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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.

Gene expression signatures predict response to therapy with growth hormone.

PMID: 34045667
Journal: PHARMACOGENOMICS JOURNAL
Year: 2021
Reference: Pharmacogenomics J. 2021 Oct;21(5):594-607. doi: 10.1038/s41397-021-00237-5. Epub 2021 May 27.
Impact factor: 3.55
Publication type: Paper in international publication
Authors: Hagenas, Lars, Dahlgren, Jovanna, Deal, Cheri, Chatelain, Pierre, Clayton, Peter, Vangsoy-Hansen, Eirik, Coutant, Regis, Belgorosky, Alicia, Stevens, Adam, Murray, Philip et al.
DOI: 10.1038/s41397-021-00237-5

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

PMID: 34087982
Journal: Stem Cell Research
Year: 2021
Reference: Stem Cell Res. 2021 May;53:102338. doi: 10.1016/j.scr.2021.102338. Epub 2021 Apr 15.
Impact factor: 2.02
Publication type: Paper in international publication
Authors: Erceg, Slaven, Espinos, Carmen, Perez-Duenas, Belen, Sanchez-Alcazar, Jose Antonio, Villalon-Garcia, Irene, Darling, Alejandra, Machuca, Candela, Correa-Vela, Marta, Garcia-Navas, Deyanira et al.
DOI: 10.1016/j.scr.2021.102338

Generic acquisition protocol for quantitative MRI of the spinal cord.

PMID: 34400839
Journal: Nature protocols
Year: 2021
Reference: Nat Protoc. 2021 Oct;16(10):4611-4632. doi: 10.1038/s41596-021-00588-0. Epub 2021 Aug 16.
Impact factor: 0
Publication type: Review in international publication
Authors: Kinany, Nawal, Freund, Patrick, Finsterbusch, Jurgen, Foias, Alexandru, Fratini, Michela, Fukunaga, Issei, Wheeler-Kingshott, Claudia A M Gandini, Germani, Giancarlo, Gilbert, Guillaume, Giove, Federico et al.
DOI: 10.1038/s41596-021-00588-0

Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.

PMID: 34390440
Journal: JOURNAL OF CLINICAL IMMUNOLOGY
Year: 2021
Reference: J Clin Immunol. 2021 Nov;41(8):1804-1838. doi: 10.1007/s10875-021-01086-4. Epub 2021 Aug 14.
Impact factor: 8.317
Publication type: Paper in international publication
Authors: Rees, Helen, Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andres, Buchta, Mary, Hubscher, Katrin, Gamez-Diaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra et al.
DOI: 10.1007/s10875-021-01086-4

Genetic association study of childhood aggression across raters, instruments, and age.

PMID: 34330890
Journal: Translational Psychiatry
Year: 2021
Reference: Transl Psychiatry. 2021 Jul 30;11(1):413. doi: 10.1038/s41398-021-01480-x.
Impact factor: 6.222
Publication type: Paper in international publication
Authors: Ramos Quiroga, Josep Antoni, Karhunen, Ville, Hammerschlag, Anke R, Adkins, Daniel E, Border, Richard, Peterson, Roseann E, Prinz, Joseph A, Thiering, Elisabeth, Seppala, Ilkka, Vilor-Tejedor, Natalia et al.
DOI: 10.1038/s41398-021-01480-x

Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.

PMID: 33773637
Journal: LANCET NEUROLOGY
Year: 2021
Reference: Lancet Neurol. 2021 May;20(5):351-361. doi: 10.1016/S1474-4422(21)00031-4. Epub 2021 Mar 25.
Impact factor: 44.182
Publication type: Paper in international publication
Authors: Sharma, Pankaj, Traylor, Matthew, Persyn, Elodie, Tomppo, Liisa, Klasson, Sofia, Abedi, Vida, Bakker, Mark K, Torres, Nuria, Li, Linxin, Bell, Steven et al.
DOI: 10.1016/S1474-4422(21)00031-4

Genetic characterization of acute myeloid leukemia patients with mutations in IDH1/2 genes.

