Publications en collaboration avec des chercheurs 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