About the VHIR
Here at the Vall d'Hebron Research Institute (VHIR) we promote biomedical research, innovation and teaching. Over 1,800 people are seeking to understand diseases today so the treatment can be improved tomorrow.
Research
We are working to understand diseases, to find out how they operate and to create better treatments for patients. Get to know about our groups and their lines of research.
People
People are the centre of the Vall d'Hebron Research Institute (VHIR). This is why we are bound by the principles of freedom of research, gender equality and professional attitudes that HRS4R promotes.
Clinical trials
Our work is not just basic or translational; we are leaders in clinical research. Enter and find about the clinical trials we are conducting and why we are a world reference in this field.
Progress
Our aim is to make the research carried out at the Vall d’Hebron Research Institute (VHIR) a driving force for transformation. How? By identifying new channels and solutions for the promotion of people's health and well-being.
Core facilities
We offer specialist support for researchers, internal and external alike, ranging from specific services to preparing complete projects. All this, from a perspective of quality and speed of response.
News
We offer you a gateway for staying up to date on everything going on at the Vall d’Hebron Research Institute (VHIR), from the latest news to future solidarity activities and initiatives that we are organising.
The Genetics Medicine group of the VHIR belongs to the Clinical and Molecular Genetic Area of the Hospital Vall d’Hebron and combines genetic diagnosis and translational research in hereditary diseases and the study of pathologies and malformations during human development.
The group actively works in different consortiums and networks for rare disorders including ERN Ithaca, Cranio, Bond and NMD.
Specific research lines and teams include:
IP: -
IP: Nerea Maiz Elizaran Collaborators: Josefa Élida Vázquez Méndez, Marta Codina Solà, Ma Irene Valenzuela Palafoll, Silvia Arévalo Martínez, Carlota Rodó Rodríguez, Eulàlia Rovira Moreno, David Gómez Andrés, Amaia Lasa Aranzasti, Elena Moreno Perez Funding agency: Fundació La Marató de TV3 Funding: 197000 Reference: 202420-10 Duration: 20/02/2025 - 19/02/2028
IP: Belen Perez Dueñas Collaborators: Marta Codina Solà, Maria Mar Hernandez Guillamon, Anna Rosell Novel, David Gómez Andrés Funding agency: Instituto de Salud Carlos III Funding: 185165.07 Reference: PMPER24/00021 Duration: 01/01/2025 - 31/12/2026
IP: Alberto Plaja Rustein Collaborators: Anna Maria Cueto Gonzalez Funding agency: Instituto de Salud Carlos III Funding: Reference: PMP22/00088 Duration: 01/01/2023 - 31/12/2025
IP: Roger Colobran Oriol Collaborators: Romina Dieli Crimi, Aina Aguiló Cucurull, Laura Batlle Masó, Andrea Martín Nalda, Neus Castells Sarret Funding agency: Instituto de Salud Carlos III Funding: 208750 Reference: PI23/00161 Duration: 01/01/2024 - 31/12/2026
PMID: 39815072 Journal: PRENATAL DIAGNOSIS Year: 2025 Reference: Prenat Diagn. 2025 Jan 15. doi: 10.1002/pd.6746. Impact factor: Publication type: Paper in international publication Authors: Benavent-Bofill, Clara; Blanco, Ignacio; Castells-Sarret, Neus; Cisneros, Adela; Foj, Laura; Lopez-Ortega, Ricard; Mademont-Soler, Irene; Obon, Maria; Plaja, Alberto; Rey, Natalia et al. DOI: 10.1002/pd.6746
PMID: 39833101 Journal: CLINICAL GENETICS Year: 2025 Reference: Clin Genet. 2025 Jan 20. doi: 10.1111/cge.14701. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Ballesta-Martinez, Maria Juliana; Brea-Fernandez, Alejandro J; Casas-Alba, Didac; Codina-Sola, Marta; Costa-Roger, Mar; Cueto-Gonzalez, Anna; Cusco, Ivon; Del Campo, Miguel; Fernandez-Alvarez, Paula et al. DOI: 10.1111/cge.14701
