Hereditary Endocrine Cancer Group

Mercedes Robledo Group Leader
T +34 917328000 (Ext 3320)
mrobledo@cnio.es

Staff Scientists

Alberto Cascón
Cristina Rodríguez

Post-Doctoral Fellows

Luis Javier Leandro
Ángel Mario Martínez
Cristina Montero
Clara Reglero

Graduate Students

Javier de Nicolás
Sara Mellid
María Monteagudo
Carlos Valdivia

Technicians

Alicia Arenas
Rocío Letón
Gabriela Roberta Radu

Visiting Scientist

Alberto Díaz

Our Group is mainly interested in identifying genetic risk factors involved in endocrine tumour susceptibility. Through a comprehensive analysis of tumour genomic features, we have been able to propose diagnostic and prognostic markers, to identify altered pathways that could be therapeutically targeted, and to identify new major susceptibility genes.

We are also interested in defining markers associated with differences in anticancer drug response and toxicity. We are applying targeted and whole-exome next-generation sequencing to a large series of clinically well-characterised patients. The aim is to identify new therapeutic approaches to personalise cancer treatment. These efforts will collectively improve the diagnosis, prognosis, and treatment of patients.

Publications

Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, Torres-Pérez R, Fustero-Torre C, Pulgarín-Alfaro M, Gil E, Letón R, Jiménez S, García-Martín S, Martin MC, Roldán-Romero JM, Lanillos J, Mellid S, Santos M, Díaz-Talavera A, Rubio Á, González P, Hernando B, Bechmann N, Dona M, Calatayud M, Guadalix S, Álvarez-Escolá C, Regojo RM, Aller J, Del Olmo-Garcia MI, López-Fernández A, Fliedner SMJ, Rapizzi E, Fassnacht M, Beuschlein F, Quinkler M, Toledo RA, Mannelli M, Timmers HJ, Eisenhofer G, Rodríguez-Perales S, Domínguez O, Macintyre G, Currás-Freixes M, Rodríguez-Antona C, Cascón A, Leandro-García LJ, Montero-Conde C, Roncador G, García-García JF, Pacak K, Al-Shahrour F, Robledo M. (2023). Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma. Nat Commun 14, 1122. CNIO Publication.
Cascón A, Calsina B, Monteagudo M, Mellid S, Díaz-Talavera A, Currás-Freixes M, Robledo M. (2023). Genetic bases of pheochromocytoma and paraganglioma. J Mol Endocrinol 70, e220167. CNIO Publication.
Fischer A, Kloos S, Maccio U, Friemel J, Remde H, Fassnacht M, Pamporaki C, Eisenhofer G, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Zitzmann K, Bechmann N, Žygiene G, Richter S, Hantel C, Vetter D, Lehmann K, Mohr H, Pellegata NS, Ullrich M, Pietzsch J, Ziegler CG, Bornstein SR, Kroiss M, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S. (2023). Metastatic pheochromocytoma and paraganglioma: Somatostatin receptor 2 expression, genetics and therapeutic responses. J Clin Endocrinol Metab (in press). CNIO Publication.
Gimenez-Roqueplo AP, Robledo M, Dahia PLM. (2023). Update on the genetics of paragangliomas. Endocr-Relat Cancer 30, e220373. CNIO Publication.
Mellid S, Gil E, Letón R, Caleiras E, Honrado E, Richter S, Palacios N, Lahera M, Galofré JC, López-Fernández A, Calatayud M, Herrera-Martínez AD, Galvez MA, Matias-Guiu X, Balbín M, Korpershoek E, Lim ES, Maletta F, Lider S, Fliedner SMJ, Bechmann N, Eisenhofer G, Canu L, Rapizzi E, Bancos I, Robledo M, Cascón A. (2023). Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma. Front Endocrinol 13, 1070074. CNIO Publication.
Montero-Conde C, Leandro-García LJ, Martínez-Montes ÁM, Martínez P, Moya FJ, Letón R, Gil E, Martínez-Puente N, Guadalix S, Currás-Freixes M, García-Tobar L, Zafon C, Jordà M, Riesco-Eizaguirre G, González-García P, Monteagudo M, Torres-Pérez R, Mancikova V, Ruiz-Llorente S, Pérez-Martínez M, Pita G, Galofré JC, Gonzalez-Neira A, Cascón A, Rodríguez-Antona C, Megías D, Blasco MA, Caleiras E, Rodríguez-Perales S, Robledo M (2022). Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers. Clin Transl Med 12, e1001. CNIO Publication.
Bechmann N, Calsina B, Richter S, Pietzsch J. (2022). Therapeutic Potential of Nitric Oxide-Releasing Selective Estrogen Receptor Modulators in Malignant Melanoma. J Invest Dermatol (in press). CNIO Publication.
McDermott JH, Wolf J, Hoshitsuki K, Huddart R, Caudle KE, Whirl-Carrillo M, Steyger PS, Smith RJH, Cody N, Rodriguez-Antona C, Klein TE, Newman WG (2022). Clinical Pharmacogenetics Implementation Consortium Guideline for the Use of Aminoglycosides Based on MT-RNR1 Genotype. Clin Pharmacol Ther 111, 366-372. CNIO Publication.
Rodriguez-Antona C, Savieo JL, Lauschke VM, Sangkuhl K, Drögemöller BI, Wang D, van Schaik RHN, Gilep AA, Peter AP, Boone EC, Ramey BE, Klein TE, Whirl-Carrillo M, Pratt VM, Gaedigk A (2022). PharmVar GeneFocus: CYP3A5. Clin Pharmacol Ther (in press). CNIO Publication.
