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Recursos del IIER
Diagnóstico genético
Diagnóstico Retinoblastoma
Diagnóstico Déficit de alfa-1 antitripsina
Diagnóstico genético de Epidermólisis Bullosa
Diagnóstico Programa Casos No Diagnosticados (SpainUDP)
Diagnóstico de tumores de ovario de células de la granulosa
Publicaciones destacadas
The EGFR-TMEM167A-p53 Axis Defines the Aggressiveness of Gliomas. Cancers (Basel). 2020;12(1):208. Citas†: 14
Segura-Collar B, Gargini R, Tovar-Ambel E, Hérnandez-SanMiguel E, Epifano C, Pérez de Castro I, Hernández-Lain A, Casas-Tintó S, Sánchez-Gómez P.
DOIConsequences of Lmna Exon 4 Mutations in Myoblast Function. Cells 2020, 9, 1286.
Gómez-Domínguez, D.; Epifano, C.; de Miguel, F.; Castaño, A.G.; Vilaplana-Martí, B.; Martín, A.; Amarilla-Quintana, S.; Bertrand, A.T.; Bonne, G.; Ramón-Azcón, J.; Rodríguez-Milla, M.A.; Pérez de Castro, I.
DOIMitochondrial RNA methyltransferase TRMT61B is a new, potential aneuploidy biomarker and therapeutic target for unstable cancers. Cell Death and Differentiation, 2022, 30(1): 37-53
Martín A, Vilaplana-Martí B, Macías RIR, Martínez-Ramírez A, Cerezo A, Cabezas-Sainz P, Garranzo Asensio M, Epifano C, Amarilla S, Gómez-Domínguez D, Hernández I, Caleiras E, Camps J, Barderas R, Sánchez L, Velasco S, Pérez de Castro I.
DOIOpen label phase II clinical trial of ketoconazole as CYP17 inhibitor in metastatic or advanced non-resectable granulosa cell ovarian tumors.The GREKO (GRanulosa Et KetOconazole) trial. GETHI 2011-03. Clinical and Translational Oncology, 2023
García-Donas J, Hurtado A, Garrigos L, Santaballa A, Redondo A, Vidal L, Lainez N, Guerra E, Rodríguez V, Cueva J, Bover I, Palacio I, Rubio MJ, Prieto M, López-Guerrero JA, Rodríguez-Moreno JF, García-Casado Z, García-Martínez E, Taus A, Pérez de Castro I, Navarro P, Grande E.
DOICRISPR targeting of FOXL2 c.402C>G mutation reduces malignant phenotype in granulosa tumor cells and identifies anti-tumoral compounds. bioRxiv, 2024.07.01.601520
Amarilla-Quintana S, Navarro P, Ramos A, Montero-Calle A, Cabezas-Sainz P, Barrero MJ, Megias D, Vilaplana-Marti B, Epifano C, Gomez-Dominguez D, Hernandez I, Monzon S, Cuesta I, Sanchez L, Barderas R, Garcia-Donas J, Alberto Martin, Pérez de Castro I.
DOILaura Hidalgo, Beatriz Somovilla-Crespo, Patricia Garcia-Rodriguez, Alvaro Morales Molina, Miguel Angel Rodriguez-Milla, Javier Garcia-Castro. Switchable CAR T cell strategy against osteosarcoma. Cancer Immunol Immunother. 2023 Aug;72(8):2623-2633.
Laura Hidalgo, Beatriz Somovilla-Crespo, Patricia Garcia-Rodriguez, Alvaro Morales Molina, Miguel Angel Rodriguez-Milla, Javier Garcia-Castro. Switchable CAR T cell strategy against osteosarcoma. Cancer Immunol Immunother. 2023 Aug;72(8):2623-2633.
PUBMED DOIAlvaro Morales-Molina, Miguel Ángel Rodriguez-Milla, Stefano Gambera, Teresa Cejalvo, Belén de Andrés, María-Luisa Gaspar, Javier García-Castro. Toll-like Receptor Signaling-deficient Cells Enhance Antitumor Activity of Cell-basedImmunotherapy by Increasing Tumor Homing. Cancer Res Commun. 2023 Mar 1;3(3):347-360.
Alvaro Morales-Molina, Miguel Ángel Rodriguez-Milla, Stefano Gambera, Teresa Cejalvo, Belén de Andrés, María-Luisa Gaspar, Javier García-Castro. Toll-like Receptor Signaling-deficient Cells Enhance Antitumor Activity of Cell-basedImmunotherapy by Increasing Tumor Homing. Cancer Res Commun. 2023 Mar 1;3(3):347-360.
PUBMED DOIAna Cloquell, Isidro Mateo, Stefano Gambera, Martí Pumarola, Ramón Alemany, Javier Garcia-Castro, Judith Perisé-Barrios. Systemic cellular viroimmunotherapy for canine high-grade gliomas. J Immunother Cancer. 2022 Dec;10(12): e005669.
Ana Cloquell, Isidro Mateo, Stefano Gambera, Martí Pumarola, Ramón Alemany, Javier Garcia-Castro, Judith Perisé-Barrios. Systemic cellular viroimmunotherapy for canine high-grade gliomas. J Immunother Cancer. 2022 Dec;10(12): e005669.
