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The science produced by our scientists is very important. In 2022, 1,629 papers were published in scientific journals with a global impact factor of over 15,000 points.

Functional rare variants influence the clinical response to anti-TNF therapy in Crohn's disease.

PMID: 31598133
Journal: Therapeutic Advances in Gastroenterology
Year: 2019
Reference: Therap Adv Gastroenterol. 2019 Sep 25;12:1756284819867848. doi: 10.1177/1756284819867848. eCollection 2019.
Impact factor: 3.961
Publication type: Paper in international publication
Authors: Olivares, David, Aguilar-Melero, Patricia, Menchen, Luis, Ferreiro-Iglesias, Rocio, Blazquez Gomez, Isabel, Benitez Garcia, Beatriz, Guijarro, Luis G, Marin, Alicia C, Bernardo, David, Marsal, Sara et al.
DOI: 10.1177/1756284819867848

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

PMID: 30006058
Journal: European Journal of Medical Genetics
Year: 2019
Reference: Eur J Med Genet. 2019 Mar;62(3):182-185. doi: 10.1016/j.ejmg.2018.07.007. Epub 2018 Jul 10.
Impact factor: 2.022
Publication type: Paper in international publication
Authors: Valenzuela, Irene, Segura-Puimedon, Maria, Rodriguez-Santiago, Benjamin, Fernandez-Alvarez, Paula, Vendrell, Teresa, Armengol, Lluis, Tizzano, Eduardo et al.
DOI: 10.1016/j.ejmg.2018.07.007

FXYD5/Dysadherin, a Biomarker of Endometrial Cancer Myometrial Invasion and Aggressiveness: Its Relationship With TGF-beta1 and NF-kappaB Pathways.

PMID: 31867269
Journal: Frontiers in Oncology
Year: 2019
Reference: Front Oncol. 2019 Dec 6;9:1306. doi: 10.3389/fonc.2019.01306. eCollection 2019.
Impact factor: 4.137
Publication type: Paper in international publication
Authors: Besso, Maria Jose, Rosso, Marina, Lapyckyj, Lara, Moiola, Cristian Pablo, Matos, Maria Laura, Mercogliano, Maria Florencia, Schillaci, Roxana, Reventos, Jaume, Colas, Eva, Gil-Moreno, Antonio et al.
DOI: 10.3389/fonc.2019.01306

Galloping tongue syndrome in a PRRT2 mutation carrier.

PMID: 31872056
Journal: Neurology-Genetics
Year: 2019
Reference: Neurol Genet. 2019 Nov 11;5(6):e377. doi: 10.1212/NXG.0000000000000377. eCollection 2019 Dec.
Impact factor: 0
Publication type: Paper in international publication
Authors: Vilas, Dolores, Marce-Grau, Anna, Macaya, Alfons, Valls-Sole, Josep, Tolosa, Eduard et al.
DOI: 10.1212/NXG.0000000000000377

Gastroesophageal reflux disease in a patient with a BMI of 30 kg/m(2) and previous endoscopic sleeve gastroplasty: Indication for a one-anastomosis gastric bypass.

PMID: 31387725
Journal: CIRUGIA ESPANOLA
Year: 2019
Reference: Cir Esp. 2019 Nov;97(9):547-548. doi: 10.1016/j.ciresp.2019.06.006. Epub 2019 Aug 3.
Impact factor: 0.835
Publication type: Letter or abstract
Authors: Roriz da Silva, Renato, Fort Lopez-Barajas, Jose Manuel, Vilallonga Puy, Ramon, Garcia Ruiz de Gordejuela, Amador et al.
DOI: 10.1016/j.ciresp.2019.06.006

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

PMID: 31130326
Journal: MOLECULAR GENETICS AND METABOLISM
Year: 2019
Reference: Mol Genet Metab. 2019 Jun;127(2):138-146. doi: 10.1016/j.ymgme.2019.05.011. Epub 2019 May 21.
Impact factor: 3.61
Publication type: Paper in international publication
Authors: Del Toro, Mireia, Spiegel, Ronen, Gutstein, Ariel, Shafir, Gideon, Cohen, Ian J, Barrabes, Jose A, Feldman, Hagit Baris, Kurolap, Alina et al.
DOI: 10.1016/j.ymgme.2019.05.011

[GEMICOMED/GEIRAS-SEIMC recommendations for the management of Candida auris infection and colonization].