Jankovic Miljus J, Guillén-Sacoto MA, Makiadi-Alvarado J, Wert-Lamas L, Ramirez-Moya J, Robledo M, Santisteban P, Riesco-Eizaguirre G (2022). Circulating MicroRNA Profiles as Potential Biomarkers for differentiated thyroid cancer recurrence. J Clin Endocrinol Metab 107, 1280-1293. CNIO Publication.
Lanillos J, Carcajona M, Maietta P, Alvarez S, Rodriguez-Antona C (2022). Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data. NPJ GENOM MED 7, 12. CNIO Publication.
Richter S, Qiu B, Ghering M, Kunath C, Constantinescu G, Luths C, Pamporaki C, Bechmann N, Meuter L, Kwapiszewska A, Deutschbein T, Nölting S, Peitzsch M, Robledo M, Prejbisz A, Pacak K, Gudziol V, Timmers HJ, Eisenhofer G. (2022). Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine. Endocr-Relat Cancer 29, 213-224. CNIO Publication.
Benito-Sánchez B, Barroso A, Fernández V, Mercadillo F, Núñez-Torres R, Pita G, Pombo L, Morales-Chamorro R, Cano-Cano JM, Urioste M, González-Neira A, Osorio A. (2022). Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants. Sci Rep 12, 8547. CNIO Publication.
Bliziotis NG, Kluijtmans LAJ, Soto S, Tinnevelt GH, Langton K, Robledo M, Pamporaki C, Engelke UFH, Erlic Z, Engel J, Deutschbein T, Nölting S, Prejbisz A, Richter S, Prehn C, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Eisenhofer G, Beuschlein F, Kroiss M, Wevers RA, Jansen JJ, Deinum J, Timmers HJLM. (2022). Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma. Endocrine 75, 254-265. CNIO Publication.
Pena-Couso L, Ercibengoa M, Mercadillo F, Gómez-Sánchez D, Inglada-Pérez L, Santos M, Lanillos J, Gutiérrez-Abad D, Hernández A, Carbonell P, Letón R, Robledo M, Rodríguez-Antona C, Perea J, Urioste M; PHTS Working Group. (2022). Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients. Orphanet J Rare Dis 17, 85. CNIO Publication.
Díaz-Talavera A, Montero-Conde C, Leandro-García LJ, Robledo M. (2022). PrimPol: A Breakthrough among DNA Replication Enzymes and a Potential New Target for Cancer Therapy. Biomolecules 12, 248. CNIO Publication.
Amar L, Pacak K, Steichen O, Akker SA, Aylwin SJB, Baudin E, Buffet A, Burnichon N, Clifton-Bligh RJ, Dahia PLM, Fassnacht M, Grossman AB, Herman P, Hicks RJ, Januszewicz A, Jimenez C, Kunst HPM, Lewis D, Mannelli M, Naruse M, Robledo M, Taïeb D, Taylor DR, Timmers HJLM, Treglia G, Tufton N, Young WF, Lenders JWM, Gimenez-Roqueplo AP, Lussey-Lepoutre C (2021). International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers. Nat. Rev. Endocrinol. 17, 435-444. CNIO Publication.
Santos M, Lanillos J, Roldan-Romero JM, Caleiras E, Montero-Conde C, Cascón A, Climent MA, Anguera G, Hernando S, Laínez N, Robledo M, Robles L, de Velasco G, García-Donas J, Rodriguez-Antona C (2021). Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma. Genet Med 23, 698-704. CNIO Publication.
Ben Aim L, Maher ER, Cascon A, Barlier A, Giraud S, Ercolino T, Pigny P, Clifton-Bligh RJ, Mirebeau-Prunier D, Mohamed A, Favier J, Gimenez-Roqueplo AP, Schiavi F, Toledo RA, Dahia PL, Robledo M, Bayley JP, Burnichon N (2021). International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma. J Med Genet (in press). CNIO Publication.
Esteban E, Exposito F, Crespo G, Lambea J, Pinto A, Puente J, Arranz JA, Redrado M, Rodriguez-Antona C, de Andrea C, Lopez-Brea M, Redin E, Rodriguez A, Serrano D, Garcia J, Grande E, Castellano D, Calvo A (2021). Circulating levels of the interferon-?-regulated chemokines CXCL10/CXCL11, IL-6 and HGF predict outcome in metastatic renal cell carcinoma patients treated with antiangiogenic therapy. Cancers 13, 2849. CNIO Publication.
Kinget L, Roussel E, Lambrechts D, Boeckx B, Vanginderhuysen L, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Verbiest A, Zucman-Rossi J, Couchy G, Caruso S, Laenen A, Baldewijns M, Beuselinck (2021). MicroRNAs possibly involved in the development of bone metastasis in clear-cell renal cell carcinoma.. Cancers 13, 1554. CNIO Publication.
Kinget L, Roussel E, Verbiest A, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Zucman-Rossi J, Couchy G, Job S, de Reyniès A, Laenen A, Baldewijns M, Beuselinck B (2021). MicroRNAs targeting HIF-2?, VEGFR1 and/or VEGFR2 as potential predictive biomarkers for VEGFR tyrosine kinase and HIF-2? inhibitors in metastatic clear-cell renal cell carcinoma. Cancers 13, 3099. CNIO Publication.
