Protegemos tu salud a través de la Ciencia
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
CREBBP/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.
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.
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 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.
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.
DOIMediator-regulated transcription through the +1 nucleosome. (2012) Molecular Cell. 48(6):837-48.
Nock A, Ascano JA, Barrero MJ and Malik S.
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.
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 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 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 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 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 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 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 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 DOILiver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease
Gómez-Mariano G, Matamala N, Martínez S, Justo I, Marcacuzco A, Jimenez C, Monzón S, Cuesta I, Garfia C, Martínez MT, Huch M, Pérez de Castro I, Posada M, Janciauskiene S, Martínez-Delgado B. Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease. Hepatol Int. 2020 Jan;14(1):127-137.
PUBMED DOIToxic oil syndrome: healthrelated quality-of-life assessment using the SF-36 Health Survey. International Journal of Epidemiology, 51(2), 491–500.
DOI
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom Med. 2024 Oct 26;9(1):49
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S.
PUBMED DOIPushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024 Nov;56(11):2287-2294
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD, Wirta V, Lindstrand A, Buske OJ, Cederroth M, Nordgren A.
PUBMED DOICIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative. Clin Genet. 2022 May 10; 1(5-6):481-493
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..
PUBMED DOIPrevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care. Actas Dermosifiliogr. 2013 Dec;104(10):890-6
Hernandez-Martín A, Aranegui B, Escámez MJ, de Lucas R, Vicente A, Rodríguez-Díaz E, Bernabeu-Wittel J, Gonzalez-Hermosa R, García-Patos V, Ginarte M, Mascaró JM Jr, Corredera C, Baselga E, Santiago JL, Chaves A, Román C, Evole M, Martin-Santiago A, Torrelo A, Del Río M, Feito M, Gonzalez-Enseñat MA, Romero G, Morcillo-Makow E, Abaitua I, García-Doval I.
PUBMED DOIOverview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide. Expert Opinion on Orphan Drugs, 4(7), 729–739
López-Martín E, Thompson R, Gainotti S, Wang CM, Rubinstein Y, Taruscio D, Monaco L, Lochmüller H, Alonso-Ferreira V, Posada de la Paz M.
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 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