Publicacions en col·laboració amb investigadors/es de Centro Nacional de Investigaciones Oncológicas (25)

2023

  1. Genetic bases of pheochromocytoma and paraganglioma

    Journal of Molecular Endocrinology, Vol. 70, Núm. 3

  2. Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

    Nature Communications, Vol. 14, Núm. 1

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

2021

  1. Alterations in slc4a2, slc26a7 and slc26a9 drive acid–base imbalance in gastric neuroendocrine tumors and uncover a novel mechanism for a co-occurring polyautoimmune scenario

    Cells, Vol. 10, Núm. 12

  2. Analysis of telomere maintenance related genes reveals NOP10 as a new metastatic-risk marker in pheochromocytoma/paraganglioma

    Cancers, Vol. 13, Núm. 19

  3. Pheochromocytoma and paraganglioma

    The Hereditary Basis of Childhood Cancer (Springer International Publishing), pp. 101-137

2019

  1. Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/ mTOR axis in metastatic pheochromocytoma/ paraganglioma

    Theranostics, Vol. 9, Núm. 17, pp. 4946-4958

  2. Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-PronO study): A European network for the study of adrenal tumors retrospective study

    Journal of Clinical Endocrinology and Metabolism, Vol. 104, Núm. 6, pp. 2367-2374

  3. Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 651-664

2018

  1. Gain-of-function mutations in DNMT3A in patients with paraganglioma

    Genetics in Medicine, Vol. 20, Núm. 12, pp. 1644-1651

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

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

2017

  1. Molecular Genetics of Pheochromocytoma and Paraganglioma

    Contemporary Endocrinology (Humana Press Inc.), pp. 15-45

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

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

  3. Targeted exome sequencing of Krebs cycle genes reveals candidate cancer–predisposing mutations in pheochromocytomas and paragangliomas

    Clinical Cancer Research, Vol. 23, Núm. 20, pp. 6315-6325

  4. Targeted sequencing reveals low-frequency variants in EPHA genes as markers of paclitaxel-induced peripheral neuropathy

    Clinical Cancer Research, Vol. 23, Núm. 5, pp. 1227-1235

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

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

2016

  1. ATRX driver mutation in a composite malignant pheochromocytoma

    Cancer Genetics, Vol. 209, Núm. 6, pp. 272-277

2015

  1. Functional and in silico assessment of MAX variants of unknown significance

    Journal of Molecular Medicine, Vol. 93, Núm. 11, pp. 1247-1255

  2. High frequency and founder effect of the CYP3A4∗20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme

    Pharmacogenomics Journal, Vol. 15, Núm. 3, pp. 288-292

  3. 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