Monteagudo M, Martínez P, Leandro-García LJ, Martínez-Montes ÁM, Calsina B, Pulgarín-Alfaro M, Díaz-Talavera A, Mellid S, Letón R, Gil E, Pérez-Martínez M, Megías D, Torres-Ruiz R, Rodriguez-Perales S, González P, Caleiras E, Jiménez-Villa S, Roncador G, Álvarez-Escolá C, Regojo RM, Calatayud M, Guadalix S, Currás-Freixes M, Rapizzi E, Canu L, Nölting S, Remde H, Fassnacht M, Bechmann N, Eisenhofer G, Mannelli M, Beuschlein F, Quinkler M, Rodríguez-Antona C, Cascón A, Blasco MA, Montero-Conde C, Robledo M (2021). Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma. Cancers 13, 4758. CNIO Publication.
Murakami M, Sun N, Greunke C, Feuchtinger A, Kircher S, Deutschbein T, Papathomas T, Bechmann N, Wallace PW, Peitzsch M, Korpershoek E, Friemel J, Gimenez Roqueplo AP, Robledo M, Timmers HJ, Canu L, Weber A, de Krijger RR, Fassnacht M, Knösel T, Kirchner T, Reincke M, Walch AK, Kroiss M, Beuschlein F (2021). Mass Spectrometry Imaging Identifies Metabolic Patterns Associated with Malignant Potential in Pheochromocytoma and Paraganglioma. Eur J Endocrinol 185, 179-191. CNIO Publication.
Grande E, Rodriguez-Antona C, López C, Alonso-Gordoa T, Benavent M, Capdevila J, Teulé A, Custodio A, Sevilla I, Hernando J, Gajate P, Molina-Cerrillo J, Díez JJ, Santos M, Lanillos J, García-Carbonero R (2021). Sunitinib and Evofosfamide (TH-302) in systemic treatment-naïve patients with grade 1/2 metastatic pancreatic neuroendocrine tumors: the GETNE-1408 trial.. Oncologist 26, 941-949. CNIO Publication.
März J, Kurlbaum M, Roche-Lancaster O, Deutschbein T, Peitzsch M, Prehn C, Weismann D, Robledo M, Adamski J, Fassnacht M, Kunz M, Kroiss M (2021). Plasma Metabolome Profiling for the Diagnosis of Catecholamine Producing Tumors. Front Endocrinol 12, 722656. CNIO Publication.
Garcia-Carbonero R, Matute Teresa F, Mercader-Cidoncha E, Mitjavila-Casanovas M, Robledo M, Tena I, Alvarez-Escola C, Arístegui M, Bella-Cueto MR, Ferrer-Albiach C, Hanzu FA (2021). Multidisciplinary practice guidelines for the diagnosis, genetic counseling and treatment of pheochromocytomas and paragangliomas. Clin Transl Oncol 23, 1995-2019. CNIO Publication.
Villabona C, Oriola J, Serrano T, Guerrero-Pérez F, Valdés N, Chiara M, Robledo M. (2021). The recurrent p.(Pro540Ser) MEN1 genetic variant should be considered nonpathogenic: A case report. Am J Med Genet A 85, 3872-3876. CNIO Publication.
Talhouk A et al. (incl. Benitez J) (2020). Development and validation of the gene expression predictor of high-grade serous ovarian carcinoma molecular subTYPE (PrOTYPE).. Clin Cancer Res 26, 5411-5423. CNIO Publication.
Castro-Vega LJ*, Calsina B*, Burnichon N, Drossart T, Martínez-Montes ÁM, Verkarre V, Amar L, Bertherat J, Rodríguez-Antona C, Favier J, Robledo M, Gimenez-Roqueplo AP (2020). Overexpression of miR-483-5p is confined to metastases and linked to high circulating levels in patients with metastatic pheochromocytoma/paraganglioma.. Clin Transl Med 10, e260. CNIO Publication. Open Access
Rai SK, Bril F, Hatch HM, Xu Y, Shelton L, Kalavalapalli S, Click A, Lee D, Beecher C, Kirby A, Kong K, Trevino J, Jha A, Jatav S, Kriti K, Luthra S, Garrett TJ, Guingab-Cagmat J, Plant D, Bose P, Cusi K, Hromas RA, Tischler AS, Powers JF, Gupta P, Bibb J, Beuschlein F, Robledo M, Calsina B, Timmers H, Taieb D, Kroiss M, Richter S, Langton K, Eisenhofer G, Bergeron R Jr, Pacak K, Tevosianc SG, Ghayee HK. (2020). Targeting Pheochromocytoma/Paraganglioma with polyamine inhibitors.. Metabolism 110, 154297. CNIO Publication.
Wallace PW, Conrad C, Brückmann S, Pang Y, Caleiras E, Murakami M, Korpershoek E, Zhuang Z, Rapizzi E, Kroiss M, Gudziol V, Timmers HJ, Mannelli M, Pietzsch J, Beuschlein F, Pacak K, Robledo M, Klink B, Peitzsch M, Gill AJ, Tischler AS, de Krijger RR, Papathomas T, Aust D, Eisenhofer G, Richter S (2020). Metabolomics, machine learning and immunohistochemistry to predict succinate dehydrogenase mutational status in phaeochromocytomas and paragangliomas. J Pathol 251, 378-387. CNIO Publication.
Martins FC, Couturier DL, Paterson A, Karnezis AN, Chow C, Nazeran TM, Odunsi A, Gentry-Maharaj A, Vrvilo A, Hein A, Talhouk A, Osorio A, Hartkopf AD, Brooks-Wilson A, DeFazio A, Fischer A, Hartmann A, Hernandez BY, McCauley BM, Karpinskyj C, de Sousa CB, Høgdall C, Tiezzi DG, Herpel E, Taran FA, Modugno F, Keeney G, Nelson G, Steed H, Song H, Luk H, Benitez J, Alsop J, Koziak JM, Lester J, Rothstein JH, de Andrade JM, Lundvall L, Paz-Ares L, Robles-Díaz L, Wilkens LR, Garcia MJ, Intermaggio MP, Alcaraz ML, Brett MA, Beckmann MW, Jimenez-Linan M, Anglesio M, Carney ME, Schneider M, Traficante N, Pejovic N, Singh N, Le N, Sinn P, Ghatage P, Erber R, Edwards R, Vierkant R, Ness RB, Leung S, Orsulic S, Brucker SY, Kaufmann SH, Fereday S, Gayther S, Winham SJ, Kommoss S, Pejovic T, Longacre TA, McGuire V, Rhenius V, Sieh W, Shvetsov YB, Whittemore AS, Staebler A, Karlan BY, Rodriguez-Antona C, Bowtell DD, Goode EL, Høgdall E, Candido Dos Reis FJ, Gronwald J, Chang-Claude J, Moysich KB, Kelemen LE, Cook LS, Goodman MT, Fasching PA, Crawford R, Deen S, Menon U, Huntsman DG, Köbel M, Ramus SJ, Pharoah PDP, Brenton JD (2020). Clinical and pathological associations of PTEN expression in ovarian cancer: a multicentre study from the Ovarian Tumour Tissue Analysis Consortium. Br J Cancer 123, 793-802. CNIO Publication.
