Home

Publications

Export 274 results:
Author Title Type [ Year(Asc)]
Filters: First Letter Of Last Name is R  [Clear All Filters]
2020
Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Bogliolo M, Pujol R, Aza-Carmona M, et al. Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies. J Med Genet. 2020;57(4):258-268. doi:10.1136/jmedgenet-2019-106249.
Martin-Broto J, Cruz J, Penel N, et al. Pazopanib for treatment of typical solitary fibrous tumours: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2020;21(3):456-466. doi:10.1016/S1470-2045(19)30826-5.
Galvez JM, Castillo-Secilla D, Herrera LJ, et al. Towards Improving Skin Cancer Diagnosis by Integrating Microarray and RNA-Seq Datasets. IEEE J Biomed Health Inform. 2020;24(7):2119-2130. doi:10.1109/JBHI.2019.2953978.
Casimiro-Soriguer CS, Rigual MM, Brokate-Llanos AM, et al. Using AnABlast for intergenic sORF prediction in the Caenorhabditis elegans genome. Bioinformatics. 2020;36(19):4827-4832. doi:10.1093/bioinformatics/btaa608.
2019
Cubuk C, Hidalgo MR, Amadoz A, et al. Differential metabolic activity and discovery of therapeutic targets using summarized metabolic pathway models. NPJ Syst Biol Appl. 2019;5:7. doi:10.1038/s41540-019-0087-2.
Martin-Broto J, Stacchiotti S, Lopez-Pousa A, et al. Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2019;20(1):134-144. doi:10.1016/S1470-2045(18)30676-4.
Martin-Broto J, Stacchiotti S, Lopez-Pousa A, et al. Pazopanib for treatment of advanced malignant and dedifferentiated solitary fibrous tumour: a multicentre, single-arm, phase 2 trial. Lancet Oncol. 2019;20(1):134-144. doi:10.1016/S1470-2045(18)30676-4.
Perez-Gil D, Lopez FJ, Dopazo J, Marin-Garcia P, Rendon A, Medina I. PyCellBase, an efficient python package for easy retrieval of biological data from heterogeneous sources. BMC Bioinformatics. 2019;20(1):159. doi:10.1186/s12859-019-2726-4.
Peña-Chilet M, Esteban-Medina M, Falco MM, et al. Using mechanistic models for the clinical interpretation of complex genomic variation. Scientific Reports. 2019;9(1). doi:10.1038/s41598-019-55454-7.
2018
Ferreira PG, Muñoz-Aguirre M, Reverter F, et al. The effects of death and post-mortem cold ischemia on human tissue transcriptomes. Nat Commun. 2018;9(1):490. doi:10.1038/s41467-017-02772-x.
López M, Rueda A, Florido JP, et al. Evolution of the Quorum network and the mobilome (plasmids and bacteriophages) in clinical strains of Acinetobacter baumannii during a decade. Sci Rep. 2018;8(1):2523. doi:10.1038/s41598-018-20847-7.
Hernáez JRodríguez, Cucchi MEsperanza, Cravero S, et al. The first complete genomic structure of Butyrivibrio fibrisolvens and its chromid. Microb Genom. 2018;4(10). doi:10.1099/mgen.0.000216.
Wu GAlbert, Terol J, Ibañez V, et al. Genomics of the origin and evolution of Citrus. Nature. 2018;554(7692):311-316. doi:10.1038/nature25447.
Wu GAlbert, Terol J, Ibañez V, et al. Genomics of the origin and evolution of Citrus. Nature. 2018;554(7692):311-316. doi:10.1038/nature25447.
Cobo-Vuilleumier N, Lorenzo PI, Rodríguez NGarcía, et al. LRH-1 agonism favours an immune-islet dialogue which protects against diabetes mellitus. Nat Commun. 2018;9(1):1488. doi:10.1038/s41467-018-03943-0.
Cobo-Vuilleumier N, Lorenzo PI, Rodríguez NGarcía, et al. LRH-1 agonism favours an immune-islet dialogue which protects against diabetes mellitus. Nat Commun. 2018;9(1):1488. doi:10.1038/s41467-018-03943-0.
2017
Gonzalez S, Clavijo B, Rivarola M, et al. ATGC transcriptomics: a web-based application to integrate, explore and analyze de novo transcriptomic data. BMC Bioinformatics. 2017;18(1):121. doi:10.1186/s12859-017-1494-2.
Roca-Ayats N, Balcells S, Garcia-Giralt N, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 2017;376(18):1794-1795. doi:10.1056/NEJMc1612804.PDF icon Roca-Ayats-2017NEJM - GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.pdf (214.03 KB)
Roca-Ayats N, Balcells S, Garcia-Giralt N, et al. GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 2017;376(18):1794-1795. doi:10.1056/NEJMc1612804.PDF icon Roca-Ayats-2017NEJM - GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.pdf (214.03 KB)
Lopez J, Coll J, Haimel M, et al. HGVA: the Human Genome Variation Archive. Nucleic Acids Res. 2017;45(W1):W189-W194. doi:10.1093/nar/gkx445.
Lopez J, Coll J, Haimel M, et al. HGVA: the Human Genome Variation Archive. Nucleic Acids Res. 2017;45(W1):W189-W194. doi:10.1093/nar/gkx445.
Moschen S, Di Rienzo JA, Higgins J, et al. Integration of transcriptomic and metabolic data reveals hub transcription factors involved in drought stress response in sunflower (Helianthus annuus L.). Plant Mol Biol. 2017;94(4-5):549-564. doi:10.1007/s11103-017-0625-5.
Matalonga L, Bravo M, Serra-Peinado C, et al. Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. Hum Mutat. 2017;38(2):148-151. doi:10.1002/humu.23145.
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 2017;18:48. doi:10.1186/s13059-017-1174-6.