Publicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (18)

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

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. 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. 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

  2. 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

2016

  1. ATRX driver mutation in a composite malignant pheochromocytoma

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

2015

  1. DNA methylation profiling in pheochromocytoma and paraganglioma reveals diagnostic and prognostic markers

    Clinical Cancer Research, Vol. 21, Núm. 13, pp. 3020-3030

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

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

  3. 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

  4. 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

  5. SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: A multicenter interobserver variation analysis using virtual microscopy: A Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)

    Modern Pathology, Vol. 28, Núm. 6, pp. 807-821

  6. Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene

    Journal of the National Cancer Institute, Vol. 107, Núm. 5

2014

  1. DNA methylation profiling of well-differentiated thyroid cancer uncovers markers of recurrence free survival

    International Journal of Cancer, Vol. 135, Núm. 3, pp. 598-610

  2. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

    Human Molecular Genetics, Vol. 23, Núm. 9, pp. 2440-2446