Roldan-Romero JM, Beuselinck B, Santos M, Rodriguez-Moreno JF, Lanillos J, Calsina B, Gutierrez A, Tang K, Lainez N, Puente J, Castellano D, Esteban E, Climent MA, Arranz JA, Albersen M, Oudard S, Couchy G, Caleiras E, Montero-Conde C, Cascón A, Robledo M, Rodríguez-Antona C, García-Donas J; Spanish Oncology Genitourinary Group (SOGUG). (2020). PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma.. Int J Cancer 146, 1435-1444. CNIO Publication.
Roldan-Romero JM, Santos M, Lanillos J, Caleiras E, Anguera G, Maroto P, García-Donas J, de Velasco G, Martinez-Montes ÁM, Calsina B, Monteagudo M, Letón R, Leandro-García LJ, Montero-Conde C, Cascón A, Robledo M, Rodriguez-Antona C (2020). Molecular characterization of chromophobe renal cell carcinoma reveals mTOR pathway alterations in patients with poor outcome. Mod Pathol 33, 2580-2590. CNIO Publication.
20. Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, Deflorenne E, Aller J, Bourdeau I, Bressac-de Paillerets B, Calatayud M, Dehais C, De Mones Del Pujol E, Elenkova A, Herman P, Kamenický P, Lejeune S, Sadoul JL, Barlier A, Richard S, Favier J, Burnichon N, Gardie B, Dahia PL, Robledo M, Gimenez-Roqueplo AP (2020). Germline mutations in the new E1′ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. J Med Genet 572, 752-759. CNIO Publication.
Mellid S, Coloma J, Calsina B, Monteagudo M, Roldán-Romero JM, Santos M, Leandro-García LJ, Lanillos J, Martínez-Montes ÁM, Rodríguez-Antona C, Montero-Conde C, Martínez-López J, Ayala R, Matias-Guiu X, Robledo M, Cascón A (2020). Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma. Cancers 12, 3304. CNIO Publication.
Stage TB, Mortensen C, Khalaf S, Steffensen V, Hammer HS, Xiong C, Nielsen F, Poetz O, Svenningsen ÅF, Rodriguez-Antona C, Kroetz D (2020). P-glycoprotein Inhibition Exacerbates Paclitaxel Neurotoxicity in Neurons and Cancer Patients.. Clin Pharmacol Ther 108, 671-680. CNIO Publication.
Bechmann N, Moskopp ML, Ullrich M, Calsina B, Wallace PW, Richter S, Friedemann M, Langton K, Fliedner SMJ, Timmers HJLM, Nölting S, Beuschlein F, Fassnacht M, Prejbisz A, Pacak K, Ghayee HK, Bornstein SR, Dieterich P, Pietzsch J, Wielockx B, Robledo M, Qin N, Eisenhofer G (2020). HIF2a supports pro-metastatic behavior in pheochromocytomas/paragangliomas. Endocr-Relat Cancer 27, 625-640. CNIO Publication.
Cordero-Barreal L, Caleiras E, López de Maturana E, Monteagudo M, Martínez-Montes ÁM, Letón R, Gil E, Álvarez-Escolá C, Regojo RM, Andía V, Marazuela M, Guadalix S, Calatayud M, Robles-Díaz L, Aguirre M, Cano JM, Díaz JÁ, Saavedra P, Lamas C, Azriel S, Sastre J, Aller J, Leandro-García LJ, Calsina B, Roldán-Romero JM, Santos M, Lanillos J, Cascón A, Rodríguez-Antona C, Robledo M, Montero-Conde C (2020). CD133 expression in medullary thyroid cancer cells identifies patients with poor prognosis. J Clin Endocrinol Metab 105, dgaa527. CNIO Publication.
Dahia PLM, Clifton-Bligh R, Gimenez-Roqueplo AP, Robledo M, Jimenez C (2020). Hereditary endocrine tumours: current state-of-the art and research opportunities. Metastatic pheochromocytomas and paragangliomas: proceedings of the MEN2019 workshop.. Endocr-Relat Cancer 27, T41-T52. CNIO Publication.
Jiang J, Zhang J, Pang Y, Bechmann N, Li M, Monteagudo M, Calsina B, Gimenez-Roqueplo AP, Nölting S, Beuschlein F, Fassnacht M, Deutschbein T, Timmers HJLM, Åkerström T, Crona J, Quinkler M, Fliedner SMJ, Liu Y, Guo J, Li X, Guo W, Hou Y, Wang C, Zhang L, Xiao Q, Liu L, Gao X, Burnichon N, Robledo M, Eisenhofer G (2020). Sino-European differences in the genetic landscape and clinical presentation of pheochromocytoma and paraganglioma.. J Clin Endocrinol Metab 105, dgaa502. CNIO Publication.
Lenders JWM, Kerstens MN, Amar L, Prejbisz A, Robledo M, Taieb D, Pacak K, Crona J, Zelinka T, Mannelli M, Deutschbein T, Timmers HJLM, Castinetti F, Dralle H, Widimský J, Gimenez-Roqueplo AP, Eisenhofer G (2020). Genetics, Diagnosis, Management and Future Directions of Research of Phaeochromocytoma and Paraganglioma: A Position Statement and Consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension. J Hypertens 38, 1443-1456. CNIO Publication.
