Publicacións en colaboración con investigadores/as de Maastricht University (12)

2023

  1. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050

2019

  1. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

    International Journal of Cancer, Vol. 145, Núm. 2, pp. 401-414

2018

  1. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

    Human Mutation, Vol. 39, Núm. 12, pp. 2025-2039

  2. Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer

    Oncotarget, Vol. 9, Núm. 25, pp. 17334-17348

2017

  1. Data-based radiation oncology: Design of clinical trials in the toxicity biomarkers era

    Frontiers in Oncology

2016

  1. Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients

    Radiotherapy and Oncology, Vol. 121, Núm. 3, pp. 431-439

  2. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

    Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 548-558

2015

  1. BRCA1 Circos: A visualisation resource for functional analysis of missense variants

    Journal of Medical Genetics, Vol. 52, Núm. 4, pp. 224-230

2014

  1. Comparison of mRNA splicing assay protocols across multiple laboratories: Recommendations for best practice in standardized clinical testing

    Clinical Chemistry, Vol. 60, Núm. 2, pp. 341-352

  2. Radiogenomics: Radiobiology enters the era of big data and team science

    International Journal of Radiation Oncology Biology Physics

  3. The REQUITE Project: Validating Predictive Models and Biomarkers of Radiotherapy Toxicity to Reduce Side-effects and Improve Quality of Life in Cancer Survivors

    Clinical Oncology

2013

  1. Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer

    Radiotherapy and Oncology, Vol. 107, Núm. 3, pp. 372-376