PUBMED DOIClara Martín-Carrasco, Pablo Delgado-Bonet, Beatriz Davinia Tomeo-Martín, Josep Pastor, Claudia de la Riva, Paula Palau-Concejo, Noemí del Castillo, Javier García-Castro, Ana Judith Perisé-Barrios. Safety and Efficacy of an Oncolytic Adenovirus as an Immunotherapy for Canine Cancer Patients. Vet Sci. 2022 Jul; 9(7): 327
Clara Martín-Carrasco, Pablo Delgado-Bonet, Beatriz Davinia Tomeo-Martín, Josep Pastor, Claudia de la Riva, Paula Palau-Concejo, Noemí del Castillo, Javier García-Castro, Ana Judith Perisé-Barrios. Safety and Efficacy of an Oncolytic Adenovirus as an Immunotherapy for Canine Cancer Patients. Vet Sci. 2022 Jul; 9(7): 327
PUBMED DOIMarion Rabé, Lucie Fonteneau, Lisa Oliver, Alvaro Morales-Molina, Camille Jubelin, Javier Garcia-Castro, Dominique Heymann, Catherine Gratas, François M. Vallette. Cellular Heterogeneity and Cooperativity in Glioma Persister Cells Under Temozolomide Treatment Frontiers in Cell and Developmental Biology. 2022, 10; 835273.
Marion Rabé, Lucie Fonteneau, Lisa Oliver, Alvaro Morales-Molina, Camille Jubelin, Javier Garcia-Castro, Dominique Heymann, Catherine Gratas, François M. Vallette. Cellular Heterogeneity and Cooperativity in Glioma Persister Cells Under Temozolomide Treatment Frontiers in Cell and Developmental Biology. 2022, 10; 835273.
PUBMED DOIAlvaro Morales-Molina, Stefano Gambera, Angela Leo, Javier García-Castro Combination immunotherapy using G-CSF and oncolytic virotherapy reduces tumor growth in osteosarcoma. J Immunother Cancer. 2021 Mar;9(3): e001703.
Alvaro Morales-Molina, Stefano Gambera, Angela Leo, Javier García-Castro Combination immunotherapy using G-CSF and oncolytic virotherapy reduces tumor growth in osteosarcoma. J Immunother Cancer. 2021 Mar;9(3): e001703.
PUBMED DOIGambera S, Patiño-Garcia A, Alfranca A, Garcia-Castro J RGB-Marking to Identify Patterns of Selection and Neutral Evolution in Human Osteosarcoma Models. Cancers . 2021 Apr 21;13(9):2003.
Gambera S, Patiño-Garcia A, Alfranca A, Garcia-Castro J RGB-Marking to Identify Patterns of Selection and Neutral Evolution in Human Osteosarcoma Models. Cancers . 2021 Apr 21;13(9):2003.
PUBMED DOIHermida-Prieto M., García-Castro J., Mariñas-Pardo L. Systemic treatment of immune-mediated keratoconjunctivitis sicca with allogeneic stem cells improves the schirmer tear test score in a canine spontaneous model of disease. Journal of Clinical Medicine. 2021; 10(24): 5981.
Hermida-Prieto M., García-Castro J., Mariñas-Pardo L. Systemic treatment of immune-mediated keratoconjunctivitis sicca with allogeneic stem cells improves the schirmer tear test score in a canine spontaneous model of disease. Journal of Clinical Medicine. 2021; 10(24): 5981.
PUBMED DOIMiguel Ángel Rodríguez-Milla, Alvaro Morales-Molina, Ana Judith Perisé-Barrios, Teresa Cejalvo, Javier García-Castro. AKT and JUN are differentially activated in mesenchymal stem cells after infection with human and canine oncolytic adenoviruses. Cancer Gene Therapy, 2021, 28, 64–73.
Miguel Ángel Rodríguez-Milla, Alvaro Morales-Molina, Ana Judith Perisé-Barrios, Teresa Cejalvo, Javier García-Castro. AKT and JUN are differentially activated in mesenchymal stem cells after infection with human and canine oncolytic adenoviruses. Cancer Gene Therapy, 2021, 28, 64–73.
PUBMED DOIAna Judith Perisé-Barrios, Beatriz Davinia Tomeo-Martín, Pablo Gómez-Ochoa, Pablo Delgado-Bonet, Pedro Plaza, Paula Palau-Concejo, Jorge González, Gustavo Ortiz-Díez, Antonio Meléndez-Lazo, Michaela Gentil, Javier García-Castro, Alicia Barbero-Fernández. Humoral responses to SARS-CoV-2 by healthy and sick dogs during the COVID-19 pandemic in Spain. Vet Res. 2021 Feb 15;52(1):22.4
Ana Judith Perisé-Barrios, Beatriz Davinia Tomeo-Martín, Pablo Gómez-Ochoa, Pablo Delgado-Bonet, Pedro Plaza, Paula Palau-Concejo, Jorge González, Gustavo Ortiz-Díez, Antonio Meléndez-Lazo, Michaela Gentil, Javier García-Castro, Alicia Barbero-Fernández. Humoral responses to SARS-CoV-2 by healthy and sick dogs during the COVID-19 pandemic in Spain. Vet Res. 2021 Feb 15;52(1):22.4
PUBMED DOIDavid Ruano, José A. López-Martín, Lucas Moreno, Álvaro Lassaletta, Francisco Bautista, Maitane Andión, Carmen Hernández, África González-Murillo, Gustavo Melen, Ramón Alemany, Luis Madero, Javier García-Castro, Manuel Ramírez First-in-Human, First-in-Child Trial of Autologous MSCs Carrying the Oncolytic Virus Icovir-5 in Patients with Advanced Tumors Mol Ther. 2020 Apr 8; 28(4): 1033–1042.