Eisenhofer G, Deutschbein T, Constantinescu G, Langton K, Pamporaki C, Calsina B, Monteagudo M, Peitzsch M, Fliedner S, Timmers HJLM, Bechmann N, Fankhauser M, Nölting S, Beuschlein F, Stell A, Fassnacht M, Prejbisz A, Lenders JWM, Robledo M (2020). Plasma metanephrines and prospective prediction of tumor location, size and mutation type in patients with pheochromocytoma and paraganglioma.. Clin Chem Lab Med 59, 353-363. CNIO Publication.
Garrigós C, Molina-Pinelo S, Meléndez R, Espinosa M, Lerma A, Taron M, García-Donas J, Rodriguez-Antona C, Duran I (2020). MicroRNAs as potential predictors of extreme response to tyrosine kinase inhibitors in renal cell cancer.. Urol Oncol-Semin Ori 38, 640.e23-640.e29. CNIO Publication.
Larsen LV, Mirebeau-Prunier D, Imai T, Alvarez-Escola C, Hasse-Lazar K, Censi S, Castroneves LA, Sakurai A, Kihara M, Horiuchi K, Barbu VD, Borson-Chazot F, Gimenez-Roqueplo AP, Pigny P, Pinson S, Wohllk N, Eng C, Aydogan BI, Saranath D, Dvorakova S, Castinetti F, Patocs A, Bergant D, Links TP, Peczkowska M, Hoff AO, Mian C, Dwight T, Jarzab B, Neumann HPH, Robledo M, Uchino S, Barlier A, Godballe C, Mathiesen JS (2020). Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.. ENDOCR CONNECT 9, 489-497. CNIO Publication. Open Access
Svedberg A, Björn N, Sigurgeirsson B, Pradhananga S, Brandén E, Koyi H, Lewensohn R, De Petris L, Apellániz-Ruiz M, Rodríguez-Antona C, Lundeberg J, Gréen H (2020). Genetic association of gemcitabine/carboplatin-induced leukopenia and neutropenia in non-small cell lung cancer patients using whole-exome sequencing.. Pharmacogenomics J 147, 106-114. CNIO Publication.
Verbiest A, Van Hoef V, Rodriguez-Antona C, García-Donas J, Graña-Castro O, Albersen M, Baldewijns M, Laenen A, Roussel E, Schöffski P, Wozniak A, Caruso S, Couchy G, Zucman-Rossi J, Beuselinck B (2020). MicroRNA expression profiles in molecular subtypes of clear-cell renal cell carcinoma are associated with clinical outcome and repression of specific mRNA targets. PLoS One 15, e0238809. CNIO Publication. Open Access
Lanillos J, Santos M, Carcajona M, Roldan-Romero JM, Martinez AM, Calsina B, Monteagudo M, Leandro-García LJ, Montero-Conde C, Cascón A, Maietta P, Alvarez S, Robledo M, Rodriguez-Antona C (2020). A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 Through Next-Generation Sequencing Off-Target Data. J Clin Med 9, E2082. CNIO Publication. Open Access
Saiz-Rodríguez M, Almenara S, Navares-Gómez M, Ochoa D, Román M, Zubiaur P, Koller D, Santos M, Mejía G, Borobia AM, Rodríguez-Antona C, Abad-Santos F (2020). Effect of the Most Relevant CYP3A4 and CYP3A5 Polymorphisms on the Pharmacokinetic Parameters of 10 CYP3A Substrates.. Biomedicines 8, E94. CNIO Publication. Open Access
Taron M, Llerena A, Manolopoulos VG, Rodriguez-Antona C, Stankovic S, van Schaik RHN. (2020). The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What’s next? An urgent clinical unmet need for patients. Drug Metabolism and Personalized Therapy (in press). CNIO Publication.
Garcia-Carpizo V, Ruiz-Llorente S, Sarmentero J, González-Corpas A, Barrero MJ (2019). CREBBP/EP300 Bromodomain Inhibition Affects the Proliferation of AR-Positive Breast Cancer Cell Lines. Mol Cancer Res 13, 720-730. CNIO Publication.
García-Silva S, Benito-Martín A, Sánchez-Redondo S, Hernández-Barranco A, Ximénez-Embún P, Nogués L, Mazariegos MS, Brinkmann K, Amor López A, Meyer L, Rodríguez C, García-Martín C, Boskovic J, Letón R, Montero C, Robledo M, Santambrogio L, Sue Brady M, Szumera-Cieckiewicz A, Kalinowska I, Skog J, Noerholm M, Muñoz J, Ortiz-Romero PL, Ruano Y, Rodríguez-Peralto JL, Rutkowski P, Peinado H (2019). Use of extracellular vesicles from lymphatic drainage as surrogate markers of melanoma progression and BRAF V600E mutation. J Exp Med 216, 1061-1070. CNIO Publication.
Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Currás-Freixes M, Letón R, Torres-Pérez R, Richter S, Pita G, Herráez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, García-Uriarte Ó, Gálvez MÁ, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodríguez-Antona C, Llorca Ó, Smolen GA, Robledo M, Cascón A (2019). Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. Am J Hum Genet 104, 651-664. CNIO Publication.
Rubio C, Martínez-Fernández M, Segovia C, Lodewijk I, Suarez-Cabrera C, Segrelles C, López-Calderón F, Munera-Maravilla E, Santos M, Bernardini A, García-Escudero R, Lorz C, Gómez-Rodriguez MJ, de Velasco G, Otero I, Villacampa F, Guerrero-Ramos F, Ruiz S, de la Rosa F, Domínguez-Rodríguez S, Real FX, Malats N, Castellano D, Dueñas M, Paramio JM (2019). CDK4/6 Inhibitor as a Novel Therapeutic Approach for Advanced Bladder Cancer Independently of RB1 Status. Clin Cancer Res 25, 390-402. CNIO Publication.