PMID: 39920987 Journal: Year: 2025 Reference: Rev Esp Cardiol (Engl Ed). 2025 Feb 5:S1885-5857(25)00044-1. doi: 10.1016/j.rec.2025.01.011. Impact factor: Publication type: Paper in international publication Authors: Alcala-Lopez, Juan E; Badia-Molins, Clara; Barrabes, Jose A; Barriales-Villa, Roberto; Bayes-Genis, Antoni; Casas, Guillem; Fernandez-Alvarez, Paula; Ferreira-Gonzalez, Ignacio; Garcia-Pavia, Pablo; Gimeno-Blanes, Juan Ramon et al. DOI: 10.1016/j.rec.2025.01.011
PMID: 39976812 Journal: NEUROPSYCHOLOGY REVIEW Year: 2025 Reference: Neuropsychol Rev. 2025 Feb 20. doi: 10.1007/s11065-025-09660-y. Impact factor: Publication type: Paper in international publication Authors: Amayra, Imanol; Garcia, Maitane; Lasa-Aranzasti, Amaia; Pallares-Sastre, Merce; Salgueiro, Monika; Villanueva-Viar, Elena et al. DOI: 10.1007/s11065-025-09660-y
PMID: 38505260 Journal: Frontiers in Cell and Developmental Biology Year: 2024 Reference: Front Cell Dev Biol. 2024 Mar 5;12:1321282. doi: 10.3389/fcell.2024.1321282. eCollection 2024. Impact factor: Publication type: Paper in international publication Authors: Alonso, Xenia; Alonso-Colmenero, Itziar; Bayes, Alex; Camacho, Ana; Camino Leon, Rafael; Campistol Plana, Jaume; Cazorla, Maria Rosario; Cueto-Gonzalez, Anna Ma; Del Castillo-Berges, Diego; Fernandez-Jaen, Alberto et al. DOI: 10.3389/fcell.2024.1321282
PMID: 38678163 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2024 Reference: Eur J Hum Genet. 2024 Apr 27. doi: 10.1038/s41431-024-01610-1. Impact factor: Publication type: Paper in international publication Authors: Angireddy, Rajesh; Au, Billie; Averdunk, Luisa; Balci, Tugce; Barwick, Katy; Baskin, Stephanie; Battault, Clarisse; Baxova, Alica; Bendova, Sarka; Bhoj, Elizabeth J K et al. DOI: 10.1038/s41431-024-01610-1
PMID: 38694681 Journal: Year: 2024 Reference: Cureus. 2024 Apr 1;16(4):e57378. doi: 10.7759/cureus.57378. eCollection 2024 Apr. Impact factor: Publication type: Paper in international publication Authors: Arnedo, Maria; Ayerza-Casas, Ariadna; Gil-Salvador, Marta; Kaiser, Frank J; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Parenti, Ilaria; Pie, Juan; Puisac, Beatriz; Ramos, Feliciano J et al. DOI: 10.7759/cureus.57378
PMID: 38773883 Journal: CLINICAL GENETICS Year: 2024 Reference: Clin Genet. 2024 May 21. doi: 10.1111/cge.14545. Impact factor: Publication type: Paper in international publication Authors: Abouyousef, Omar; Al Abdi, Lama; Aldowaish, Abdullah; Alkuraya, Fowzan S; Campeau, Philippe M; Codina-Sola, Marta; Cueto-Gonzalez, Anna M; Mehrjoo, Yosra; Wurtele, Hugo et al. DOI: 10.1111/cge.14545
PMID: 36271811 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2023 Reference: Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Impact factor: Publication type: Paper in international publication Authors: Abu-Libde, Bassam; Bessenyei, Beata; Chhouk, Brian H; Csaszar, Andrea; Cueto-Gonzalez, Anna Maria; de Brouwer, Arjan P M; Elting, Mariet W; Gabau Vila, Elisabeth; Guitart, Miriam; Hickey, Scott et al. DOI: 10.1002/ajmg.a.63004
PMID: 36565021 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2023 Reference: Am J Med Genet A. 2023 Apr;191(4):941-947. doi: 10.1002/ajmg.a.63099. Epub 2022 Dec 23. Impact factor: Publication type: Paper in international publication Authors: Alvarez, Sara; Brunet, Joan; Camos, Maria; Casellas-Vidal, Dolors; Castells, Neus; Del Mar Garcia, Maria; Mademont-Soler, Irene; Nieto-Moragas, Javier; Obon, Maria; Perapoch, Josep et al. DOI: 10.1002/ajmg.a.63099
PMID: 36560896 Journal: PROTEIN SCIENCE Year: 2023 Reference: Protein Sci. 2023 Apr;32(4):e4553. doi: 10.1002/pro.4553. Impact factor: Publication type: Paper in international publication Authors: Anton, Rosa; Dorca-Arevalo, Jonatan; Estebanez-Perpina, Eva; Fuentes-Prior, Pablo; Nadal, Marta; Tizzano, Eduardo F et al. DOI: 10.1002/pro.4553
