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The science produced by our scientists is very important. In 2024, 1,501 papers were published in scientific journals with an average impact factor of over 7.13 points.

GEMC1 and MCIDAS interactions with SWI/SNF complexes regulate the multiciliated cell-specific transcriptional program.

PMID: 36932059
Journal: Cell Death & Disease
Year: 2023
Reference: Cell Death Dis. 2023 Mar 17;14(3):201. doi: 10.1038/s41419-023-05720-4.
Impact factor:
Publication type: Paper in international publication
Authors: Attolini, Camille Stephan-Otto; Cheng, Tao; Costanzo, Vincenzo; Coyaud, Etienne; Garcia-Cao, Isabel; Gil-Gomez, Gabriel; Knobel, Philip A; Lewis, Michael; Lu, Hao; Mahjoub, Moe R et al.
DOI: 10.1038/s41419-023-05720-4

General practitioners' perceptions on opportunistic single-time point screening for atrial fibrillation: A European quantitative survey.

PMID: 36873407
Journal: Frontiers in Cardiovascular Medicine
Year: 2023
Reference: Front Cardiovasc Med. 2023 Feb 15;10:1112561. doi: 10.3389/fcvm.2023.1112561. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Bergonti, Marco; Buckley, Claire M; Deharo, Jean-Claude; Desteghe, Lien; Engler, Daniel; Farkowski, Michal M; Freedman, Ben; Giskes, Katrina; Grecu, Mihaela; Hanson, Coral L et al.
DOI: 10.3389/fcvm.2023.1112561

Generation of a bank of clinical-grade, HLA-homozygous iPSC lines with high coverage of the Spanish population.

PMID: 38093328
Journal: Stem Cell Research & Therapy
Year: 2023
Reference: Stem Cell Res Ther. 2023 Dec 13;14(1):366. doi: 10.1186/s13287-023-03576-1.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Palomo, B; Aran, B; Castano, J; Kuebler, B; Querol Giner, S; Raya, A; Rodriguez, L; Veiga, A et al.
DOI: 10.1186/s13287-023-03576-1

Genetic Architecture of Ischaemic Strokes after COVID-19 Shows Similarities with Large Vessel Strokes.

PMID: 37686257
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2023
Reference: Int J Mol Sci. 2023 Aug 30;24(17):13452. doi: 10.3390/ijms241713452.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Simon, Ana; Bernardo, David; Carcel-Marquez, Jara; Cordioli, Mattia; Cullell, Natalia; Darcis, Gilles; de Felipe Mimbrera, Alicia; DeDiego, Marta L; Delgado, Pilar; Delgado, Pilar et al.
DOI: 10.3390/ijms241713452

Genetic influences on disease course and severity, 30 years after a clinically isolated syndrome.

PMID: 37841069
Journal: Brain communications
Year: 2023
Reference: Brain Commun. 2023 Oct 4;5(5):fcad255. doi: 10.1093/braincomms/fcad255. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Barkhof, Frederik; Brownlee, Wallace; Castano, Carlos; Chard, Declan; Chung, Karen; Ciccarelli, Olga; Dominguez, Carlos; Gandini Wheeler-Kingshott, Claudia A M; Gramegna, Laura Ludovica; Haider, Lukas et al.
DOI: 10.1093/braincomms/fcad255

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

PMID: 37432935
Journal: PLoS One
Year: 2023
Reference: PLoS One. 2023 Jul 11;18(7):e0287515. doi: 10.1371/journal.pone.0287515. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso-Cerezo, Maria Concepcion; Aurrekoetxea, Josu; Bahillo, Pilar; Bertholt, Laura; Camats, Nuria; Castano, Luis; Cortazar, Alicia; Esteva, Isabel; Fluck, Christa E; Grau, Gema et al.
DOI: 10.1371/journal.pone.0287515

Genetic testing in focal segmental glomerulosclerosis: in whom and when?

