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.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients. Hum Mutat. 2014;35(4):470-7. doi:10.1002/humu.22513.
Two Novel Mutations in the BCKDK Gene (Branched-Chain Keto-Acid Dehydrogenase Kinase) are Responsible of a Neurobehavioral Deficit in two Pediatric Unrelated Patients. Human mutation. 2014;35:470-7. doi:10.1002/humu.22513.
Integrated gene set analysis for microRNA studies. Bioinformatics. 2016;32(18):2809-16. doi:10.1093/bioinformatics/btw334.
. [Impact assessment on data protection in research projects]. Gac Sanit. 2020;34(5):521-523. doi:10.1016/j.gaceta.2019.10.006.
. Modeling human endometrial decidualization from the interaction between proteome and secretome. The Journal of clinical endocrinology and metabolism. 2011;96:706-16.
A versatile workflow to integrate RNA-seq genomic and transcriptomic data into mechanistic models of signaling pathways. PLoS Comput Biol. 2021;17(2):e1008748. doi:10.1371/journal.pcbi.1008748.
Visualization of automatically combined disease maps and pathway diagrams for rare diseases. Front Bioinform. 2023;3:1101505. doi:10.3389/fbinf.2023.1101505.
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.
. 10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020. EPMA J. 2020:1-133. doi:10.1007/s13167-020-00206-1.
. Precision medicine needs pioneering clinical bioinformaticians. Brief Bioinform. 2019;20(3):752-766. doi:10.1093/bib/bbx144.
. Evolution of the biosynthesis of di-myo-inositol phosphate, a marker of adaptation to hot marine environments. Environmental microbiology. 2011. doi:10.1111/j.1462-2920.2011.02621.x.
. Exploring the reasons for the large density of triplex-forming oligonucleotide target sequences in the human regulatory regions. BMC Genomics. 2006;7:63. Available at: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16566817.
. 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.
Early transcriptional defence responses in Arabidopsis cell suspension culture under high light conditions. Plant physiology. 2011;156:1439-56. Available at: http://www.plantphysiol.org/content/early/2011/04/29/pp.111.177766.short?keytype=ref&ijkey=ph5B6J2khjnqwzN.
Early transcriptional defense responses in Arabidopsis cell suspension culture under high-light conditions. Plant Physiol. 2011;156(3):1439-56. doi:10.1104/pp.111.177766.
Intrauterine growth restriction is associated with cardiac ultrastructural and gene expression changes related to the energetic metabolism in a rabbit model. Am J Physiol Heart Circ Physiol. 2013;305(12):H1752-60. doi:10.1152/ajpheart.00514.2013.
B2G-FAR, a species centered GO annotation repository. Bioinformatics (Oxford, England). 2011;27:919-924.
High-throughput functional annotation and data mining with the Blast2GO suite. Nucleic Acids Res. 2008;36(10):3420-35. doi:10.1093/nar/gkn176.
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.
SigPrimedNet: A Signaling-Informed Neural Network for scRNA-seq Annotation of Known and Unknown Cell Types. Biology (Basel). 2023;12(4). doi:10.3390/biology12040579.
. Integrating pathway knowledge with deep neural networks to reduce the dimensionality in single-cell RNA-seq data. BioData Min. 2022;15(1):1. doi:10.1186/s13040-021-00285-4.
. Programmed cell death activated by Rose Bengal in Arabidopsis thaliana cell suspension cultures requires functional chloroplasts. Journal of experimental botany. 2014. doi:10.1093/jxb/eru151.
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