PMID: 36544354 Journal: CLINICAL GENETICS Year: 2023 Reference: Clin Genet. 2023 Apr;103(4):492-494. doi: 10.1111/cge.14287. Epub 2022 Dec 28. Impact factor: Publication type: Letter whit IF Authors: Codina-Sola, Marta; Garcia-Arumi, Elena; Juntas-Morales, Raul; Llaurado, Arnau; Lopez-Diego, Veronica; Martinez-Saez, Elena; Restrepo-Vera, Juan Luis; Rovira-Moreno, Eulalia; Salvado, Maria; Sanchez-Tejerina, Daniel et al. DOI: 10.1111/cge.14287
PMID: 36434327 Journal: INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING Year: 2022 Reference: Int J Cardiovasc Imaging. 2022 Nov;38(11):2291-2302. doi: 10.1007/s10554-022-02612-0. Epub 2022 May 19. Impact factor: Publication type: Paper in international publication Authors: Arnedo, Maria; Ascaso, Angela; Ayerza-Casas, Ariadna; Bueno-Lozano, Gloria; Garcia, Gonzalo Gonzalez; Gil-Salvador, Marta; Kaiser, Frank J; Latorre-Pellicer, Ana; Lucia-Campos, Cristina; Pie, Juan et al. DOI: 10.1007/s10554-022-02612-0
PMID: 34096446 Journal: Journal of Maternal-Fetal & Neonatal Medicine Year: 2022 Reference: J Matern Fetal Neonatal Med. 2022 Dec;35(25):7011-7014. doi: 10.1080/14767058.2021.1934444. Epub 2021 Jun 6. Impact factor: Publication type: Paper in international publication Authors: Guillen, Gabriela; Lopez, Manuel; Lopez, Manuel; Lopez-Fernandez, Sergio; Martin Gimenez, Marta; Martos Rodriguez, Marta; Molino, Jose Andres; Ribes, Carmen; Ruiz, Cesar W et al. DOI: 10.1080/14767058.2021.1934444
PMID: 36202811 Journal: Nature Communications Year: 2022 Reference: Nat Commun. 2022 Oct 6;13(1):5902. doi: 10.1038/s41467-022-33530-3. Impact factor: Publication type: Paper in international publication Authors: Abuli, Anna; Becker, Philipp; Brun-Heath, Isabelle; Canevazzi, Davide; Dabad, Marc; Frias-Lopez, Cristina; Garcia-Arumi, Elena; Gut, Ivo Glynne; Gut, Marta; Heath, Simon Charles et al. DOI: 10.1038/s41467-022-33530-3
PMID: 36214804 Journal: GENETICS IN MEDICINE Year: 2022 Reference: Genet Med. 2022 Dec;24(12):2464-2474. doi: 10.1016/j.gim.2022.08.020. Epub 2022 Oct 11. Impact factor: Publication type: Paper in international publication Authors: Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C; Charles, Perrine; Chatron, Nicolas; Cohen, Lior et al. DOI: 10.1016/j.gim.2022.08.020
PMID: 35698963 Journal: ARCHIVOS DE BRONCONEUMOLOGIA Year: 2021 Reference: Arch Bronconeumol. 2021 Jul;57(7):501-503. doi: 10.1016/j.arbr.2020.11.017. Impact factor: Publication type: Letter whit IF Authors: Álvarez, Antonio; Clofent, David; Culebras, Mario; de Gracia, Javier; Fernández-Alvarez, Paula; García Arumí, Elena; Gartner, Silvia; Loor, Karina; Loor, Karina; Polverino, Eva et al. DOI: 10.1016/j.arbres.2020.11.002
PMID: 33985857 Journal: NEUROMUSCULAR DISORDERS Year: 2021 Reference: Neuromuscul Disord. 2021 Jun;31(6):574-582. doi: 10.1016/j.nmd.2021.03.007. Epub 2021 Apr 7. Impact factor: Publication type: Paper in international publication Authors: Adoukonou, Thierry; Aryani, Omid; Barisic, Nina; Bashiri, Fahad; Bastaki, Laila; Benitto, Afaf; Bernert, Guenther; Bertini, Enrico; Borde, Patricia; Born, Peter et al. DOI: 10.1016/j.nmd.2021.03.007
PMID: 34493777 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 Sep 7;11(1):18146. doi: 10.1038/s41598-021-97262-y. Impact factor: Publication type: Letter or abstract Authors: Aguirre, Francisco Javier; Aleu, Montserrat; Alonso, Xenia; Alsius, Merce; Antinolo, Guillermo; Antonio, Victoria San; Aquino, Lourdes; Arellano, Carmen; Armstrong, Judith; Arriola, Gema et al. DOI: 10.1038/s41598-021-97262-y
PMID: 33972629 Journal: Scientific Reports Year: 2021 Reference: Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4. Impact factor: Publication type: Letter or abstract Authors: Aguilera-Garcia, Domingo; Aguirre-Lamban, Jana; Aller, Elena; Allikmets, Rando; Almoguera, Berta; Alonso-Cerezo, Maria C; Antinolo, Guillermo; Arteche, Ana; Avila-Fernandez, Almudena; Ayuso, Carmen et al. DOI: 10.1038/s41598-021-89275-4
PMID: 33458589 Journal: Acta myologica : myopathies and cardiomyopathies : Year: 2020 Reference: Acta Myol. 2020 Dec 1;39(4):336-344. doi: 10.36185/2532-1900-037. eCollection 2020 Dec. Impact factor: Publication type: Review in international publication Authors: Tiziano, Francesco Danilo; Tizzano, Eduardo F et al. DOI: 10.36185/2532-1900-037
