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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.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

PMID: 30464053
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2019
Reference: J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.
Impact factor: 5.899
Publication type: Paper in international publication
Authors: Roldan, Susana, Artuch, Rafael, Velazquez-Fragua, Ramon, Macaya, Alfons, Perez-Cerda, Celia, Perez-Duenas, Belen, Perez, Belen, Serrano, Mercedes, Aguilera-Albesa, Sergio, Gutierrez-Solana, Luis G et al.
DOI: 10.1136/jmedgenet-2018-105588

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

PMID: 30464053
Journal: JOURNAL OF MEDICAL GENETICS
Year: 2019
Reference: J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Aisa, Eduardo; Algrabli, Adi; Arjona, Cesar; Artuch, Rafael; Bolasell, Merce; Borregan, Mar; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carratala, Francisco et al.
DOI: 10.1136/jmedgenet-2018-105588

Fulvestrant Plus Vistusertib vs Fulvestrant Plus Everolimus vs Fulvestrant Alone for Women With Hormone Receptor-Positive Metastatic Breast Cancer: The MANTA Phase 2 Randomized Clinical Trial.

PMID: 31465093
Journal: JAMA Oncology
Year: 2019
Reference: JAMA Oncol. 2019;5(11):1556-1563. doi: 10.1001/jamaoncol.2019.2526.
Impact factor: 22.416
Publication type: Paper in international publication
Authors: Schmid, Peter, Zaiss, Matthias, Harper-Wynne, Catherine, Ferreira, Marta, Dubey, Sidharth, Chan, Stephen, Makris, Andreas, Nemsadze, Gia, Brunt, Adrian M, Kuemmel, Sherko et al.
DOI: 10.1001/jamaoncol.2019.2526

Fulvestrant Plus Vistusertib vs Fulvestrant Plus Everolimus vs Fulvestrant Alone for Women With Hormone Receptor-Positive Metastatic Breast Cancer: The MANTA Phase 2 Randomized Clinical Trial.

PMID: 31465093
Journal: JAMA Oncology
Year: 2019
Reference: JAMA Oncol. 2019;5(11):1556-1563. doi: 10.1001/jamaoncol.2019.2526.
Impact factor:
Publication type: Paper in international publication
Authors: Brown, Janet; Brunt, Adrian M; Chan, Stephen; Coetzee, Carike; Conibear, John; Cortes, Javier; Dubey, Sidharth; Ferreira, Marta; Grenier, Julien; Harper-Wynne, Catherine et al.
DOI: 10.1001/jamaoncol.2019.2526

Functional high-throughput screening reveals miR-323a-5p and miR-342-5p as new tumor-suppressive microRNA for neuroblastoma.

PMID: 30770954
Journal: CELLULAR AND MOLECULAR LIFE SCIENCES
Year: 2019
Reference: Cell Mol Life Sci. 2019 Jun;76(11):2231-2243. doi: 10.1007/s00018-019-03041-4. Epub 2019 Feb 15.
Impact factor: 7.014
Publication type: Paper in international publication
Authors: Soriano, Aroa, Masanas, Marc, Boloix, Ariadna, Masia, Nuria, Paris-Coderch, Laia, Piskareva, Olga, Jimenez, Carlos, Henrich, Kai-Oliver, Roma, Josep, Westermann, Frank et al.
DOI: 10.1007/s00018-019-03041-4

Functional high-throughput screening reveals miR-323a-5p and miR-342-5p as new tumor-suppressive microRNA for neuroblastoma.

