Publicacións en colaboración con investigadores/as de Leiden University Medical Center (158)

2024

  1. Author Correction: Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement (Nature Reviews Endocrinology, (2023), 19, 12, (722-740), 10.1038/s41574-023-00886-5)

    Nature Reviews Endocrinology

  2. Consensus on criteria for acromegaly diagnosis and remission

    Pituitary, Vol. 27, Núm. 1, pp. 7-22

  3. Correction: consensus on criteria for acromegaly diagnosis and remission (Pituitary, (2024), 27, 1, (7-22), 10.1007/s11102-023-01360-1)

    Pituitary

  4. Oral glucocorticoid use in patients with rheumatoid arthritis initiating TNF-inhibitors, tocilizumab or abatacept: Results from the international TOCERRA and PANABA observational collaborative studies

    Joint Bone Spine, Vol. 91, Núm. 2

  5. Standards of care for medical management of acromegaly in pituitary tumor centers of excellence (PTCOE)

    Pituitary, Vol. 27, Núm. 4, pp. 381-388

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

    Nature

  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. Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

    Journal of Clinical Oncology, Vol. 41, Núm. 10, pp. 1849-1863

  6. 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

  7. 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

  8. Characteristics of individuals with alpha-1 antitrypsin deficiency from Northern and Southern European countries: EARCO international registry

    The European respiratory journal

  9. Correction: Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry (Respiratory Research, (2022), 23, 1, (352), 10.1186/s12931-022-02275-4)

    Respiratory Research

  10. Diagnosis and management of prolactin-secreting pituitary adenomas: a Pituitary Society international Consensus Statement

    Nature Reviews Endocrinology, Vol. 19, Núm. 12, pp. 722-740

  11. 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

  12. 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

  13. Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits

    Nature Communications, Vol. 14, Núm. 1

  14. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

    eClinicalMedicine, Vol. 58

  15. PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

    npj Breast Cancer, Vol. 9, Núm. 1