PMID: 31694788
Journal: REVISTA IBEROAMERICANA DE MICOLOGIA
Year: 2019
Reference: Rev Iberoam Micol. 2019 Jul - Sep;36(3):109-114. doi: 10.1016/j.riam.2019.06.001. Epub 2019 Nov 3.
Impact factor: 1.597
Publication type: Paper in national publication
Authors: Ruiz-Gaitan, Alba, Salavert, Miguel, Tasias, Mariona, Vinuela, Lourdes, Peman, Javier, Ramirez, Paula, Pano, Jose Ramon, Martin-Gomez, Maria Teresa, Guinea, Jesus, Alastruey-Izquierdo, Ana et al.
DOI: 10.1016/j.riam.2019.06.001

Gender differences in cancer risk after kidney transplantation.

PMID: 31139324
Journal: Oncotarget
Year: 2019
Reference: Oncotarget. 2019 May 3;10(33):3114-3128. doi: 10.18632/oncotarget.26859. eCollection 2019 May 3.
Impact factor:
Publication type: Paper in international publication
Authors: Bartolome, Alvaro; Buxeda, Anna; Crespo, Marta; Duran, Xavier; Mir, Marisa; Pascual, Julio; Pascual-Dapena, Ana; Perez-Saez, Maria Jose; Redondo-Pachon, Dolores; Sans, Anna et al.
DOI: 10.18632/oncotarget.26859

Gender Differences in the Professional Lives of Cardiologists in 70 Spanish Hospitals.

PMID: 30243612
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2019
Reference: Rev Esp Cardiol (Engl Ed). 2019 Mar;72(3):272-274. doi: 10.1016/j.rec.2018.08.013. Epub 2018 Sep 20.
Impact factor: 5.078
Publication type: Paper in national publication
Authors: Sambola, Antonia, Anguita, Manuel, Guzman, Gabriela, Beltran, Paola, Mila, Laia, Gine, Mireia et al.
DOI: 10.1016/j.rec.2018.08.013

Gender Differences in Transfemoral Transcatheter Aortic Valve Replacement.

PMID: 31562908
Journal: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Year: 2019
Reference: J Am Coll Cardiol. 2019 Dec 3;74(22):2758-2767. doi: 10.1016/j.jacc.2019.09.015. Epub 2019 Sep 25.
Impact factor: 18.639
Publication type: Paper in international publication
Authors: Vlastra, Wieneke, Chandrasekhar, Jaya, Del Blanco, Bruno Garcia, Tchetche, Didier, de Brito, Fabio S Jr, Barbanti, Marco, Kornowski, Ran, Latib, Azeem, D'Onofrio, Augusto, Ribichini, Flavio et al.
DOI: 10.1016/j.jacc.2019.09.015

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.

PMID: 30911161
Journal: NATURE GENETICS
Year: 2019
Reference: Nat Genet. 2019 Apr;51(4):659-674. doi: 10.1038/s41588-019-0364-4. Epub 2019 Mar 25.
Impact factor: 25.455
Publication type: Paper in international publication
Authors: Mahajan, Milind C, Kramer, Robin, Domenici, Enrico, Gamazon, Eric R, Purcell, Shaun, Demontis, Ditte, Borglum, Anders D, Walters, James T R, O'Donovan, Michael C, Sullivan, Patrick et al.
DOI: 10.1038/s41588-019-0364-4

Generation of cattle knockout for galactose-alpha1,3-galactose and N-glycolylneuraminic acid antigens.

