouring variation affects estimates of normal tissue complication probability for breast fibrosis after radiotherapy

    Breast, Vol. 72

  5. Erratum: Correction to: Group A streptococcal disease in paediatric inpatients: a European perspective (European journal of pediatrics (2023) 182 2 (697-706))

    European journal of pediatrics

  6. 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

  7. Group A streptococcal disease in paediatric inpatients: a European perspective

    European Journal of Pediatrics, Vol. 182, Núm. 2, pp. 697-706

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

    Cancers, Vol. 15, Núm. 13

  9. Synergistic effects of childhood adversity and polygenic risk in first-episode psychosis: The EU-GEI study

    Psychological Medicine, Vol. 53, Núm. 5, pp. 1970-1978

2022

  1. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  2. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

    Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944

  3. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  4. Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort

    Advances in Radiation Oncology, Vol. 7, Núm. 3

  5. Genetic and psychosocial stressors have independent effects on the level of subclinical psychosis: findings from the multinational EU-GEI study

    Epidemiology and psychiatric sciences, Vol. 31, pp. e68

  6. Hemostasis Proteins in Invasive Meningococcal and Nonmeningococcal Infections: A Prospective Multicenter Study

    Pediatric Critical Care Medicine, Vol. 23, Núm. 12, pp. E543-E554

  7. No Association Between Polygenic Risk Scores for Cancer and Development of Radiation Therapy Toxicity

    International Journal of Radiation Oncology Biology Physics, Vol. 114, Núm. 3, pp. 494-501

  8. Overview of health-related quality of life and toxicity of non-small cell lung cancer patients receiving curative-intent radiotherapy in a real-life setting (the REQUITE study)

    Lung Cancer, Vol. 166, pp. 228-241

  9. The correlation between pre-treatment symptoms, acute and late toxicity and patient-reported health-related quality of life in non-small cell lung cancer patients: Results of the REQUITE study: Symptoms, toxicity and quality of life of lung cancer patients

    Radiotherapy and Oncology, Vol. 176, pp. 127-137