Yang Y, Wu L, Shu X, Lu Y, Shu XO, Cai Q, Beeghly-Fadiel A, Li B, Ye F, Berchuck A, Anton-Culver H, Banerjee S, Benitez J, Bjørge L, Brenton JD, Butzow R, Campbell IG, Chang-Claude J, Chen K, Cook LS, Cramer DW, deFazio A, Dennis J, Doherty JA, Dörk T, Eccles DM, Edwards DV, Fasching PA, Fortner RT, Gayther SA, Giles GG, Glasspool RM, Goode EL, Goodman MT, Gronwald J, Harris HR, Heitz F, Hildebrandt MA, Høgdall E, Høgdall CK, Huntsman DG, Kar SP, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Koushik A, Lambrechts D, Le ND, Levine DA, Massuger LF, Matsuo K, May T, McNeish IA, Menon U, Modugno F, Monteiro AN, Moorman PG, Moysich KB, Ness RB, Nevanlinna H, Olsson H, Onland-Moret NC, Park SK, Paul J, Pearce CL, Pejovic T, Phelan CM, Pike MC, Ramus SJ, Riboli E, Rodriguez-Antona C, Romieu I, Sandler DP, Schildkraut JM, Setiawan VW, Shan K, Siddiqui N, Sieh W, Stampfer MJ, Sutphen R, Swerdlow AJ, Szafron LM, Teo SH, Tworoger SS, Tyrer JP, Webb PM, Wentzensen N, White E, Willett WC, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J (2019). Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk. Cancer Res 79, 505-517. CNIO Publication.
Calsina B, Castro-Vega LJ, Torres-Pérez R, Inglada-Pérez L, Currás-Freixes M, Roldán-Romero JM, Mancikova V, Letón R, Remacha L, Santos M, Burnichon N, Lussey-Lepoutre C, Rapizzi E, Graña O, Álvarez-Escolá C, de Cubas AA, Lanillos J, Cordero-Barreal A, Martínez-Montes ÁM, Bellucci A, Amar L, Fernandes-Rosa FL, Calatayud M, Aller J, Lamas C, Sastre-Marcos J, Canu L, Korpershoek E, Timmers HJ, Lenders JW, Beuschlein F, Fassnacht-Capeller M, Eisenhofer G, Mannelli M, Al-Shahrour F, Favier J, Rodríguez-Antona C, Cascón A, Montero-Conde C, Gimenez-Roqueplo AP, Robledo M (2019). Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma.. Theranostics 9, 4946-4958. CNIO Publication. Open Access
Richter S, Gieldon L, Pang Y, Peitzsch M, Huynh T, Leton R, Viana B, Ercolino T, Mangelis A, Rapizzi E, Menschikowski M, Aust D, Kroiss M, Beuschlein F, Gudziol V, Timmers HJ, Lenders J, Mannelli M, Cascon A, Pacak K, Robledo M, Eisenhofer G, Klink B (2019). Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma. Genet Med 21, 705-717. CNIO Publication.
Bechmann N, Poser I, Seifert V, Greunke C, Ullrich M, Qin N, Walch A, Peitzsch M, Robledo M, Pacak K, Pietzsch J, Richter S, Eisenhofer G (2019). Impact of Extrinsic and Intrinsic Hypoxia on Catecholamine Biosynthesis in Absence or Presence of Hif2a in Pheochromocytoma Cells. Cancers 11, 594. CNIO Publication. Open Access
Carril-Ajuria L, Santos M, Roldán-Romero JM, Rodriguez-Antona C, de Velasco G (2019). Prognostic and Predictive Value of PBRM1 in Clear Cell Renal Cell Carcinoma.. Cancers 12, E16. CNIO Publication. Open Access
Cascón A, Remacha L, Calsina B, Robledo M (2019). Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration. Cancers 11, 683. CNIO Publication. Open Access
Gieldon L, William D, Hackmann K, Jahn W, Jahn A, Wagner J, Rump A, Bechmann N, Nölting S, Knösel T, Gudziol V, Constantinescu G, Masjkur J, Beuschlein F, Timmers HJ, Canu L, Pacak K, Robledo M, Aust D, Schröck E, Eisenhofer G, Richter S, Klink B (2019). Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.. Cancers 11, E809. CNIO Publication. Open Access
Ullrich M, Richter S, Seifert V, Hauser S, Calsina B, Martínez-Montes ÁM, Ter Laak M, Ziegler CG, Timmers H, Eisenhofer G, Robledo M, Pietzsch (2019). Targeting Cyclooxygenase-2 in Pheochromocytoma and Paraganglioma: Focus on Genetic Background. Cancers 11, 743. CNIO Publication. Open Access
Ciruelos E, Apellániz-Ruiz M, Cantos B, Martinez-Jáñez N, Bueno-Muiño C, Echarri MJ, Enrech S, Guerra JA, Manso L, Pascual T, Dominguez C, Gonzalo JF, Sanz JL, Rodriguez-Antona C, Sepúlveda JM (2019). A Pilot, Phase II, Randomized, Open-Label Clinical Trial Comparing the Neurotoxicity of Three Dose Regimens of Nab-Paclitaxel to That of Solvent-Based Paclitaxel as the First-Line Treatment for Patients with Human Epidermal Growth Factor Receptor Type 2-Negative Metastatic Breast Cancer. Oncologist 24, e1024-e1033. CNIO Publication.
Erlic Z, Kurlbaum M, Deutschbein T, Nölting S, Prejbisz A, Timmers HJ, Richter S, Prehn C, Weismann D, Adamski J, Januszewicz A, Reincke M, Fassnacht M, Robledo M, Eisenhofer G, Beuschlein F, Kroiss M (2019). Metabolic impact of pheochromocytoma/paraganglioma: Targeted metabolomics in patients before and after tumor removal. Eur J Endocrinol 181, 647-657. CNIO Publication.
