Publicacions en col·laboració amb investigadors/es de Erasmus University Medical Center (4)

2018

  1. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

    Genetics in Medicine, Vol. 20, Núm. 12, pp. 1652-1662

2017

  1. PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics

    Journal of Molecular Diagnostics, Vol. 19, Núm. 4, pp. 575-588

  2. The mTORC1 Complex Is Significantly Overactivated in SDHX -Mutated Paragangliomas

    Neuroendocrinology, Vol. 105, Núm. 4, pp. 384-393

2015

  1. Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

    Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656