David Ruano, José A. López-Martín, Lucas Moreno, Álvaro Lassaletta, Francisco Bautista, Maitane Andión, Carmen Hernández, África González-Murillo, Gustavo Melen, Ramón Alemany, Luis Madero, Javier García-Castro, Manuel Ramírez First-in-Human, First-in-Child Trial of Autologous MSCs Carrying the Oncolytic Virus Icovir-5 in Patients with Advanced Tumors Mol Ther. 2020 Apr 8; 28(4): 1033–1042.
PUBMED DOIThomas GP Grünewald, Marta Alonso, Sofia Avnet, Ana Banito, Stefan Burdach, Florencia Cidre‐Aranaz,Gemma Di Pompo, Martin Distel, Heathcliff Dorado‐Garcia, Javier Garcia‐Castro, Laura González‐González, Agamemnon E Grigoriadis, Merve Kasan, Christian Koelsche, Manuela Krumbholz, Fernando Lecanda, Silvia Lemma, Dario L Longo, Claudia Madrigal‐Esquivel, Álvaro Morales‐Molina, Julian Musa, Shunya Ohmura, Benjamin Ory, Miguel Pereira‐Silva, Francesca Perut, Rene Rodriguez, Carolin Seeling, Nada Al Shaaili, Shabnam Shaabani, Kristina Shiavone, Snehadri Sinha, Eleni M Tomazou, Marcel Trautmann, Maria Vela,Yvonne MH Versleijen‐Jonkers, Julia Visgauss, Marta Zalacain, Sebastian J Schober, Andrej Lissat, William R English, Nicola Baldini, Dominique Heymann. Sarcoma treatment in the era of molecular medicine EMBO Mol Med 2020; 12(11):e11131.
Thomas GP Grünewald, Marta Alonso, Sofia Avnet, Ana Banito, Stefan Burdach, Florencia Cidre‐Aranaz,Gemma Di Pompo, Martin Distel, Heathcliff Dorado‐Garcia, Javier Garcia‐Castro, Laura González‐González, Agamemnon E Grigoriadis, Merve Kasan, Christian Koelsche, Manuela Krumbholz, Fernando Lecanda, Silvia Lemma, Dario L Longo, Claudia Madrigal‐Esquivel, Álvaro Morales‐Molina, Julian Musa, Shunya Ohmura, Benjamin Ory, Miguel Pereira‐Silva, Francesca Perut, Rene Rodriguez, Carolin Seeling, Nada Al Shaaili, Shabnam Shaabani, Kristina Shiavone, Snehadri Sinha, Eleni M Tomazou, Marcel Trautmann, Maria Vela,Yvonne MH Versleijen‐Jonkers, Julia Visgauss, Marta Zalacain, Sebastian J Schober, Andrej Lissat, William R English, Nicola Baldini, Dominique Heymann. Sarcoma treatment in the era of molecular medicine EMBO Mol Med 2020; 12(11):e11131.
PUBMED DOIAlvaro Morales-Molina, Miguel Ángel Rodríguez-Milla, Alicia Gimenez-Sanchez, Ana Judith Perisé-Barrios, Javier García-Castro. Cellular Virotherapy Increases Tumor-Infiltrating Lymphocytes (TIL) and Decreases their PD-1+ Subsets in Mouse Immunocompetent Models Cancers 2020 Jul; 12(7): 1920.
Alvaro Morales-Molina, Miguel Ángel Rodríguez-Milla, Alicia Gimenez-Sanchez, Ana Judith Perisé-Barrios, Javier García-Castro. Cellular Virotherapy Increases Tumor-Infiltrating Lymphocytes (TIL) and Decreases their PD-1+ Subsets in Mouse Immunocompetent Models Cancers 2020 Jul; 12(7): 1920.
PUBMED DOIAna Gómez, David Sardón, Teresa Cejalvo, Fernando Vázquez, Javier García-Castro, Ana Judith Perisé-Barrios. Biodistribution Analysis of Oncolytic Adenoviruses in Canine Patient Necropsy Samples Treated with Cellular Virotherapy Molecular Therapy: Oncolytics Vol. 18 September 2020: 525-534.
Ana Gómez, David Sardón, Teresa Cejalvo, Fernando Vázquez, Javier García-Castro, Ana Judith Perisé-Barrios. Biodistribution Analysis of Oncolytic Adenoviruses in Canine Patient Necropsy Samples Treated with Cellular Virotherapy Molecular Therapy: Oncolytics Vol. 18 September 2020: 525-534.
PUBMED DOIJiménez-García L, Higueras MÁ, Herranz S, Hernández-López M, Luque A, de Las Heras B, Hortelano S. A hispanolone-derived diterpenoid inhibits M2-Macrophage polarization in vitro via JAK/STAT and attenuates chitin induced inflammation in vivo. Biochem Pharmacol. 2018 Aug;154:373-383
Jiménez-García L, Higueras MÁ, Herranz S, Hernández-López M, Luque A, de Las Heras B, Hortelano S. A hispanolone-derived diterpenoid inhibits M2-Macrophage polarization in vitro via JAK/STAT and attenuates chitin induced inflammation in vivo. Biochem Pharmacol. 2018 Aug;154:373-383
PUBMED DOIJiménez-García L, Herranz S, Higueras MA, Luque A, Hortelano S. Tumor suppressor ARF regulates tissue microenvironment and tumor growth through modulation of macrophage polarization. Oncotarget. 2016 Oct 11;7(41):66835-66850.