Hescot S, Curras-Freixes M, Deutschbein T, van Berkel A, Vezzosi D, Amar L, de la Fouchardière C, Valdes N, Riccardi N, Do Cao C, Bertherat J, Goichot B, Beuschlein F, Drui D, Canu L, Niccoli P, Laboureau S, Tabarin A, Leboulleux S, Calsina B, Libé R, Faggiano A, Schlumberger M, Borson-Chazot F, Mannelli M, Gimenez-Roqueplo AP, Caron P, Timmers HJLM, Fassnacht M, Robledo M, Borget I, Baudin E; European Network for the Study of Adrenal Tumors (ENS@T) (2019). Prognosis of malignant pheochromocytoma and paraganglioma (MAPP-Prono study): an ENS@T retrospective study. J Clin Endocrinol Metab 104, 2367-2374. CNIO Publication.
Montero-Conde C, Graña-Castro O, Martín-Serrano G, Martínez-Montes ÁM, Zarzuela E, Muñoz J, Torres-Perez R, Pita G, Cordero-Barreal A, Leandro-García LJ, Letón R, de Silanes IL, Guadalix S, Pérez-Barrios A, Hawkins F, Guerrero-Álvarez A, Álvarez-Escolá C, Regojo-Zapata R, Calsina B, Remacha L, Roldán-Romero JM, Santos M, Lanillos J, Jordá M, Riesco-Eizaguirre G, Zafon C, González-Neira A, Blasco MA, Al-Shahrour F, Rodríguez-Antona C, Cascón A, Robledo M. (2019). Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing.. Int J Cancer 146, 521-530. CNIO Publication.
Sánchez-Barroso L, Apellaniz-Ruiz M, Gutiérrez-Gutiérrez G, Santos M, Roldán-Romero JM, Curras M, Remacha L, Calsina B, Calvo I, Sereno M, Merino M, García-Donas J, Castelo B, Guerra E, Letón R, Montero-Conde C, Cascón A, Inglada-Pérez L, Robledo M, Rodríguez-Antona C (2019). Concomitant medications and risk of chemotherapy-induced peripheral neuropathy. Oncologist 24, e784-e792. CNIO Publication.
Guerrero-Pérez F, Fajardo C, Torres Vela E, Giménez-Palop O, Lisbona Gil A, Martín T, González N, Díez JJ, Iglesias P, Robledo M, Villabona C (2019). 3P association (3PAs): Pituitary adenoma and pheochromocytoma/paraganglioma. A heterogeneous clinical syndrome associated with different gene mutations.. Eur J Intern Med 69, 14-19. CNIO Publication.
Björn N, Sigurgeirsson B, Svedberg A, Pradhananga S, Brandén E, Koyi H, Lewensohn R, de Petris L, Apellániz-Ruiz M, Rodríguez-Antona C, Lundeberg J, Gréen H (2019). Genes and variants in hematopoiesis-related pathways are associated with gemcitabine/carboplatin-induced thrombocytopenia. Pharmacogenomics J (in press). CNIO Publication.
Duran Alvarez MA, Tavarez Rodriguez JJ, Robledo M (2019). Paraganglioma of the tongue with SDHB gene mutation in a patient with Graves’ disease. Clin Case Rep 7, 726-730. CNIO Publication. Open Access
Barriuso J, Custodio A, Afonso R, Alonso V, Astudillo A, Capdevila J, García-Carbonero R, Grande E, Jimenez-Fonseca P, Marazuela M, Rodríguez-Antona C, Aller J (2018). Prognostic and predictive biomarkers for somatostatin analogs, peptide receptor radionuclide therapy and serotonin pathway targets in neuroendocrine tumours. Cancer Treat Rev 70, 209-222. CNIO Publication.
Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M (2018). Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genet Med 20, 1652-1662. CNIO Publication.
Liu X, Swen JJ, Diekstra MHM, Boven E, Castellano D, Gelderblom H, Mathijssen RHJ, Vermeulen SH, Oosterwijk E, Junker K, Roessler M, Alexiusdottir K, Sverrisdottir A, Radu MT, Ambert V, Eisen T, Warren A, Rodríguez-Antona C, García-Donas J, Böhringer S, Koudijs KKM, Kiemeney LALM, Rini BI, Guchelaar HJ (2018). A Genetic Polymorphism in CTLA-4 Is Associated with Overall Survival in Sunitinib-Treated Patients with Clear Cell Metastatic Renal Cell Carcinoma. Clin Cancer Res 24, 2350-2356. CNIO Publication.
Lu Y, Beeghly-Fadiel A, Wu L, Guo X, Li B, Schildkraut JM, Im HK, Chen YA, Permuth JB, Reid BM, Teer JK, Moysich KB, Andrulis IL, Anton-Culver H, Arun BK, Bandera EV, Barkardottir RB, Barnes DR, Benitez J, Bjørge L, Brenton J, Butzow R, Caldes T, Caligo MA, Campbell IG, Chang-Claude J, Claes KBM, Couch FJ, Cramer DW, Daly MB, DeFazio A, Dennis J, Díez O, Domchek SM, Dork T, Easton DF, Eccles DM, Fasching PA, Fortner RT, Fountzilas G, Friedman E, Ganz PA, Garber J, Giles GG, Godwin AK, Goldgar DE, Goodman MT, Greene MH, Gronwald J, Hamann U, Heitz F, Hildebrandt MAT, Høgdall CK, Hollestelle A, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James P, Karlan BY, Kelemen LE, Kiemeney LA, Kjaer SK, Kwong A, Le ND, Leslie G, Lesueur F, Levine DA, Mattiello A, May T, McGuffog L, McNeish IA, Merritt MA, Modugno F, Montagna M, Neuhausen SL, Nevanlinna H, Cilius Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson SH, Olsson H, Osorio A, Park SK, Parsons MT, Peeters PHM, Pejovic T, Peterlongo P, Phelan CM, Pujana MA, Ramus SJ, Rennert G, Risch H, Rodriguez GC, Rodríguez-Antona