PMID: 37915894
Journal: Clinical Kidney Journal
Year: 2023
Reference: Clin Kidney J. 2023 Aug 10;16(11):2011-2022. doi: 10.1093/ckj/sfad193. eCollection 2023 Nov.
Impact factor:
Publication type: Paper in international publication
Authors: Avila, Ana; Aviles, Beatriz; Carrera, Noa; de la Prada Alvarez, Francisco Jose; de Lorenzo, Alberto; Fernandez-Juarez, Gema; Fernandez-Lorente, Loreto; Ferrer, Jaume; Garca-Gonzalez, Miguel Angel; Garcia-Carro, Clara et al.
DOI: 10.1093/ckj/sfad193

Genetics and natural history of non-pancreatectomised patients with congenital hyperinsulinism due to variants in ABCC8.

PMID: 37216904
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2023
Reference: J Clin Endocrinol Metab. 2023 May 22:dgad280. doi: 10.1210/clinem/dgad280.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Caimari, Maria; Camats-Tarruella, Nuria; Campos, Ariadna; Clemente, Maria; Cobo, Patricia; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Masas, Miriam et al.
DOI: 10.1210/clinem/dgad280

Genome-based epidemiology and antimicrobial resistance of Neisseria gonorrhoeae in Spain: a prospective multicentre study.

PMID: 37620291
Journal: JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
Year: 2023
Reference: J Eur Acad Dermatol Venereol. 2023 Aug 24. doi: 10.1111/jdv.19458.
Impact factor:
Publication type: Paper in international publication
Authors: Alcoceba, E; Arando, M; Buckley, C; Clavo, P; Romero, B; Salmeron, P; Serra-Pladevall, J; Whiley, D et al.
DOI: 10.1111/jdv.19458

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.

PMID: 36702997
Journal: NATURE GENETICS
Year: 2023
Reference: Nat Genet. 2023 Feb;55(2):198-208. doi: 10.1038/s41588-022-01285-8. Epub 2023 Jan 26.
Impact factor:
Publication type: Paper in international publication
Authors: Agerbo, Esben; Als, Thomas D; Andreassen, Ole Andreas; Athanasiadis, Georgios; Baekved-Hansen, Marie; Baldursson, Gisli; Banaschewski, Tobias; Bau, Claiton H D; Bellgrove, Mark; Bendl, Jaroslav et al.
DOI: 10.1038/s41588-022-01285-8

Genome-Wide Association Studies of Coffee Intake in UK/US Participants of European Ancestry Uncover Gene-Cohort Influences.

PMID: 37745582
Journal:
Year: 2023
Reference: medRxiv. 2023 Sep 11:2023.09.09.23295284. doi: 10.1101/2023.09.09.23295284. Preprint.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Aasvang, Eske; Abdellaoui, Abdel; Agresta, Ferdinando; Aufenacker, Theo; Berrevoet, Frederik; Bianchi, Sevim B; Burgmans, Ine; Chen, David; Courchesne-Krak, Natasia S; Davis, Lea K et al.
DOI: 10.1101/2023.09.09.23295284

Genome-wide DNA methylation analysis in an antimigraine-treated preclinical model of cortical spreading depolarization.

PMID: 36759321
Journal: CEPHALALGIA
Year: 2023
Reference: Cephalalgia. 2023 Feb;43(2):3331024221146317. doi: 10.1177/03331024221146317.
Impact factor:
Publication type: Paper in international publication
Authors: Cormand, Bru; Cuenca-Leon, Ester; Fernandez-Castillo, Noelia; Kulis, Marta; Macaya, Alfons; Martin-Subero, Jose Ignacio; Pozo-Rosich, Patricia; Queiros, Ana C; Sintas, Celia; Vila-Pueyo, Marta et al.
DOI: 10.1177/03331024221146317

Genome-wide multi-trait analysis of irritable bowel syndrome and related mental conditions identifies 38 new independent variants.