PMID: 33420009 Journal: Human genome variation Year: 2020 Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3. Impact factor: Publication type: Paper in international publication Authors: Cueto-Gonzalez, Anna M; Fernandez-Alvarez, Paula; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Tizzano, Eduardo F et al. DOI: 10.1038/s41439-020-0105-3
PMID: 33370870 Journal: Stem Cell Research Year: 2020 Reference: Stem Cell Res. 2020 Dec;49:102087. doi: 10.1016/j.scr.2020.102087. Epub 2020 Nov 16. Impact factor: Publication type: Paper in international publication Authors: Aran, B; Corominas, R; Cusco, I; Flores, R; Kuebler, B; Perez-Jurado, L A; Veiga, A et al. DOI: 10.1016/j.scr.2020.102087
PMID: 33324756 Journal: Neurology-Genetics Year: 2020 Reference: Neurol Genet. 2020 Nov 18;6(6):e530. doi: 10.1212/NXG.0000000000000530. eCollection 2020 Dec. Impact factor: Publication type: Paper in international publication Authors: Alias, Laura; Bernal, Sara; Blasco-Perez, Laura; Calucho, Maite; Cusco, Ivon; Fuentes-Prior, Pablo; Tizzano, Eduardo F et al. DOI: 10.1212/NXG.0000000000000530
PMID: 30414226 Journal: INTERNAL MEDICINE JOURNAL Year: 2019 Reference: Intern Med J. 2019 May;49(5):578-591. doi: 10.1111/imj.14156. Impact factor: Publication type: Paper in international publication Authors: Belmatoug, Nadia; Bembi, Bruno; Bright, Jeremy; Deodato, Federica; Di Rocco, Maja; Goker-Alpan, Ozlem; Hughes, Derralynn A; Kuter, David J; Lukina, Elena A; Machaczka, Maciej et al. DOI: 10.1111/imj.14156
PMID: 31687335 Journal: Molecular Genetics and Metabolism Reports Year: 2019 Reference: Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec. Impact factor: Publication type: Paper in international publication Authors: Del Toro, M; Gevorkian, A K; Hendriksz, C J; Lampe, C; Lobzhanidze, T V; McNelly, B; Perez-Lopez, J; Stepien, K M; Vashakmadze, N D et al. DOI: 10.1016/j.ymgmr.2019.100508
PMID: 31681265 Journal: Frontiers in Immunology Year: 2019 Reference: Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Impact factor: Publication type: Paper in international publication Authors: Aguilo-Cucurull, Aina; Baz-Redon, Noelia; Carreras, Carmen; Colobran, Roger; Cusco, Ivon; Fernandez-Cancio, Monica; Franco-Jarava, Clara; Garcia-Patos, Vicenc; Garcia-Prat, Marina; Irastorza, Inaki et al. DOI: 10.3389/fimmu.2019.02325
PMID: 31663686 Journal: Molecular Genetics & Genomic Medicine Year: 2019 Reference: Mol Genet Genomic Med. 2019 Dec;7(12):e1016. doi: 10.1002/mgg3.1016. Epub 2019 Oct 30. Impact factor: Publication type: Paper in international publication Authors: Argudo-Ramirez, Ana; Castells, Neus; Colobran, Roger; Cueto-Gonzalez, Anna M; Marin-Soria, Jose L; Martin-Nalda, Andrea; Martinez-Gallo, Monica; Plaja, Albert; Riviere, Jacques; Soler-Palacin, Pere et al. DOI: 10.1002/mgg3.1016
PMID: NOPMID0074 Journal: CASE REPORTS IN PERINATAL MEDICINE Year: 2018 Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025 Impact factor: Publication type: Paper in international publication Authors: Castillo, Felix; Cueto-Gonzalez, Ana; Lines, Marcos; Martinez-Saez, Elena; Tizzano, Eduardo; Valenzuela, Irene et al. DOI: 10.1515/crpm-2017-0025
PMID: 28958749 Journal: ANALES DE PEDIATRIA Year: 2018 Reference: An Pediatr (Barc). 2018 Jul;89(1):3-11. doi: 10.1016/j.anpedi.2017.07.011. Epub 2017 Sep 27. Impact factor: Publication type: Paper in national publication Authors: Borregan, Mar; Castells-Sarret, Neus; Cueto-Gonzalez, Anna M; Lopez-Grondona, Fermina; Miro, Rosa; Plaja, Alberto; Tizzano, Eduardo et al. DOI: 10.1016/j.anpedi.2017.07.011