PMID: 33494038
Journal: LEUKEMIA RESEARCH
Year: 2021
Reference: Leuk Res. 2021 Feb;101:106492. doi: 10.1016/j.leukres.2020.106492. Epub 2021 Jan 11.
Impact factor: 3.156
Publication type: Letter whit IF
Authors: Sole, Francesc, Sierra, Jordi, Ortin, Xavier, Motllo, Cristina, Acha, Pamela, Hoyos, Montserrat, Pratcorona, Marta, Fuster-Tormo, Francisco, Palomo, Laura, Ortega, Esther et al.
DOI: 10.1016/j.leukres.2020.106492

Genetic counseling in prostate cancer: How to implement it in daily clinical practice?

PMID: 33059945
Journal: Actas Urologicas Espanolas
Year: 2021
Reference: Actas Urol Esp. 2021 Jan-Feb;45(1):8-20. doi: 10.1016/j.acuro.2020.08.009. Epub 2020 Oct 12.
Impact factor: 0.994
Publication type: Review in national publication
Authors: Borque-Fernando, A, Espilez, R, Miramar, D, Corbaton, D, Rodriguez, A, Castro, E, Mateo, J, Rello, L, Mendez, A, Gil Sanz, M J et al.
DOI: 10.1016/j.acuro.2020.08.009

Genetic evolution to tyrosine kinase inhibitory therapy in patients with EGFR-mutated non-small-cell lung cancer.

PMID: 34599295
Journal: BRITISH JOURNAL OF CANCER
Year: 2021
Reference: Br J Cancer. 2021 Nov;125(11):1561-1569. doi: 10.1038/s41416-021-01558-9. Epub 2021 Oct 1.
Impact factor: 7.64
Publication type: Paper in international publication
Authors: Martinez-Marti, Alex, Felip, Enriqueta, Mancuso, Francesco Mattia, Caratu, Ginevra, Matito, Judit, Nuciforo, Paolo, Sansano, Irene, Diaz-Mejia, Nely, Cedres, Susana, Callejo, Ana et al.
DOI: 10.1038/s41416-021-01558-9

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

PMID: 33452396
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y.
Impact factor: 4.38
Publication type: Paper in international publication
Authors: Cardero-Merlo, Rocio, Gordo, Gema, Iancu, Ionut F, Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreno, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel et al.
DOI: 10.1038/s41598-021-81093-y

Genetic overlap and causality between substance use disorder and attention-deficit and hyperactivity disorder.

PMID: 33244849
Journal: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
Year: 2021
Reference: Am J Med Genet B Neuropsychiatr Genet. 2021 Apr;186(3):140-150. doi: 10.1002/ajmg.b.32827. Epub 2020 Nov 27.
Impact factor: 3.568
Publication type: Paper in international publication
Authors: Vilar-Ribo, Laura, Rovira, Paula, Richarte, Vanesa, Corrales, Montserrat, Fadeuilhe, Christian, Arribas, Lorena, Casas, Miquel, Ramos-Quiroga, Josep Antoni, Ribases, Marta, Soler Artigas, Maria et al.
DOI: 10.1002/ajmg.b.32827

Genetic risk factors in drug-induced liver injury due to isoniazid-containing anti-tuberculosis drug regimens.

PMID: 33135175
Journal: CLINICAL PHARMACOLOGY & THERAPEUTICS
Year: 2021
Reference: Clin Pharmacol Ther. 2021 Apr;109(4):1125-1135. doi: 10.1002/cpt.2100. Epub 2020 Dec 5.
Impact factor: 6.889
Publication type: Paper in international publication
Authors: Watkins, Paul B, Daly, Ann K, Aithal, Guruprasad P, Ibanez, Luisa, Maitland-van der Zee, Anke-Hilse, Wadelius, Mia, Nicoletti, Paola, Devarbhavi, Harshad, Goel, Ashish, Venkatesan, Radha et al.
DOI: 10.1002/cpt.2100

Genetic susceptibility loci in genome-wide association study of cluster headache.