PMID: 37085903
Journal: Journal of Translational Medicine
Year: 2023
Reference: J Transl Med. 2023 Apr 21;21(1):272. doi: 10.1186/s12967-023-04107-5.
Impact factor:
Publication type: Paper in international publication
Authors: Alemany, Silvia; Alonso-Cotoner, Carmen; Cabana-Dominguez, Judit; Fakhreddine, Dana; Fakhreddine, Dana; Gonzalez-Castro, Ana Maria; Llonga, Natalia; Lobo, Beatriz; Palacio, Judit; Palacio, Judit et al.
DOI: 10.1186/s12967-023-04107-5

Genomic analysis of advanced breast cancer tumors from talazoparib-treated gBRCA1/2mut carriers in the ABRAZO study.

PMID: 37803017
Journal: npj Breast Cancer
Year: 2023
Reference: NPJ Breast Cancer. 2023 Oct 6;9(1):81. doi: 10.1038/s41523-023-00561-y.
Impact factor:
Publication type: Paper in international publication
Authors: Albacker, Lee A; Balmana, Judith; Balmana, Judith; Chelliserry, Jijumon; Chen, Ying; Conte, Umberto; Ettl, Johannes; Fasching, Peter A; Grischke, Eva-Maria; Hopkins, Julia F et al.
DOI: 10.1038/s41523-023-00561-y

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma.

PMID: 36854674
Journal: Nature Communications
Year: 2023
Reference: Nat Commun. 2023 Feb 28;14(1):1122. doi: 10.1038/s41467-023-36769-6.
Impact factor:
Publication type: Paper in international publication
Authors: Al-Shahrour, Fatima; Aller, Javier; Alvarez-Escola, Cristina; Bechmann, Nicole; Beuschlein, Felix; Calatayud, Maria; Caleiras, Eduardo; Calsina, Bruna; Cascon, Alberto; Curras-Freixes, Maria et al.
DOI: 10.1038/s41467-023-36769-6

Genomic characterisation of hormone receptor-positive breast cancer arising in very young women.

PMID: 36709040
Journal: ANNALS OF ONCOLOGY
Year: 2023
Reference: Ann Oncol. 2023 Apr;34(4):397-409. doi: 10.1016/j.annonc.2023.01.009. Epub 2023 Jan 25.
Impact factor:
Publication type: Paper in international publication
Authors: Bellet, M; Bernardo, A; Biasi, O; Bonnefoi, H; Brown, L C; Chia, S K; Ciruelos, E; Climent, M; Coates, A S; Coleman, R et al.
DOI: 10.1016/j.annonc.2023.01.009

Genomic Profiling and Clinical Outcomes of Targeted Therapies in Adult Patients with Soft Tissue Sarcomas.

PMID: 37998367
Journal: Cells
Year: 2023
Reference: Cells. 2023 Nov 15;12(22):2632. doi: 10.3390/cells12222632.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmad, Arif; Almuttawa, Abdullah; Azagra, Santiago; Bauerle, Wayne; Beckmann, Jan H; Bindal, Vivek; Bueter, Marco; Cabral, Francisco; Chirumamilla, Vasu; Clavien, Pierre-Alain et al.
DOI: 10.3390/cells12222632

Genomics improves risk stratification of adults with T-cell acute lymphoblastic leukemia patients enrolled in measurable residual disease-oriented trials.

PMID: 36325893
Journal: HAEMATOLOGICA
Year: 2023
Reference: Haematologica. 2023 Apr 1;108(4):969-980. doi: 10.3324/haematol.2022.281196.
Impact factor:
Publication type: Paper in international publication
Authors: Ardaiz, Maria Angeles; Artola, Teresa; Baena, Angela; Barba, Pere; Bernal, Teresa; Bigas, Anna; Cervera, Jose; Cladera, Antonia; Coll, Rosa; De Ugarriza, Paula Lopez et al.
DOI: 10.3324/haematol.2022.281196

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.

