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2016
Tárraga J, Gallego A, Arnau V, Medina I, Dopazo J. HPG pore: an efficient and scalable framework for nanopore sequencing data. BMC bioinformatics. 2016;17:107. doi:10.1186/s12859-016-0966-0.
Sanchez-Mut JV, Heyn H, Vidal E, et al. Human DNA methylomes of neurodegenerative diseases show common epigenomic patterns. Transl Psychiatry. 2016;6:e718. doi:10.1038/tp.2015.214.
Corton M, Avila-Fernández A, Campello L, et al. Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa. Sci Rep. 2016;6:35370. doi:10.1038/srep35370.
Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep. 2016;6:23910. doi:10.1038/srep23910.
Garcia-Garcia F, Panadero J, Dopazo J, Montaner D. Integrated gene set analysis for microRNA studies. Bioinformatics. 2016;32(18):2809-16. doi:10.1093/bioinformatics/btw334.
Moschen S, Luoni SBengoa, Di Rienzo JA, et al. Integrating transcriptomic and metabolomic analysis to understand natural leaf senescence in sunflower. Plant Biotechnol J. 2016;14(2):719-34. doi:10.1111/pbi.12422.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
Ibáñez M, Carbonell-Caballero J, García-Alonso L, et al. The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations. PLoS One. 2016;11(2):e0148346. doi:10.1371/journal.pone.0148346.
Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.
Sevilla T, Lupo V, Martínez-Rubio D, et al. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain. 2016;139(Pt 1):62-72. doi:10.1093/brain/awv311.
Maroñas O, Latorre A, Dopazo J, et al. Progress in pharmacogenetics: consortiums and new strategies. Drug Metab Pers Ther. 2016;31(1):17-23. doi:10.1515/dmpt-2015-0039.
Urreizti R, Roca-Ayats N, Trepat J, et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. Am J Med Genet A. 2016;170A(1):24-31. doi:10.1002/ajmg.a.37418.
Razzoli M, Frontini A, Gurney A, et al. Stress-induced activation of brown adipose tissue prevents obesity in conditions of low adaptive thermogenesis. Mol Metab. 2016;5(1):19-33. doi:10.1016/j.molmet.2015.10.005.
Salavert F, García-Alonso L, Sánchez R, et al. Web-based network analysis and visualization using CellMaps. Bioinformatics. 2016;32(19):3041-3. doi:10.1093/bioinformatics/btw332.
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)
Gil-Ibañez P, Garcia-Garcia F, Dopazo J, Bernal J, Morte B. Global Transcriptome Analysis of Primary Cerebrocortical Cells: Identification of Genes Regulated by Triiodothyronine in Specific Cell Types. Cereb Cortex. 2017;27(1):706-717. doi:10.1093/cercor/bhv273.
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.
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.
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.
Juanes JM, Gallego A, Tárraga J, et al. VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy. BMC Bioinformatics. 2017;18(1):421. doi:10.1186/s12859-017-1837-z.
Juanes JM, Gallego A, Tárraga J, et al. VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy. BMC Bioinformatics. 2017;18(1):421. doi:10.1186/s12859-017-1837-z.