PMID: 30770954
Journal: CELLULAR AND MOLECULAR LIFE SCIENCES
Year: 2019
Reference: Cell Mol Life Sci. 2019 Jun;76(11):2231-2243. doi: 10.1007/s00018-019-03041-4. Epub 2019 Feb 15.
Impact factor:
Publication type: Paper in international publication
Authors: Boloix, Ariadna; de Toledo, Josep Sanchez; Gallego, Soledad; Henrich, Kai-Oliver; Jimenez, Carlos; Masanas, Marc; Masia, Nuria; Paris-Coderch, Laia; Piskareva, Olga; Roma, Josep et al.
DOI: 10.1007/s00018-019-03041-4

Functional Near-Infrared Spectroscopy to Study Cerebral Hemodynamics in Older Adults During Cognitive and Motor Tasks: A Review.

PMID: 32038224
Journal: Frontiers in Aging Neuroscience
Year: 2019
Reference: Front Aging Neurosci. 2020 Jan 21;11:367. doi: 10.3389/fnagi.2019.00367. eCollection 2019.
Impact factor: 3.633
Publication type: Review in international publication
Authors: Inzitari, Marco, Soto-Bagaria, Luis, Perez, Laura-Monica, Udina, Cristina, Avtzi, Stella, Durduran, Turgut, Holtzer, Roee, Rosso, Andrea L, Castellano-Tejedor, Carmina et al.
DOI: 10.3389/fnagi.2019.00367

Functional Near-Infrared Spectroscopy to Study Cerebral Hemodynamics in Older Adults During Cognitive and Motor Tasks: A Review.

PMID: 32038224
Journal: Frontiers in Aging Neuroscience
Year: 2019
Reference: Front Aging Neurosci. 2020 Jan 21;11:367. doi: 10.3389/fnagi.2019.00367. eCollection 2019.
Impact factor:
Publication type: Review in international publication
Authors: Avtzi, Stella; Castellano-Tejedor, Carmina; Durduran, Turgut; Holtzer, Roee; Inzitari, Marco; Perez, Laura-Monica; Rosso, Andrea L; Soto-Bagaria, Luis; Udina, Cristina et al.
DOI: 10.3389/fnagi.2019.00367

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

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:
Publication type: Paper in international publication
Authors: Aguilar-Melero, Patricia; Aterido, Adria; Banales, Jesus Maria; Barreiro-de Acosta, Manuel; Beltran, Belen; Benitez Garcia, Beatriz; Bermejo, Fernando; Bernardo, David; Blazquez Gomez, Isabel; Bujanda, Luis 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

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:
Publication type: Paper in international publication
Authors: Armengol, Lluis; Fernandez-Alvarez, Paula; Rodriguez-Santiago, Benjamin; Segura-Puimedon, Maria; Tizzano, Eduardo; Valenzuela, Irene; Vendrell, Teresa 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

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:
Publication type: Paper in international publication
Authors: Besso, Maria Jose; Colas, Eva; Gil-Moreno, Antonio; Lapyckyj, Lara; Matos, Maria Laura; Mercogliano, Maria Florencia; Moiola, Cristian Pablo; Orti, Roberto; Reventos, Jaume; Rosso, Marina 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

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:
Publication type: Paper in international publication
Authors: Macaya, Alfons; Marce-Grau, Anna; Tolosa, Eduard; Valls-Sole, Josep; Vilas, Dolores 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

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:
Publication type: Letter or abstract
Authors: Fort Lopez-Barajas, Jose Manuel; Garcia Ruiz de Gordejuela, Amador; Roriz da Silva, Renato; Vilallonga Puy, Ramon 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

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:
Publication type: Paper in international publication
Authors: Barrabes, Jose A; Cohen, Ian J; Del Toro, Mireia; Feldman, Hagit Baris; Gutstein, Ariel; Kurolap, Alina; Shafir, Gideon; Spiegel, Ronen 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

[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:
Publication type: Paper in national publication
Authors: Alastruey-Izquierdo, Ana; Asensio, Angel; Besoli, Anna; Calabuig, Eva; Fernandez-Ruiz, Mario; Garcia-Vidal, Carolina; Gasch, Oriol; Guinea, Jesus; Martin-Gomez, Maria Teresa; Pano, Jose Ramon 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