PMID: 31115108
Journal: XENOTRANSPLANTATION
Year: 2019
Reference: Xenotransplantation. 2019 Sep;26(5):e12524. doi: 10.1111/xen.12524. Epub 2019 May 22.
Impact factor: 3.484
Publication type: Paper in international publication
Authors: Perota, Andrea, Lagutina, Irina, Duchi, Roberto, Zanfrini, Elisa, Lazzari, Giovanna, Judor, Jean Paul, Conchon, Sophie, Bach, Jean Marie, Bottio, Tomaso, Gerosa, Gino et al.
DOI: 10.1111/xen.12524

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

PMID: 30995915
Journal: Orphanet Journal of Rare Diseases
Year: 2019
Reference: Orphanet J Rare Dis. 2019 Apr 17;14(1):82. doi: 10.1186/s13023-019-1046-0.
Impact factor: 3.687
Publication type: Paper in international publication
Authors: Arias-Salgado, Elena G, Galvez, Eva, Planas-Cerezales, Lurdes, Vallespin, Elena, Pintado-Berninches, Laura, Sastre, Leandro, Molina-Molina, Maria, Martinez, Pilar, Carrillo, Jaime, Iarriccio, Laura et al.
DOI: 10.1186/s13023-019-1046-0

Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

PMID: 30651383
Journal: NEUROLOGY
Year: 2019
Reference: Neurology. 2019 Jan;92(5):e486-e503. doi: 10.1212/WNL.0000000000006851.
Impact factor: 8.689
Publication type: Paper in international publication
Authors: Knopman, David S, Bis, Joshua C, Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer et al.
DOI: 10.1212/WNL.0000000000006851

Genetic association between CD96 locus and immunogenicity to anti-TNF therapy in Crohn's disease.

PMID: 31043678
Journal: PHARMACOGENOMICS JOURNAL
Year: 2019
Reference: Pharmacogenomics J. 2019 Dec;19(6):547-555. doi: 10.1038/s41397-019-0090-4. Epub 2019 May 2.
Impact factor: 3.503
Publication type: Paper in international publication
Authors: Aterido, Adria, Palau, Nuria, Domenech, Eugeni, Nos Mateu, Pilar, Gutierrez, Ana, Gomollon, Fernando, Mendoza, Juan L, Garcia-Planella, Esther, Barreiro-de Acosta, Manuel, Munoz, Fernando et al.
DOI: 10.1038/s41397-019-0090-4

Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent.

PMID: 31852892
Journal: Nature Communications
Year: 2019
Reference: Nat Commun. 2019 Dec 18;10(1):5765. doi: 10.1038/s41467-019-13544-0.
Impact factor: 11.878
Publication type: Paper in international publication
Authors: Breen, Gerome, Hubel, Christopher, Gaspar, Helena A, Coleman, Jonathan R I, Hanscombe, Ken B, Purves, Kirstin, Prokopenko, Inga, Graff, Mariaelisa, Ngwa, Julius S, Workalemahu, Tsegaselassie et al.
DOI: 10.1038/s41467-019-13544-0

Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.

PMID: 30471648
Journal: EUROPEAN JOURNAL OF CANCER
Year: 2019
Reference: Eur J Cancer. 2019 Jan;106:54-60. doi: 10.1016/j.ejca.2018.10.007. Epub 2018 Nov 22.
Impact factor: 6.68
Publication type: Paper in international publication
Authors: Evans, D Gareth, Singer, Christian F, Balmana, Judith, Burki, Nicole, Delaloge, Suzette, Filieri, Maria Elisabetta, Gerdes, Anna-Marie, Grindedal, Eli Marie, Johansson, Oskar, Kaufman, Bella et al.
DOI: 10.1016/j.ejca.2018.10.007

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies.