Jiménez-García L, Herranz S, Higueras MA, Luque A, Hortelano S. Tumor suppressor ARF regulates tissue microenvironment and tumor growth through modulation of macrophage polarization. Oncotarget. 2016 Oct 11;7(41):66835-66850.
PUBMED DOIJiménez-García L, Través PG, López-Fontal R, Herranz S, Higueras MA, de Las Heras B, Hortelano S, Luque A. 8,9-Dehydrohispanolone-15,16-lactol diterpene prevents LPS-triggered inflammatory responses by inhibiting endothelial activation. Biochem J. 2016 Jul 15;473(14):2061-71.
Jiménez-García L, Través PG, López-Fontal R, Herranz S, Higueras MA, de Las Heras B, Hortelano S, Luque A. 8,9-Dehydrohispanolone-15,16-lactol diterpene prevents LPS-triggered inflammatory responses by inhibiting endothelial activation. Biochem J. 2016 Jul 15;473(14):2061-71.
PUBMED DOIGarcía-Quintans N, Prieto I, Sánchez-Ramos C, Luque A, Arza E, Olmos Y, Monsalve M. Regulation of endothelial dynamics by PGC-1α relies on ROS control of VEGF-A signaling. Free Radic Biol Med. 2016 Apr;93:41-51
García-Quintans N, Prieto I, Sánchez-Ramos C, Luque A, Arza E, Olmos Y, Monsalve M. Regulation of endothelial dynamics by PGC-1α relies on ROS control of VEGF-A signaling. Free Radic Biol Med. 2016 Apr;93:41-51
PUBMED DOIAbós B, Wang T, Castro R, Granja AG, Leal E, Havixbeck J, Luque A, Barreda DR, Secombes CJ, Tafalla C. Distinct Differentiation Programs Triggered by IL-6 and LPS in Teleost IgM(+) B Cells in The Absence of Germinal Centers. Sci Rep. 2016 Aug 2;6:30004
Abós B, Wang T, Castro R, Granja AG, Leal E, Havixbeck J, Luque A, Barreda DR, Secombes CJ, Tafalla C. Distinct Differentiation Programs Triggered by IL-6 and LPS in Teleost IgM(+) B Cells in The Absence of Germinal Centers. Sci Rep. 2016 Aug 2;6:30004
PUBMED DOIMaría Luisa Franco, Cristina Melero, Esther Sarasola, Alfonso Luque, María García-Barcina and Marçal Vilar. Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Mutation-Dependent Misfolding, Aggregation and Cell Death. J Biol Chem. 2016 Aug 22. pii: jbc.M116.722587
María Luisa Franco, Cristina Melero, Esther Sarasola, Alfonso Luque, María García-Barcina and Marçal Vilar. Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Mutation-Dependent Misfolding, Aggregation and Cell Death. J Biol Chem. 2016 Aug 22. pii: jbc.M116.722587
PUBMED DOIα-Hispanolol sensitizes hepatocellular carcinoma cells to TRAIL-induced apoptosis via death receptor up-regulation. Mota A, Jiménez-Garcia L, Herránz S, de Las Heras B, Hortelano S. Toxicol Appl Pharmacol. 2015 Aug 1;286(3):168-77.
α-Hispanolol sensitizes hepatocellular carcinoma cells to TRAIL-induced apoptosis via death receptor up-regulation. Mota A, Jiménez-Garcia L, Herránz S, de Las Heras B, Hortelano S. Toxicol Appl Pharmacol. 2015 Aug 1;286(3):168-77.
PUBMED DOICritical role of p38 MAPK in IL-4-induced alternative activation of peritoneal macrophages. Jiménez-Garcia L, Herránz S, Luque A, Hortelano S. Eur J Immunol. 2015 Jan;45(1):273-86
Critical role of p38 MAPK in IL-4-induced alternative activation of peritoneal macrophages. Jiménez-Garcia L, Herránz S, Luque A, Hortelano S. Eur J Immunol. 2015 Jan;45(1):273-86
PUBMED DOIIL10 released by a new inflammation-regulated lentiviral system efficiently attenuates zymosan-induced arthritis. Garaulet G, Alfranca A, Torrente M, Escolano A, López-Fontal R, Hortelano S, Redondo JM, Rodríguez A. Mol Ther. 2013 Jan;21(1):119-30.
IL10 released by a new inflammation-regulated lentiviral system efficiently attenuates zymosan-induced arthritis. Garaulet G, Alfranca A, Torrente M, Escolano A, López-Fontal R, Hortelano S, Redondo JM, Rodríguez A. Mol Ther. 2013 Jan;21(1):119-30.
PUBMED DOICritical role of the death receptor pathway in the antitumoral effects induced by hispanolone derivatives. Través PG, López-Fontal R, Cuadrado I, Luque A, Boscá L, de las Heras B, Hortelano S. Oncogene. 2013 Jan 10;32(2):259-68.
Critical role of the death receptor pathway in the antitumoral effects induced by hispanolone derivatives. Través PG, López-Fontal R, Cuadrado I, Luque A, Boscá L, de las Heras B, Hortelano S. Oncogene. 2013 Jan 10;32(2):259-68.
