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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.
GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates. N Engl J Med. 2017;376(18):1794-1795. doi:10.1056/NEJMc1612804.
Roca-Ayats-2017NEJM - GGPS1 Mutation and Atypical Femoral Fractures with Bisphosphonates.pdf (214.03 KB)

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.
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.
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.
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.
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.
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.
Differential Features Between Chronic Skin Inflammatory Diseases Revealed in Skin-Humanized Psoriasis and Atopic Dermatitis Mouse Models. J Invest Dermatol. 2015. doi:10.1038/jid.2015.362.
Assessing technical performance in differential gene expression experiments with external spike-in RNA control ratio mixtures. Nature communications. 2014;5:5125. doi:10.1038/ncomms6125.
The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol. 2014;10:752. doi:10.15252/msb.20145222.
Sequencing and functional analysis of the genome of a nematode egg-parasitic fungus, Pochonia chlamydosporia. Fungal Genet Biol. 2014;65:69-80. doi:10.1016/j.fgb.2014.02.002.
Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. Mol Genet Metab. 2013;110(1-2):73-7. doi:10.1016/j.ymgme.2013.04.021.
Identification of yeast genes that confer resistance to chitosan oligosaccharide (COS) using chemogenomics. BMC genomics. 2012;13:267. doi:10.1186/1471-2164-13-267.
A map of human microRNA variation uncovers unexpectedly high levels of variability. Genome medicine. 2012;4:62. doi:10.1186/gm363.
Microarray analysis of Etrog citron (Citrus medica L.) reveals changes in chloroplast, cell wall, peroxidase and symporter activities in response to viroid infection. Molecular plant pathology. 2012. doi:10.1111/j.1364-3703.2012.00794.x.
Transcriptome profiling of the intoxication response of Tenebrio molitor larvae to Bacillus thuringiensis Cry3Aa protoxin. PloS one. 2012;7:e34624. doi:10.1371/journal.pone.0034624.
B2G-FAR, a species centered GO annotation repository. Bioinformatics (Oxford, England). 2011;27:919-924.
Discovery of an ebolavirus-like filovirus in europe. PLoS pathogens. 2011;7:e1002304.
myKaryoView: a light-weight client for visualization of genomic data. PLoS One. 2011;6(10):e26345. doi:10.1371/journal.pone.0026345.
. Profiling the venom gland transcriptomes of Costa Rican snakes by 454 pyrosequencing. BMC genomics. 2011;12:259.
Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome research. 2010;20:170-9.
Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome research. 2010;20:170-9.
Exploring the link between germline and somatic genetic alterations in breast carcinogenesis. PLoS One. 2010;5(11):e14078. doi:10.1371/journal.pone.0014078.
Functional analysis of multiple genomic signatures demonstrates that classification algorithms choose phenotype-related genes. Pharmacogenomics J. 2010;10(4):310-23. doi:10.1038/tpj.2010.35.