PMID: 37069360
Journal: NATURE MEDICINE
Year: 2023
Reference: Nat Med. 2023 Apr 17. doi: 10.1038/s41591-023-02268-w.
Impact factor:
Publication type: Paper in international publication
Authors: Adams, Hieab H H; Armstrong, Nicola J; Bastin, Mark E; Beiser, Alexa; Bordes, Constance; Bourgey, Mathieu; Bourque, Guillaume; Boutinaud, Philippe; Brodaty, Henry; Bulow, Robin et al.
DOI: 10.1038/s41591-023-02268-w

Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

PMID: 36436516
Journal: LANCET ONCOLOGY
Year: 2023
Reference: Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24.
Impact factor:
Publication type: Paper in international publication
Authors: Aretz, Stefan; Bajalica-Lagercrantz, Svetlana; Balmana, Judith; Barbosa-Matos, Rita; Benusiglio, Patrick R; Blanluet, Maud; Blatnik, Ana; Bours, Vicent; Brems, Hilde; Brunet, Joan et al.
DOI: 10.1016/S1470-2045(22)00643-X

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

PMID: 36687469
Journal: JHEP Reports
Year: 2023
Reference: JHEP Rep. 2022 Nov 16;5(2):100626. doi: 10.1016/j.jhepr.2022.100626. eCollection 2023 Feb.
Impact factor:
Publication type: Paper in international publication
Authors: Alam, Seema; Alonso, Estella M; Arikan, Cigdem; Arnell, Henrik; Azaz, Amer; Bernabeu, Jesus Quintero; Bezerra, Jorge A; Brecelj, Jernej; Broering, Dieter; Calvo, Pier Luigi et al.
DOI: 10.1016/j.jhepr.2022.100626

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

PMID: 37568403
Journal: Journal of Clinical Medicine
Year: 2023
Reference: J Clin Med. 2023 Jul 29;12(15):5003. doi: 10.3390/jcm12155003.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso, Milagros; Cambra, Ana; Carcavilla, Atilano; Cruz, Jaime; Ezquieta, Begona; Gonzalez-Casado, Isabel; Guillen-Navarro, Encarna; Lopez-Siguero, Juan Pedro; Medrano, Constancio; Pozo, Jesus et al.
DOI: 10.3390/jcm12155003

Geographical Requirements for the Applicability of the Results of the RACECAT Study to Other Stroke Networks.

PMID: 37830330
Journal: Journal of the American Heart Association
Year: 2023
Reference: J Am Heart Assoc. 2023 Oct 13:e029965. doi: 10.1161/JAHA.123.029965.
Impact factor:
Publication type: Paper in international publication
Authors: Arnold, Marcel; Bilgin, Cem; Castano, Oscar; Dequatre-Ponchelle, Nelly; Dobrocky, Tomas; Fischer, Urs; Goeldlin, Martina B; Gralla, Jan; Hutar, Jared; Jung, Simon et al.
DOI: 10.1161/JAHA.123.029965

Geriatric assessment in hematology scale predicts treatment tolerability in older patients diagnosed with hematological malignancies: The RETROGAH study.

PMID: 36404260
Journal: Journal of Geriatric Oncology
Year: 2023
Reference: J Geriatr Oncol. 2023 Jan;14(1):101401. doi: 10.1016/j.jgo.2022.10.016. Epub 2022 Nov 18.
Impact factor:
Publication type: Paper in international publication
Authors: Arnan, Montserrat; Bonanad, Santiago; Casado, Alfonso; Cruz-Jentoft, Alfonso J; de la Rubia, Javier; Encinas, Cristina; Fernandez, Patricia; Gironella, Mercedes; Gonzalez, Bernardo; Hernandez-Rivas, Jose Angel et al.
DOI: 10.1016/j.jgo.2022.10.016