PUBMED DOIDNA Methylomes Reveal Biological Networks Involved in Human Eye Development, Functions and Associated Disorders. Sci Rep. (2017) 7(1):11762.
Berdasco M, Gómez A, Rubio MJ, Català-Mora J, Zanón-Moreno V, Lopez M, Hernández C, Yoshida S, Nakama T, Ishikawa K, Ishibashi T, Boubekeur AM, Louhibi L, Pujana MA, Sayols S, Setien F, Corella D, de Torres C, Parareda A, Mora J, Zhao L, Zhang K, Lleonart ME, Alonso J, Simó R, Caminal JM, Esteller M.
PUBMED DOISequential ligand-dependent Notch signaling activation regulates valve primordium formation and morphogenesis. 2016. Circulation Research. 118 (10): 1480-1497.
MacGrogan D., D´Amato G., Travisano S., Martinez-Poveda B., Luxán G., del Monte-Nieto G., Papoutsi T., Sbroggio M., Bou V., Gómez-del Arco P., Gómez M.J., Zhou B., Redondo J.M., Jiménez-Borreguero L.J., de la Pompa J.L.
PUBMED DOICREBBP/EP300 bromodomain inhibition affects the proliferation of AR positive breast cancer cell lines. (2019) Molecular Cancer Research. 17 (3): 720–730.
Garcia-Carpizo V, Ruiz-Llorente S, Sarmentero J, Gonzalez-Corpas A and Barrero MJ.
DOICREBBP/EP300 bromodomains are critical to sustain the GATA1/MYC regulatory axis in proliferation. (2018) Epigenetics and Chromatin 11:30.
Garcia-Carpizo V, Ruiz-Llorente S, Sarmentero J, Graña O, Pisano DG and Barrero MJ.
DOIMacro Histone Variants are Critical for the Differentiation of Human Pluripotent Cells. (2013) Journal of Biological Chemistry. 288(22):16110-6.
Barrero MJ, Sese B, Marti M and Izpisua Belmonte JC.
DOIMediator-regulated transcription through the +1 nucleosome. (2012) Molecular Cell. 48(6):837-48.
Nock A, Ascano JA, Barrero MJ and Malik S.
DOIEWS-FLI1-mediated suppression of the RAS-antagonist Sprouty 1 (SPRY1) confers aggressiveness to Ewing sarcoma. Oncogene (2017) 36(6):766-776.
Cidre-Aranaz F, Grünewald TG, Surdez D, García-García L, Carlos Lázaro J, Kirchner T, González-González L, Sastre A, García-Miguel P, López-Pérez SE, Monzón S, Delattre O, Alonso J.
PUBMED DOIFamilial retinoblastoma due to intronic LINE-1 insertion causes aberrant and non-canonical mRNA splicing of the RB1 gene. J Hum Genet (2016) 61(5):463-6.
Rodríguez-Martín C., Cidre-Aranaz F., Fernández-Teijeiro A., Gómez-Mariano G., de la Vega L., Ramos P., Zaballos A., Monzón S., Alonso J.
PUBMED DOINSD2 contributes to oncogenic RAS-driven transcription in lung cancer cells through long-range epigenetic activation. (2016) Scientific Reports. 6:32952.
Garcia-Carpizo V, Sarmentero J, Han B, Graña O, Ruiz-Llorente S, Pisano DG, Serrano M, Brooks HB, Campbell RM, Barrero MJ.
DOIChimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA-microsatellite. Nature Genetics (2015) 47(9):1073-8.
Grünewald T.G.P., Bernard V., Gilardi-Hebenstreit P., Raynal V., Surdez D., Aynaud M.M., Mirabeau O., Cidre-Aranaz F., Tirode F., Zaidi S., Perot G., Jonker A.H., Lucchesi C., Le Deley M.C., Oberlin O., Marec-Bérard P., Véron A.S., Reynaud S., Lapouble E., Boeva V., Frio T.R, Alonso J., Bhatia S., Pierron G., Cancel-Tassin G., Cussenot O., Cox D.G., Morton L.M., Machiela M., Chanock S.J., Charnay P., Delattre O.
PUBMED DOISelective inhibition of plasma membrane calcium ATPase4 improves angiogénesis and vascular reperfusion. 2017. J. Mol. Cell. Cardiol. 109: 38-47.
Kurusamy S., López-Maderuelo D., Little R., Cadagan D., Savage A.M., Ihugba J.C., Baggott RR, Rowther FB., Martínez-Martínez S, Gómez-del Arco P., Murcott C., Wang W., Nistal F.J., Oceandy D, Neyses L, Wilkinson R.N., Cartwright EJ, Redondo J.M. and A.L. Armesilla.
PUBMED DOIMAZ induces MYB expression during the exit from quiescence via the E2F site in the MYB promoter. 2017. Nucleic Acids Research. 45 (17): 9960-9975.
Alvaro-Blanco J., Urso K., Chiodo Y., Martín-Cortázar C., Kourani O., Gómez-del Arco P., Rodríguez-Martínez M., Calonge E., Alcamí J., Redondo JM., Iglesias T., and MR. Campanero.
PUBMED DOIAlternative promoter usage at the Notch1 locus supports ligand-independent signaling in T cell development and leukemogenesis. 2010. Immunity. 33(5): 685-698.
Pablo Gómez-del Arco, Mariko Kashiwagi, Audrey F. Jackson, Taku Naito, Jiangwen Zhang, Feifei Liu, Barbara Kee, Marc Vooijs, Freddy Radtke, Juan Miguel Redondo and Katia Georgopoulos.
