Publications in collaboration with researchers from 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