PMID: 29572183 Journal: CLINICAL IMMUNOLOGY Year: 2018 Reference: Clin Immunol. 2018 Jun;191:44-51. doi: 10.1016/j.clim.2018.03.009. Epub 2018 Mar 20. Impact factor: Publication type: Paper in international publication Authors: Aksentijevich, Ivona; Alvarez, de la Sierra Daniel; Bodet, Domingo; Colobran, Roger; Franco-Jarava, Clara; Garcia-Latorre, Laura; Garcia-Patos, Vicenc; Garcia-Prat, Marina; Martin-Nalda, Andrea; Plaja, Alberto et al. DOI: 10.1016/j.clim.2018.03.009
PMID: 30568515 Journal: International journal of women's health Year: 2018 Reference: Int J Womens Health. 2018 Nov 28;10:783-795. doi: 10.2147/IJWH.S174734. eCollection 2018. Impact factor: Publication type: Paper in international publication Authors: Ayala-Ramirez, Paola; Cajal, Santiago Ramon Y; Garrido, Marta; Hernandez-Losa, Javier; Olaya-C, Mercedes; Sese, Marta; Somoza, Rosa; Vargas, Magda Jimena et al. DOI: 10.2147/IJWH.S174734
PMID: 28847676 Journal: MOLECULAR GENETICS AND METABOLISM Year: 2017 Reference: Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4. Impact factor: Publication type: Paper in international publication Authors: Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Di Rocco, Maja; Elstein, Deborah; Goker-Alpan, Ozlem; Hughes, Derralynn; Kuter, David J; Lukina, Elena; Mehta, Atul et al. DOI: 10.1016/j.ymgme.2017.08.002
PMID: 28681252 Journal: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS Year: 2017 Reference: J Autism Dev Disord. 2017 Oct;47(10):2947-2956. doi: 10.1007/s10803-017-3203-4. Impact factor: Publication type: Paper in international publication Authors: Codina-Sola, Marta; Cusco, Ivon; Perez-Jurado, Luis A; Serra-Juhe, Clara et al. DOI: 10.1007/s10803-017-3203-4
PMID: 28489853 Journal: PLoS Genetics Year: 2017 Reference: PLoS Genet. 2017 May 10;13(5):e1006657. doi: 10.1371/journal.pgen.1006657. eCollection 2017 May. Impact factor: Publication type: Paper in international publication Authors: Argente, Jesus; Bou de Pieri, Francesc; Flores, Raquel; Gonzalez, Juan R; Martos-Moreno, Gabriel A; Perez-Jurado, Luis A; Rodriguez-Santiago, Benjamin; Serra-Juhe, Clara et al. DOI: 10.1371/journal.pgen.1006657
PMID: 28513616 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2017 Reference: Eur J Hum Genet. 2017 Aug;25(8):918-923. doi: 10.1038/ejhg.2017.76. Epub 2017 May 17. Impact factor: Publication type: Paper in international publication Authors: Cordier, Christophe; Ingvoldstad, Charlotta; Moldovan, Ramona; Paneque, Milena; Pestoff, Rebecka; Serra-Juhe, Clara; Silva, Joao et al. DOI: 10.1038/ejhg.2017.76
PMID: 27406248 Journal: EUROPEAN JOURNAL OF HUMAN GENETICS Year: 2016 Reference: Eur J Hum Genet. 2016 Dec;24(12):1783-1791. doi: 10.1038/ejhg.2016.91. Epub 2016 Jul 13. Impact factor: Publication type: Paper in international publication Authors: Avela, Kristiina; Bache, Iben; Bakkers, Jeroen; Brunner, Han G; Chocron, Sonja; Claes, Godelieve Rf; Krapels, Ingrid P C; Lundin, Catarina; Maroun, Lisa Leth; Nagy, Balint et al. DOI: 10.1038/ejhg.2016.91
PMID: 26501556 Journal: OSTEOPOROSIS INTERNATIONAL Year: 2016 Reference: Osteoporos Int. 2016 Feb;27(2):827-32. doi: 10.1007/s00198-015-3355-z. Impact factor: Publication type: Paper in international publication Authors: Garrido, M; Lalanza, M; Minguell, J; Nunez, J H; Selga, J et al. DOI: 10.1007/s00198-015-3355-z
PMID: 27404287 Journal: Translational Psychiatry Year: 2016 Reference: Transl Psychiatry. 2016 Jul 12;6(7):e855. doi: 10.1038/tp.2016.120. Impact factor: Publication type: Paper in international publication Authors: Codina-Sola, M; Cusco, I; Homs, A; Monk, D; Perez-Jurado, L A; Rodriguez-Santiago, B; Villanueva, C M et al. DOI: 10.1038/tp.2016.120
PMID: 27816186 Journal: MEDICINA CLINICA Year: 2016 Reference: Med Clin (Barc). 2016 Dec 2;147(11):506.e1-506.e7. doi: 10.1016/j.medcli.2016.09.018. Epub 2016 Nov 3. Impact factor: Publication type: Paper in national publication Authors: Aldamiz Echevarri Azuara, Luis Jose; Campistol, Jaume; Ceberio-Hualde, Leticia; Couce, M Luz; Del Toro, Mireia; Garcia Morillo, Jose Salvador; Garcia-Silva, Maria Teresa; Gonzalez Gutierrez-Solana, Luis; Grau-Junyent, Josep M; Hermida Ameijeiras, Alvaro et al. DOI: 10.1016/j.medcli.2016.09.018