C, Romieu I, Rookus MA, Rossing MA, Rzepecka IK, Sandler DP, Schmutzler RK, Setiawan VW, Sharma P, Sieh W, Simard J, Singer CF, Song H, Southey MC, Spurdle AB, Sutphen R, Swerdlow AJ, Teixeira MR, Teo SH, Thomassen M, Tischkowitz M, Toland AE, Trichopoulou A, Tung N, Tworoger SS, van Rensburg EJ, Vanderstichele A, Vega A, Velez Edwards D, Webb PM, Weitzel JN, Wentzensen N, White E, Wolk A, Wu AH, Yannoukakos D, Zorn KK, Gayther SA, Antoniou AC, Berchuck A, Goode EL, Chenevix-Trench G, Sellers TA, Pharoah PDP, Zheng W, Long J (2018). A transcriptome-wide association study among 97,898 women to identify candidate susceptibility genes for epithelial ovarian cancer risk. Cancer Res 78, 5419-5430. CNIO Publication.
Remacha L, Currás-Freixes M, Torres-Ruiz R, Schiavi F, Torres-Pérez R, Calsina B, Letón R, Comino-Méndez I, Roldán-Romero JM, Montero-Conde C, Santos M, Pérez LI, Pita G, Alonso MR, Honrado E, Pedrinaci S, Crespo-Facorro B, Percesepe A, Falcioni M, Rodríguez-Perales S, Korpershoek E, Ramón-Maiques S, Opocher G, Rodríguez-Antona C, Robledo M, Cascón A (2018). Gain-of-function mutations in DNMT3A in patients with paraganglioma. Genet Med 20, 1644-1651. CNIO Publication.
Santos M, Niemi M, Hiratsuka M, Kumondai M, Ingelman-Sundberg M, Lauschke VM, Rodríguez-Antona C (2018). Novel copy-number variations in pharmacogenes contribute to interindividual differences in drug pharmacokinetics. Genet Med 20, 622-629. CNIO Publication.
Maroto P, Anguera G, Roldan-Romero JM, Apellániz-Ruiz M, Algaba F, Boonman J, Nellist M, Montero-Conde C, Cascón A, Robledo M, Rodríguez-Antona C (2018). Biallelic TSC2 mutations in a patient with chromophobe renal cell carcinoma showing extraordinary response to temsirolimus. J Natl Compr Canc Netw 16, 352-358. CNIO Publication.
Evenepoel L et al. (incl. Robledo M) (2018). Expression of contactin 4 is associated with malignant behavior in pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 103, 46-55. CNIO Publication.
Gieldon L, Masjkur JR, Richter S, Därr R, Lahera M, Aust D, Zeugner S, Rump A, Hackmann K, Tzschach A, Januszewicz A, Prejbisz A, Eisenhofer G, Schrock E, Robledo M, Klink B (2018). Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1. Eur J Endocrinol 178, K1-K9. CNIO Publication.
Klein Hesselink EN, Zafon C, Villalmanzo N, Iglesias C, van Hemel BM, Klein Hesselink MS, Montero-Conde C, Buj R, Mauricio D, Peinado MA, Puig-Domingo M, Riesco-Eizaguirre G, Reverter JL, Robledo M, Links TP, Jordà M (2018). Increased global DNA hypomethylation in distant metastatic and dedifferentiated thyroid cancer. J Clin Endocrinol Metab 103, 397-406. CNIO Publication.
Eijkelenkamp K, Olderode-Berends MJW, van der Luijt RB, Robledo M, van Dooren M, Feelders RA, de Vries J, Kerstens MN, Links TP, van der Horst-Schrivers ANA (2018). Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas. Clin Genet 93, 1049-1056. CNIO Publication.
Molatore S, Kügler A, Irmler M, Wiedemann T, Neff F, Feuchtinger A, Beckers J, Robledo M, Roncaroli F, Pellegata NS (2018). Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinoma. Endocr-Relat Cancer 25, 145-162. CNIO Publication.
Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Triviño JC, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Rodríguez Moreno JF, Fernández Aramburo A, López C, Maroto P, Sastre J, Juan Fita MJ, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, Autran AM, Benítez J (2018). Whole Exome Sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. Int J Cancer 143, 1954-1962. CNIO Publication.
Espinosa M, Roldán-Romero JM, Duran I, de Álava E, Apellaniz-Ruiz M, Cascón A, Garrigos C, Robledo M, Rodriguez-Antona C (2018). Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation. Bmc Cancer 18, 561. CNIO Publication. Open Access
Gómez-Bravo MA, Apellaniz-Ruiz M, Salcedo M, Fondevila C, Suarez F, Castellote J, Rufian S, Pons JA, Bilbao I, Alamo JM, Millán O, Brunet M, Rodríguez-Antona C (2018). Influence of donor liver CYP3A4*20 loss-of-function genotype on tacrolimus pharmacokinetics in transplanted patients. Pharmacogenet Genomics 28, 41-48. CNIO Publication.
Rogowski-Lehmann N, Geroula A, Prejbisz A, Timmers HJLM, Megerle F, Robledo M, Fassnacht M, Fliedner S, Reincke M, Stell A, Januszewicz A, Lenders J, Eisenhofer G, Beuschlein F (2018). Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging. ENDOCR CONNECT (in press). CNIO Publication. Open Access
Soto JL, Blanco I, Díez O, García Planells J, Lorda I, Matthijs G, Robledo M, Souche E, Lázaro C (2018). Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer. Med Clin-Barcelona 151, 80. CNIO Publication.