PMID: 34180076
Journal: ANNALS OF NEUROLOGY
Year: 2021
Reference: Ann Neurol. 2021 Aug;90(2):203-216. doi: 10.1002/ana.26146. Epub 2021 Jul 14.
Impact factor: 10.422
Publication type: Paper in international publication
Authors: Tronvik, Erling, Rosendaal, Frits R, Willems van Dijk, Ko, O'Connor, Emer, Fourier, Carmen, Thomas, Laurent F, Kristoffersen, Espen S, Fronczek, Rolf, Pozo-Rosich, Patricia, Jensen, Rigmor H et al.
DOI: 10.1002/ana.26146

Genetics of Chronic Lymphocytic Leukemia.

PMID: 34398552
Journal: CANCER JOURNAL
Year: 2021
Reference: Cancer J. 2021 Jul-Aug 01;27(4):259-265. doi: 10.1097/PPO.0000000000000538.
Impact factor: 3.36
Publication type: Review in international publication
Authors: Bosch, Francesc, Dalla-Favera, Riccardo et al.
DOI: 10.1097/PPO.0000000000000538

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.

PMID: 34002096
Journal: NATURE GENETICS
Year: 2021
Reference: Nat Genet. 2021 Jun;53(6):817-829. doi: 10.1038/s41588-021-00857-4. Epub 2021 May 17.
Impact factor: 38.33
Publication type: Paper in international publication
Authors: Borte, Sigrid, Mullins, Niamh, Forstner, Andreas J, O'Connell, Kevin S, Coombes, Brandon, Coleman, Jonathan R I, Qiao, Zhen, Als, Thomas D, Bigdeli, Tim B, Kubo, Michiaki et al.
DOI: 10.1038/s41588-021-00857-4

Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment.

PMID: 33767277
Journal: Scientific Reports
Year: 2021
Reference: Sci Rep. 2021 Mar 25;11(1):6846. doi: 10.1038/s41598-021-86349-1.
Impact factor: 4.38
Publication type: Paper in international publication
Authors: Pujol, Ramon, Rodriguez-Campello, Ana, Romeral, Gemma, Krupinski, Jurek, Marti-Fabregas, Joan, Montaner, Joan, Roquer, Jaume, Fernandez-Cadenas, Israel, March, Alvaro, Espejo, Eva et al.
DOI: 10.1038/s41598-021-86349-1

Genomic and transcriptomic analyses of breast cancer primaries and matched metastases in AURORA, the Breast International Group (BIG) molecular screening initiative.

PMID: 34183353
Journal: Cancer Discovery
Year: 2021
Reference: Cancer Discov. 2021 Nov;11(11):2796-2811. doi: 10.1158/2159-8290.CD-20-1647. Epub 2021 Jun 28.
Impact factor: 39.397
Publication type: Letter or abstract
Authors: Seyll, Ethel, Bliss, Judith M, Reis-Filho, Jorge S, Colleoni, Marco, Balic, Marija, Cardoso, Fatima, Albanell, Joan, Duhem, Caroline, Marreaud, Sandrine, Romagnoli, Dario et al.
DOI: 10.1158/2159-8290.CD-20-1647

Genomic Chaos (Multiple Copy Number Variations and Structural Reorganization) Detected in Two Prenatal Cases.

PMID: 34274931
Journal: CYTOGENETIC AND GENOME RESEARCH
Year: 2021
Reference: Cytogenet Genome Res. 2021;161(5):236-242. doi: 10.1159/000515653. Epub 2021 Jul 16.
Impact factor: 1.636
Publication type: Letter or abstract
Authors: Yeste, Diana, Auge, Marc, Puig, Laia, Perez, Cristina, Herrero, Marta, Costa, Marta, Palau, Nuria, de la Iglesia, Cristina, Lloveras, Elisabet, Canellas, Anna et al.
DOI: 10.1159/000515653

Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55-IL6ST Gene Region in Immature Dendritic Cells.