PMID: 25703627 Journal: HUM MUTAT Year: 2015 Reference: Hum Mutat. 2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Impact factor: Publication type: Review in national publication Authors: De Paepe, Anne; Del Campo, Miguel; Hausser, Ingrid; Hermanns-Le, Trinh; Maiburg, Merel C; Malfait, Fransiska; Morton, Jenny; Suri, Mohnish; Symoens, Sofie; Syx, Delfien et al. DOI: 10.1002/humu.22774
PMID: 25663682 Journal: J MED GENET Year: 2015 Reference: J Med Genet. 2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. Impact factor: Publication type: Paper in international publication Authors: Borralleras, Cristina; Campuzano, Victoria; Del Campo, Miguel; Flores, Raquel; Palacios-Verdu, Maria Gabriela; Perez-Jurado, Luis Alberto; Segura-Puimedon, Maria et al. DOI: 10.1136/jmedgenet-2014-102713
PMID: 25969726 Journal: MOL AUTISM Year: 2015 Reference: Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Impact factor: Publication type: Paper in international publication Authors: Antinolo, Guillermo; Aznar-Lain, Gemma; Botella, Maria Pilar; Codina-Sola, Marta; Cusco, Ivon; Del Campo, Miguel; Gabau, Elisabeth; Gener, Blanca; Gutierrez-Arumi, Armand; Homs, Aida et al. DOI: 10.1186/s13229-015-0017-0
PMID: 0003nopmid Journal: Prog Obstet Ginecol Year: 2015 Reference: Progresos de Obstetricia y Ginecología, 2015-12-01, Volumen 58, Número 10, Páginas 470-473 Impact factor: Publication type: Paper in national publication Authors: Armengol, Lluis; Borrell, Antoni; Campo Casanelles, Miguel del; Casals, Elena; Chica, Rosana de la; Cirigliano , Vincenzo; Figueras, Francesc; Plaja Rustein, Alberto et al. DOI: 10.1016/j.pog.2015.05.003
PMID: 24563179 Journal: EUROPEAN RADIOLOGY Year: 2014 Reference: Eur Radiol. 2014 May;24(5):1153-65. doi: 10.1007/s00330-014-3114-0. Epub 2014 Feb 23. Impact factor: Publication type: Paper in international publication Authors: Barber, Ignasi; Beek, Frederik J A; Bierings, Marc B; de Keizer, Bart; Enriquez, Goya; Granata, Claudio; Hobbelink, Monique G; Kwee, Thomas C; Littooij, Annemieke S; Nievelstein, Rutger A J et al. DOI: 10.1007/s00330-014-3114-0
PMID: 24954233 Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY Year: 2014 Reference: Dev Med Child Neurol. 2014 Dec;56(12):1207-11. doi: 10.1111/dmcn.12523. Epub 2014 Jun 21. Impact factor: Publication type: Paper in international publication Authors: Boronat, Susana; Caruso, Paul; Thiele, Elizabeth A et al. DOI: 10.1111/dmcn.12523
PMID: 24325802 Journal: BRAIN & DEVELOPMENT Year: 2014 Reference: Brain Dev. 2014 Oct;36(9):801-6. doi: 10.1016/j.braindev.2013.11.003. Epub 2013 Dec 8. Impact factor: Publication type: Paper in international publication Authors: Auladell, Maria; Boronat, Susana; Caruso, Paul; Thiele, Elizabeth Anne; Van Eeghen, Agnies et al. DOI: 10.1016/j.braindev.2013.11.003
PMID: 25200617 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2014 Reference: Rev Esp Cardiol (Engl Ed). 2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. Impact factor: Publication type: Letter or abstract Authors: Borregan, Mar; del Campo, Miguel; Evangelista, Artur; Gutierrez, Laura; Teixido-Tura, Gisela; Valenzuela, Irene et al. DOI: 10.1016/j.rec.2014.06.003
PMID: 23522784 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2013 Reference: Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. Impact factor: Publication type: Paper in international publication Authors: Abdel-Salam, Ghada; Aglan, Mona; Al-Zahrani, Fatema; Alkuraya, Fowzan S; Ansari, Shinu; Ashour, Adel; Cueto-Gonzalez, Anna M; Faqeih, Eissa; Horton, Kim; Keppler-Noreuil, Kim et al. DOI: 10.1016/j.ajhg.2013.02.012
PMID: 23436824 Journal: ACTA RADIOLOGICA Year: 2013 Reference: Acta Radiol. 2013 Nov;54(9):1086-95. doi: 10.1177/028418511305400901. Epub 2013 Apr 30. Impact factor: Publication type: Review in international publication Authors: Coma, Ana; Enriquez, Goya; Garcia-Pena, Pilar et al. DOI: 10.1177/028418511305400901
