Publicacións en colaboración con investigadores/as de Maastricht University Medical Centre (16)

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. 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

  3. Integrating biological HLA-DPB1 mismatch models to predict survival after unrelated hematopoietic cell transplantation

    Haematologica

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

    Cancers, Vol. 15, Núm. 13

  5. Transfusion practice in patients receiving VV ECMO (PROTECMO): a prospective, multicentre, observational study

    The Lancet Respiratory Medicine, Vol. 11, Núm. 3, pp. 245-255

2021

  1. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

    Nature Communications, Vol. 12, Núm. 1

  2. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

  3. CIRSE Clinical Practice Manual

    CardioVascular and Interventional Radiology, Vol. 44, Núm. 9, pp. 1323-1353

  4. Correction to: CIRSE Clinical Practice Manual (CardioVascular and Interventional Radiology, (2021), 44, 9, (1323-1353), 10.1007/s00270-021-02904-3)

    CardioVascular and Interventional Radiology

  5. Phenotypic clustering of dilated cardiomyopathy patients highlights important pathophysiological differences

    European Heart Journal, Vol. 42, Núm. 2, pp. 162-174

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  2. Redefining Cut-Points for High Symptom Burden of the Global Initiative for Chronic Obstructive Lung Disease Classification in 18,577 Patients With Chronic Obstructive Pulmonary Disease

    Journal of the American Medical Directors Association, Vol. 18, Núm. 12, pp. 1097.e11-1097.e24

2014

  1. Molecular profiling of circulating tumor cells links plasticity to the metastatic process in endometrial cancer

    Molecular Cancer, Vol. 13, Núm. 1

2012

  1. Erratum to "Cancer in inflammatory bowel disease 15years after diagnosis in a population-based European Collaborative follow-up study" [J Crohns Colitis (2011) 5, 430-442]

    Journal of Crohn's and Colitis

  2. Randomised controlled trial for emphysema with a selective agonist of the γ-type retinoic acid receptor

    European Respiratory Journal, Vol. 40, Núm. 2, pp. 306-312