PMID: 35111166
Journal: Frontiers in Immunology
Year: 2021
Reference: Front Immunol. 2022 Jan 17;12:816930. doi: 10.3389/fimmu.2021.816930. eCollection 2021.
Impact factor: 7.561
Publication type: Paper in international publication
Authors: Mena, Jorge, Alloza, Iraide, Tulloch Navarro, Raquel, Aldekoa, Ane, Diez Garcia, Javier, Villanueva Etxebarria, Ane, Lindskog, Cecilia, Antiguedad, Alfredo, Boyero, Sabas, Mendibe-Bilbao, Maria Del Mar et al.
DOI: 10.3389/fimmu.2021.816930

Genomic testing for targeted oncology drugs: hopes against hype.

PMID: 33992745
Journal: ANNALS OF ONCOLOGY
Year: 2021
Reference: Ann Oncol. 2021 Jul;32(7):837-838. doi: 10.1016/j.annonc.2021.05.354. Epub 2021 May 13.
Impact factor: 32.976
Publication type: Editorail in international publication
Authors: Dienstmann, R, Tamborero, D et al.
DOI: 10.1016/j.annonc.2021.05.354

Genomic Testing in Patients with Metastatic Castration-resistant Prostate Cancer: A Pragmatic Guide for Clinicians.

PMID: 33494937
Journal: EUROPEAN UROLOGY
Year: 2021
Reference: Eur Urol. 2021 Apr;79(4):519-529. doi: 10.1016/j.eururo.2020.12.039. Epub 2021 Jan 23.
Impact factor: 20.096
Publication type: Review in international publication
Authors: Petrylak, Daniel P, Chowdhury, Simon, Olmos, David, Castro, Elena, Wirth, Manfred P, Mateo, Joaquin, Merseburger, Axel S, Waldron, Nick, Ribal, Maria J, Heidenreich, Axel et al.
DOI: 10.1016/j.eururo.2020.12.039

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

PMID: 34351388
Journal: Blood Advances
Year: 2021
Reference: Blood Adv. 2021 Aug 10;5(15):2987-3001. doi: 10.1182/bloodadvances.2020003397.
Impact factor: 6.799
Publication type: Paper in international publication
Authors: Budde, Ulrich, Baronciani, Luciano, Peake, Ian, Schneppenheim, Reinhard, Goodeve, Anne, Ahmadinejad, Minoo, Badiee, Zahra, Baghaipour, Mohammad-Reza, Benitez, Olga, Bodo, Imre et al.
DOI: 10.1182/bloodadvances.2020003397

GERD after Bariatric Surgery. Can We Expect Endoscopic Findings?

PMID: 34067532
Journal: Medicina-Lithuania
Year: 2021
Reference: Medicina (Kaunas). 2021 May 17;57(5). pii: medicina57050506. doi: 10.3390/medicina57050506.
Impact factor: 2.43
Publication type: Review in international publication
Authors: Vilallonga, Ramon, Sanchez-Cordero, Sergi, Umpierrez Mayor, Nicolas, Molina, Alicia, Cirera de Tudela, Arturo, Ruiz-Ucar, Elena, Carrasco, Manel Armengol et al.
DOI: 10.3390/medicina57050506

GesEPOC 2021: One More Step Towards Personalized Treatment of COPD.

PMID: 32980163
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Jan;57(1):9-10. doi: 10.1016/j.arbres.2020.08.002. Epub 2020 Sep 24.
Impact factor: 4.872
Publication type: Editorial in national publication
Authors: Calle, Myriam, Miravitlles, Marc, Soler-Cataluna, Juan Jose et al.
DOI: 10.1016/j.arbres.2020.08.002