PMID: 24775460 Journal: REVISTA ESPANOLA DE CARDIOLOGIA Year: 2013 Reference: Rev Esp Cardiol. 2013 Mar;66(3):224-5. doi: 10.1016/j.rec.2012.06.018. Epub 2012 Sep 25. Impact factor: Publication type: Letter whit IF Authors: Albert, Dimpna C; Betrian, Pedro; Garrido, Marta; Giralt, Gemma; Girona, Josep; Madrid, Alvaro et al. DOI: 10.1016/j.rec.2012.06.018
PMID: 23894094 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2013 Reference: Am J Med Genet A. 2013 Sep;161(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25. Impact factor: Publication type: Paper in international publication Authors: Barranco, Laura; Barrena, Beatriz; Campo, Miguel Del; Catala, Vicenc; Fernandez, Asuncion; Herrero, Marta; Lloveras, Elisabet; Lopez-Ariztegui, M Asuncion; Martinez-Bouzas, Cristina; Palau, Nuria et al. DOI: 10.1002/ajmg.a.36102
PMID: 23122587 Journal: AMERICAN JOURNAL OF HUMAN GENETICS Year: 2012 Reference: Am J Hum Genet. 2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. Impact factor: Publication type: Paper in international publication Authors: Admiraal, Ronald J C; Beynon, Andy J; del Campo, Miguel; del Castillo, Francisco J; del Castillo, Ignacio; Dominguez-Ruiz, Maria; Garcia-Arumi, Ana M; Hoefsloot, Lies H; Kalay, Ersan; Kremer, Hannie et al. DOI: 10.1016/j.ajhg.2012.09.012
PMID: 23056206 Journal: PLoS One Year: 2012 Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3. Impact factor: Publication type: Paper in international publication Authors: Camats, Nuria; Cusco, Ivon; Perez-Jurado, Luis A; Rodriguez-Santiago, Benjamin; Serra-Juhe, Clara; Toran, Nuria; Vendrell, Teresa et al. DOI: 10.1371/journal.pone.0045530
PMID: 22972573 Journal: REVISTA DE NEUROLOGIA Year: 2012 Reference: Rev Neurol. 2012 Sep 16;55(6):321-9. Impact factor: Publication type: Letter or abstract Authors: Boronat-Guerrero, S; Del Toro-Riera, M; Flotats-Bastardas, M; Macaya-Ruiz, A; Munell, F; Ortega-Aznar, A; Raspall-Chaure, M; Roig-Quilis, M; Sanchez-Montanez, A; Vazquez-Mendez, E et al. DOI:
PMID: 22492103 Journal: REVISTA DE NEUROLOGIA Year: 2012 Reference: Rev Neurol. 2012 Apr 16;54(8):497-507. Impact factor: Publication type: Letter or abstract Authors: Barba-Romero, M A; Barrot, E; Bautista-Lorite, J; Gutierrez-Rivas, E; Illa, I; Jimenez, L M; Ley-Martos, M; Lopez de Munain, A; Pardo, J; Pascual-Pascual, S I et al. DOI:
PMID: 21553041 Journal: PEDIATRIC RADIOLOGY Year: 2011 Reference: Pediatr Radiol. 2011 Jul;41(7):916-24. doi: 10.1007/s00247-011-2065-8. Epub 2011 May 7. Impact factor: Publication type: Review in international publication Authors: Enriquez, Goya; Garces-Inigo, Enrique F; Garcia-Pena, Pilar; Lucaya, Javier; Piqueras, Joaquim et al. DOI: 10.1007/s00247-011-2065-8
PMID: 21398195 Journal: ANALES DE PEDIATRIA Year: 2011 Reference: An Pediatr (Barc). 2011 Jul;75(1):33-9. doi: 10.1016/j.anpedi.2011.01.026. Epub 2011 Mar 12. Impact factor: Publication type: Letter or abstract Authors: Castellote Alonso, A; Chocron de Benzaquen, S; Enriquez, G; Madrid Aris, A D; Munoz Lopez, M; Nieto Rey, J L et al. DOI: 10.1016/j.anpedi.2011.01.026
PMID: 21768243 Journal: RADIOGRAPHICS Year: 2011 Reference: Radiographics. 2011 Jul-Aug;31(4):1123-39. doi: 10.1148/rg.314105180. Impact factor: Publication type: Review in international publication Authors: Barber, Ignasi; Delgado, Ignacio; Enriquez, Goya; Sanchez-Montanez, Angel; Sanchez-Toledo, Jose; Vazquez, Elida et al. DOI: 10.1148/rg.314105180
PMID: 21771150 Journal: JOURNAL OF PAEDIATRICS AND CHILD HEALTH Year: 2011 Reference: J Paediatr Child Health. 2011 Jul;47(7):485-6. doi: 10.1111/j.1440-1754.2011.02136.x. Impact factor: Publication type: Letter or abstract Authors: Fernandez-San Jose, Carolina; Martin-Nalda, Andrea; Soler-Palacin, Pere; Vendrell Bayona, Teresa et al. DOI: 10.1111/j.1440-1754.2011.02136.x