PMID: 31095747
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2019
Reference: J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24.
Impact factor: 4.287
Publication type: Review in international publication
Authors: Perez-Duenas, Belen, Marce-Grau, Anna, Marti-Sanchez, Laura, Baide-Mairena, Heidy, Ortigoza-Escobar, Juan Dario et al.
DOI: 10.1002/jimd.12125

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

PMID: 31413120
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2019
Reference: J Med Genet. 2019 Dec;56(12):801-808. doi: 10.1136/jmedgenet-2019-106080. Epub 2019 Aug 14.
Impact factor: 5.899
Publication type: Paper in international publication
Authors: Codina-Sola, Marta, Costa-Roger, Mar, Perez-Garcia, Debora, Flores, Raquel, Palacios-Verdu, Maria Gabriela, Cusco, Ivon, Perez-Jurado, Luis Alberto et al.
DOI: 10.1136/jmedgenet-2019-106080

Genetic identification of a war-evacuated child in search of his own identity for more than seventy years.

PMID: 30925350
Journal: FORENSIC SCIENCE INTERNATIONAL
Year: 2019
Reference: Forensic Sci Int. 2019 May;298:312-315. doi: 10.1016/j.forsciint.2019.03.014. Epub 2019 Mar 15.
Impact factor:
Publication type: Paper in international publication
Authors: Barcelo, Anna; Camps, Jordi; Donovan, Michael J; Etxeberria, Francisco; Garcia-Caldes, Montserrat; Jimenez, Jimi; Lahoz, Roger; Miro, Rosa; Navarro, Joaquima; Niubo, Angels et al.
DOI: 10.1016/j.forsciint.2019.03.014

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

PMID: 30821013
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Jun;40(6):749-764. doi: 10.1002/humu.23730. Epub 2019 Mar 29.
Impact factor:
Publication type: Paper in international publication
Authors: Arbelo, Elena; Brugada, Josep; Brugada, Ramon; Campuzano, Oscar; Cesar, Sergi; Coll, Monica; Del Olmo, Bernat; Fernandez-Falgueras, Anna; Fiol, Victoria; Iglesias, Anna et al.
DOI: 10.1002/humu.23730

Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes.

PMID: 30930738
Journal: Frontiers in Neuroscience
Year: 2019
Reference: Front Neurosci. 2019 Mar 13;13:220. doi: 10.3389/fnins.2019.00220. eCollection 2019.
Impact factor: 3.648
Publication type: Paper in international publication
Authors: Wang, Yunpeng, Drange, Ole Kristian, Smeland, Olav Bjerkehagen, Shadrin, Alexey A, Finseth, Per Ivar, Witoelar, Aree, Frei, Oleksandr, Wang, Yunpeng, Hassani, Sahar, Djurovic, Srdjan et al.
DOI: 10.3389/fnins.2019.00220

Genetic Testing to Predict Weight Loss and Diabetes Remission and Long-Term Sustainability after Bariatric Surgery: A Pilot Study.

PMID: 31277226
Journal: Journal of Clinical Medicine
Year: 2019
Reference: J Clin Med. 2019 Jul 3;8(7). pii: jcm8070964. doi: 10.3390/jcm8070964.
Impact factor: 5.688
Publication type: Paper in international publication
Authors: Ciudin, Andreea, Fidilio, Enzamaria, Ortiz, Angel, Pich, Sara, Salas, Eduardo, Mesa, Jordi, Hernandez, Cristina, Simo-Servat, Olga, Lecube, Albert, Simo, Rafael et al.
DOI: 10.3390/jcm8070964

Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis.

PMID: 30552173
Journal: ANNALS OF THE RHEUMATIC DISEASES
Year: 2019
Reference: Ann Rheum Dis. 2019 Mar;78(3). pii: annrheumdis-2018-214158. doi: 10.1136/annrheumdis-2018-214158. Epub 2018 Dec 14.
Impact factor: 14.299
Publication type: Paper in international publication
Authors: Alperi-Lopez, Mercedes, Blanco, Ricardo, Willisch Dominguez, Alfredo, Mosquera, Jose Antonio, Vela, Paloma, Sanchez-Fernandez, Simon Angel, Corominas, Hector, Ramirez, Julio, de la Cueva, Pablo, Fonseca, Eduardo et al.
DOI: 10.1136/annrheumdis-2018-214158