PUBMED DOISETD7 Regulates the Differentiation of Human Embryonic Stem Cells. (2016) PLoS One. 11(2): e0149502.
Castaño J, Morera C, Sesé B, Boue S, Bonet-Costa C, Martí M, Roque A, Jordan A, Barrero MJ.
DOIMacro Histone Variants Preserve Cell Identity by Preventing the Gain of H3K4me2 during Reprogramming to Pluripotency. (2013) Cell Reports 3, 1005–1011.
Barrero MJ, Sese B, Kuebler B, Bilic J, Boue S, Martí M, Belmonte JC.
DOIAlu-repeat mediated regulation of DIEXF expression in cell differentiation and cancer. (2020) Epigenetics 15(6-7):765-779.
Martín B, Pappa S. Díez-Villanueva A, Mallona I, Custodio J, Barrero MJ, Peinado MA, Jordà M.
DOIThe Chromatin Remodeling Complex Chd4/NuRD controls striated muscle identity and metabolic homeostasis. 2016. Cell Metabolism. 23: 881-892.
Gómez-del Arco P*., Perdiguero E., Yunes-Leites P.S., Acín-Pérez R., Zeini M., García-Gómez A., Sreenivasan K., Jiménez-Alcázar M., Segalés J., López-Maderuelo D., Ornés B., Jiménez-Borreguero L.J., D´Amato G., Enshell-Seijffers D., Morgan B., Georgopoulos K., Islam AbuL B.M.M.K., Braun T., de la Pompa J.L., Kim J., Enriquez J.A., Ballestar E,, Muñoz-Cánoves P. and Redondo J.M*. *corresponding authors.
PUBMED DOIPlasma membrane calcium ATPase isoform 4 inhibits vascular endothelial growth factor-mediated angiogenesis through interaction with calcineurin. 2014. Arterioscler. Thromb. Vasc. Biol. Volumen: 34: 2310-2320.
Baggott RR, Alfranca A, López-Maderuelo D, Mohamed TM, Escolano A, Oller J, Ornes BC, Kurusamy S, Rowther FB, Brown JE, Oceandy D, Cartwright EJ, Wang W, Gómez-del Arco P, Martínez-Martínez S., Neyses L, Redondo JM, Armesilla AL.
PUBMED DOIA personalized medicine approach identifies enasidenib as an efficient treatment for IDH2 mutant chondrosarcoma. EBioMedicine. (2024) 102:105090
Rey V, Tornín J, Alba-Linares JJ, Robledo C, Murillo D, Rodríguez A, Gallego B, Huergo C, Viera C, Braña A, Astudillo A, Heymann D, Szuhai K, Bovée JVMG, Fernández AF, Fraga MF, Alonso J, Rodríguez R.
PUBMEDNAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences.
Perez-Luz S, Matamala N, Gomez-Mariano G, Janciauskiene S, Martínez-Delgado B. NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences. Biomedicines. 2023 Jul 12;11(7).
PUBMED DOILoss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways
Meghadri SH, Martinez-Delgado B, Ostermann L, Gomez-Mariano G, Perez-Luz S, Tumpara S, Wrenger S, DeLuca DS, Maus UA, Welte T, Janciauskiene S. Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways. Int J Mol Sci. 2022 Sep 9;23(18).
PUBMED DOIMice inflammatory responses to inhaled aerosolized LPS: effects of various forms of human alpha1-antitrypsin
Sivaraman K, Wrenger S, Liu B, Schaudien D, Hesse C, Gomez-Mariano G, Perez-Luz S, Sewald K, DeLuca D, Wurm MJ, Pino P, Welte T, Martinez-Delgado B, Janciauskiene S. Mice inflammatory responses to inhaled aerosolized LPS: effects of various forms of human alpha1-antitrypsin. J Leukoc Biol. 2023 Jan 10;113(1):58-70.
PUBMED DOIQuantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.
Pérez-Luz S, Lalchandani J, Matamala N, Barrero MJ, Gil-Martín S, Saz SR, Varona S, Monzón S, Cuesta I, Justo I, Marcacuzco A, Hierro L, Garfia C, Gomez-Mariano G, Janciauskiene S, Martínez-Delgado B. Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin. Int J Mol Sci. 2023 Aug 5;24(15).
PUBMED DOIAcid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G, Perez-Luz S, Ramos-Del Saz S, Matamala N, Hernandez-SanMiguel E, Fernandez-Prieto M, Gil-Martin S, Justo I, Marcacuzco A, Martinez-Delgado B. Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
PUBMED DOImiR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease
Matamala N, Lara B, Gómez-Mariano G, Martínez S, Vázquez-Domínguez I, Otero-Sobrino Á, Muñoz-Callejas A, Sánchez E, Esquinas C, Bustamante A, Cadenas S, Curi S, Lázaro L, Martínez MT, Rodríguez E, Miravitlles M, Torres-Duran M, Herrero I, Michel FJ, Castillo S, Hernández-Pérez JM, Blanco I, Casas F, Martínez-Delgado B. miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease. Arch Bronconeumol. 2021 Jul;57(7):457-463.
PUBMED DOIThe Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B; Solve-RD DITF-EPICARE; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RITA; Solve-RD DITF-RND; Solve-RD consortium; T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H. Nat Genet. 2025 Sep 9. doi: 10.1038/s41588-025-02290-3. Online ahead of print. PMID: 40926087 Review.