PMID: 20232139 Journal: BREAST CANCER RESEARCH AND TREATMENT Year: 2010 Reference: Breast Cancer Res Treat. 2010 Sep;123(2):587-90. Epub 2010 Mar 16. Impact factor: Publication type: Paper in international publication Authors: Arcusa, Angels; Diez, Orland; Gutierrez-Enriquez, Sara; Llort, Gemma; Masas, Miriam; Tenes, Anna; Yague, Carme et al. DOI: 10.1007/s10549-010-0830-2
PMID: 19649703 Journal: BREAST CANCER RESEARCH AND TREATMENT Year: 2010 Reference: Breast Cancer Res Treat. 2010 May;121(1):221-5. Epub 2009 Aug 1. Impact factor: Publication type: Paper in international publication Authors: Balmana, Judith; Diez, Orland; Gadea, Neus; Gutierrez-Enriquez, Sara; Masas, Miriam; Mediano, Carmen; Saura, Cristina et al. DOI: 10.1007/s10549-009-0494-y
PMID: 20503313 Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART A Year: 2010 Reference: Am J Med Genet A. 2010 Jun;152A(6):1390-7. Impact factor: Publication type: Paper in international publication Authors: Belinchon, Alberta; Benito-Sanz, Sara; Campos-Barros, Angel; Del Campo, Miguel; Esteban-Marfil, Victoria; Fernandez, Luis; Garcia-Minaur, Sixto; Gomez-Puertas, Paulino; Gracia-Bouthelier, Ricardo; Guillen-Navarro, Encarna et al. DOI: 10.1002/ajmg.a.33453
PMID: 20889556 Journal: JOURNAL OF MOLECULAR DIAGNOSTICS Year: 2010 Reference: J Mol Diagn. 2010 Nov;12(6):828-34. Epub 2010 Oct 1. Impact factor: Publication type: Paper in international publication Authors: Badenas, Celia; Borrell, Antoni; Clusellas, Nuria; Jimenez, Wladimiro; Mediano, Carmen; Mila, Montserrat; Miro, Elisabeth; Morales, Carme; Perez-Iribarne, Ma Mar; Plaja, Alberto et al. DOI: 10.2353/jmoldx.2010.090224
PMID: 19440754 Journal: PEDIATRIC RADIOLOGY Year: 2009 Reference: Pediatr Radiol. 2009 Jun;39 Suppl 3:356-68. doi: 10.1007/s00247-009-1228-3. Impact factor: Publication type: Review in international publication Authors: Enriquez, Goya; Garcia-Pena, Pilar; Lucaya, Javier et al. DOI: 10.1007/s00247-009-1228-3
PMID: 19350654 Journal: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY Year: 2009 Reference: Birth Defects Res A Clin Mol Teratol. 2009 Aug;85(8):695-9. Impact factor: Publication type: Paper in international publication Authors: Bakhireva, Ludmila N; Chambers, Christina D; del Campo, Miguel; Hoyme, H Eugene; Jones, Kenneth Lyons; Manning, Melanie A; Prewitt, Lela M; Robinson, Luther K et al. DOI: 10.1002/bdra.20585
PMID: 18712473 Journal: BREAST CANCER RESEARCH AND TREATMENT Year: 2009 Reference: Breast Cancer Res Treat. 2009 Sep;117(2):461-5. Epub 2008 Aug 19. Impact factor: Publication type: Paper in international publication Authors: Balmana, Judith; Coderch, Veronica; Diez, Orland; Gutierrez-Enriquez, Sara; Masas, Miriam et al. DOI: 10.1007/s10549-008-0154-7
PMID: 19859877 Journal: REVISTA DE NEUROLOGIA Year: 2009 Reference: Rev Neurol. 2009 Nov 16-30;49(10):529-32. Impact factor: Publication type: Paper in national publication Authors: Boronat-Guerrero, S; del Toro-Riera, M; Roig-Quilis, M; Vazquez-Mendez, E; Velasco-Puyo, P et al. DOI:
PhD student: Anna Maria Cueto Gonzalez, Anna Maria Cueto Gonzalez Director/s: University: Universidad Autònoma de Barcelona Year: 2016
PhD student: Maite Calucho Prim Director/s: University: Universidad Autònoma de Barcelona Year: 2014
PhD student: Jorge Pérez López Director/s: University: Universidad Autònoma de Barcelona Year: 2007
The results show that, in some patients with mutations in the X chromosome, the healthy gene is inactivated and the mutated gene manifests itself, which favors the onset of the disease.
On January 24, a session was held to explain what these three-dimensional models are and what advantages they have, as well as to review some of their applications in research.
The research has studied the structure and function of proteins related to this degenerative disease and their interaction with SMN2 messenger RNA (mRNA), which is key to the evolution of patients.