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2022
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
2021
Ostaszewski M, Niarakis A, Mazein A, et al. COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms. Mol Syst Biol. 2021;17(10):e10387. doi:10.15252/msb.202110387.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.
Vázquez-Costa JFrancisco, Payá-Montes M, Martínez-Molina M, et al. Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome. Front Mol Neurosci. 2021;14:721047. doi:10.3389/fnmol.2021.721047.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
Mirzayi C, Renson A, Zohra F, et al. Reporting guidelines for human microbiome research: the STORMS checklist. Nat Med. 2021;27(11):1885-1892. doi:10.1038/s41591-021-01552-x.
2020
Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Res. 2020;9. doi:10.12688/f1000research.24887.1.
Salgado D, Armean IM, Baudis M, et al. The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research. F1000Research. 2020;9:1229. doi:10.12688/f1000research10.12688/f1000research.24887.1.
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.
Bojic S, Falco MM, Stojkovic P, et al. Platform to study intracellular polystyrene nanoplastic pollution and clinical outcomes. Stem Cells. 2020;38(10):1321-1325. doi:10.1002/stem.3244.
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
Menden MP, Wang D, Mason MJ, et al. Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen. Nat Commun. 2019;10(1):2674. doi:10.1038/s41467-019-09799-2.
Menden MP, Wang D, Mason MJ, et al. Community assessment to advance computational prediction of cancer drug combinations in a pharmacogenomic screen. Nat Commun. 2019;10(1):2674. doi:10.1038/s41467-019-09799-2.
2018
Fourati S, Talla A, Mahmoudian M, et al. A crowdsourced analysis to identify ab initio molecular signatures predictive of susceptibility to viral infection. Nature Communications. 2018;9(1). doi:10.1038/s41467-018-06735-8.
2017
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)
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.
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(1). doi:10.1186/s13059-017-1174-6.
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.
2016
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.
Puchades-Carrasco L, Jantus-Lewintre E, Pérez-Rambla C, et al. Serum metabolomic profiling facilitates the non-invasive identification of metabolic biomarkers associated with the onset and progression of non-small cell lung cancer. Oncotarget. 2016;7(11):12904-16. doi:10.18632/oncotarget.7354.