PUBMED DOIHeterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.
Cordovado A, Hérenger Y, Cormier C, López-Martín E, Stamberger H, Faivre L, Denommé-Pichon AS, Vitobello A, Abdallah HH, Barcia G, Courtin T, Martínez-Delgado B, Bermejo-Sánchez E, Barrero MJ, Gasser B, Bezieau S, Küry S, Weckhuysen S, Laumonnier F, Toutain A, Vuillaume ML. Hum Mutat. 2025 Mar 5;2025:7085599. doi: 10.1155/humu/7085599. eCollection 2025. PMID: 40226306 Free PMC article.
PUBMED DOI1. The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries
G, Vitobello A, Wilke C, Zurek B; Solve-RD DITF-EPICARE; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RITA; Solve-RD DITF-RND; Solve-RD consortium; T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J, Graessner H.
Nat Genet. 2025 Sep 9. doi: https://doi.org/10.1038/s41588-025-02290-3. Online ahead of print. PMID: https://pubmed.ncbi.nlm.nih.gov/40926087 Review.
2. Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.
Cordovado A, Hérenger Y, Cormier C, López-Martín E, Stamberger H, Faivre L, DenomméPichon AS, Vitobello A, Abdallah HH, Barcia G, Courtin T, Martínez-Delgado B, BermejoSánchez E, Barrero MJ, Gasser B, Bezieau S, Küry S, Weckhuysen S, Laumonnier F, Toutain A, Vuillaume ML.
Hum Mutat. 2025 Mar 5;2025:7085599. doi: https://doi.org/10.1155/humu/7085599. eCollection 2025. PMID: https://pubmed.ncbi.nlm.nih.gov/40226306 Free PMC article.
3. Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.
Gomez-Mariano G, Hernandez-SanMiguel E, Fernandez-Prieto M, Ramos Del Saz S, Baladrón B, Mielu LM, Rivera D, Moneo V, Lopez L, Rodriguez-Martin C, Fernandez-Teijeiro Álvarez A, Sabado C, Bermejo E, Alonso FJ, Martinez-Delgado B.
Exp Eye Res. 2025 Feb;251:110233. doi: https://doi.org/10.1016/j.exer.2025.110233. Epub 2025 Jan 6. PMID: https://pubmed.ncbi.nlm.nih.gov/39778672
4. EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome.
Carvalho LML, Rzasa J, Kerkhof J, McConkey H, Fishman V, Koksharova G, de Lima Jorge AA, Branco EV, de Oliveira DF, Martinez-Delgado B, Barrero MJ, Kleefstra T, Sadikovic B, Haddad LA, Bertola DR, Rosenberg C, Krepischi ACV.
Mol Neurobiol. 2025 May;62(5):5977-5989. doi: https://doi.org/10.1007/s12035-024-04655-x. Epub 2024 Dec 15. PMID: https://pubmed.ncbi.nlm.nih.gov/39674972
5. Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari M, Carr L, Hinttala R, Kurian MA, Uusimaa J. Mov Disord Clin Pract. 2024 Jun;11(6):708-715. doi: https://doi.org/10.1002/mdc3.14051. Epub 2024 May 2. PMID: https://pubmed.ncbi.nlm.nih.gov/38698576 Free PMC article.
6. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, LópezMartín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T,
Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. J Clin Invest. 2023 May 15;133(10):e165019. doi: https://doi.org/10.1172/JCI165019. PMID: https://pubmed.ncbi.nlm.nih.gov/36976648 Free PMC article.
7. Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B.
Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: https://doi.org/10.3390/ijms23169480. PMID: https://pubmed.ncbi.nlm.nih.gov/36012761 Free PMC article.
8. Epigenomic Approaches for the Diagnosis of Rare Diseases.
Martinez-Delgado B, Barrero MJ. Epigenomes. 2022 Jul 27;6(3):21. doi: https://doi.org/10.3390/epigenomes6030021. PMID: https://pubmed.ncbi.nlm.nih.gov/35997367 Free PMC article. Review.
9. miR-320c Regulates SERPINA1 Expression and Is Induced in Patients With Pulmonary Disease.
Matamala N, Lara B, Gómez-Mariano G, Martínez S, Vázquez-Domínguez I, Otero-Sobrino Á, Muñoz-Callejas A, Sánchez E, Esquinas C, Bustamante A, Cadenas S, Curi S, Lázaro L, Martínez MT, Rodríguez E, Miravitlles M, Torres-Duran M, Herrero I, Michel FJ, Castillo S, Hernández-Pérez JM, Blanco I, Casas F, Martínez-Delgado B.Arch Bronconeumol. 2021 Jul;57(7):457-463. doi: https://doi.org/10.1016/j.arbr.2020.03.031. PMID: https://pubmed.ncbi.nlm.nih.gov/35698951
10. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Clin Genet. 2022 May;101(5-6):481-493. doi: https://doi.org/10.1111/cge.14113. Epub 2022 Feb 4. PMID: https://pubmed.ncbi.nlm.nih.gov/35060122 Free PMC article. Review.
11. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, Monzon S, Cuesta I, Juliá M, Aquino V, Rodriguez-Martin C, Damian A, Gonzalo I, Gomez-Mariano G, Baladron B, Cazorla R, Iglesias G, Roman E, Ros P, Tutor P, Mellor S, Jimenez C, Cabrejas MJ, Gonzalez-Vioque E, Alonso J, Bermejo-Sánchez E, Posada M. Am J Med Genet A. 2021 Mar;185(3):877-883. doi: https://doi.org/10.1002/ajmg.a.62017. Epub 2020 Dec 21. PMID: https://pubmed.ncbi.nlm.nih.gov/33346930
12. New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B. Am J Respir Cell Mol Biol. 2020 Oct;63(4):444-451. doi: https://doi.org/10.1165/rcmb.2020-0021OC. PMID: https://pubmed.ncbi.nlm.nih.gov/32515985
13. Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.
Urreizti R, Lopez-Martin E, Martinez-Monseny A, Pujadas M, Castilla-Vallmanya L, PérezJurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan M, Grinberg D, Bermejo-Sánchez E, Balcells S.
Orphanet J Rare Dis. 2020 Feb 10;15(1):44. doi: https:/doi.org/10.1186/s13023-020-1317-9. PMID: https://pubmed.ncbi.nlm.nih.gov/32041641 Free PMC article.
14. SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
López-Martín E, Martínez-Delgado B, Bermejo-Sánchez E, Alonso J; SpainUDP Network; Posada M. Int J Environ Res Public Health. 2018 Aug 14;15(8):1746. doi: https://doi.org/10.3390/ijerph15081746. PMID: https://pubmed.ncbi.nlm.nih.gov/30110963 Free PMC article.
15. Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: https://doi.org/10.1165/rcmb.2017-0179OC. PMID: https://pubmed.ncbi.nlm.nih.gov/29232161
16. Identification of genetic variants in pharmacokinetic genes associated with Ewing Sarcoma treatment outcome.
Ruiz-Pinto S, Pita G, Patiño-García A, García-Miguel P, Alonso J, Pérez-Martínez A, Sastre A, Gómez-Mariano G, Lissat A, Scotlandi K, Serra M, Ladenstein R, Lapouble E, Pierron G, Kontny U, Picci P, Kovar H, Delattre O, González-Neira A.Ann Oncol. 2016 Sep;27(9):1788-93. doi: https://doi.org/10.1093/annonc/mdw234. Epub 2016 Jun 10. PMID: https://pubmed.ncbi.nlm.nih.gov/27287205 Free article.
17. Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene.
Rodríguez-Martín C, Cidre F, Fernández-Teijeiro A, Gómez-Mariano G, de la Vega L, Ramos P, Zaballos Á, Monzón S, Alonso J.
J Hum Genet. 2016 May;61(5):463-6. doi: https://doi.org/10.1038/jhg.2015.173. Epub 2016 Jan 14. PMID: https://pubmed.ncbi.nlm.nih.gov/26763876
18. Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up?
Serrano C, Alonso J, Gómez-Mariano G, Aguirre E, Diez O, Gadea N, Bosch N, Balmaña J, Graña B.Fam Cancer. 2011 Sep;10(3):617-21. doi: https://doi.org/10.1007/s10689-011-9445-y. PMID: https://pubmed.ncbi.nlm.nih.gov/21538077
19. Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis.
Lara B, Blanco I, Martínez MT, Rodríguez E, Bustamante A, Casas F, Cadenas S, Hernández JM, Lázaro L, Torres M, Curi S, Esquinas C, Dasí F, Escribano A, Herrero I, Martínez-Delgado B, Michel FJ, Rodríguez-Frías F, Miravitlles M. Arch Bronconeumol. 2017 Jan;53(1):13-18. doi: https://doi.org/10.1016/j.arbres.2016.05.003. Epub 2016 Jun 17. PMID: https://pubmed.ncbi.nlm.nih.gov/27323654 English, Spanish.
20. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Lara B, Martínez MT, Blanco I, Hernández-Moro C, Velasco EA, Ferrarotti I, Rodriguez-Frias F, Perez L, Vazquez I, Alonso J, Posada M, Martínez-Delgado B. Respir Res. 2014 Oct 7;15(1):125. doi: https://doi.org/10.1186/s12931-014-0125-y. PMID: https://pubmed.ncbi.nlm.nih.gov/25287719 Free PMC article
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Marta Fernández Prieto
Técnico Especializado de OPIS. Colaboradora I+D+I
Código ORCID: 0000-0003-3034-5723
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Lidia Mirela Mielu
Técnico Especializado de OPIS. Colaboradora I+D+I
Código ORCID: 0000-0002-3205-7277
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Esther Hernández San Miguel
Técnico Especializado de OPIS. Colaboradora I+D+I
Código ORCID: 0000-0003-4135-860x
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Beatriz Baladrón Jimenez
Técnico Especializado de OPIS. Colaboradora I+D+I
Código ORCID: 0000-0002-5461-4652
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Daniel Rivera Pinto
Técnico Especializado de OPIS. Colaborador I+D+I
Código ORCID: 0000-0001-7489-7197
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Listado de personal
El Área de Genética Humana (AGH) adscrita al Instituto de Investigación en Enfermedades Raras, cuenta con un Servicio de Diagnóstico Genético en el que se ofertan servicios para el diagnóstico de diferentes enfermedades genéticas. El AGH aporta experiencia en numerosas técnicas de secuenciación masiva y análisis de datos de gran proyección en la recién iniciada era post-genómica.
Beatriz Martínez Delgado Gema Gómez Mariano
bmartinezd@isciii.es ggomezm@isciii.es
Telf: 91 8223152 Telf: 91 8223101