selected publications
- RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci. Genome biology. 2024 Academic Article GET IT
- Minor intron-containing genes as an ancient backbone for viral infection?. PNAS nexus. 2024 Academic Article GET IT
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Lower respiratory tract microbiome composition and community interactions in smokers.
Access microbiology.
2023
Academic Article
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Times cited: 5 - CIC missense variants contribute to susceptibility for spina bifida. Human mutation. 2022 Academic Article GET IT
- Systems biology analysis of human genomes points to key pathways conferring spina bifida risk. Proceedings of the National Academy of Sciences of the United States of America. 2021 Academic Article GET IT
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Genome-wide bioinformatic analyses predict key host and viral factors in SARS-CoV-2 pathogenesis.
Communications biology.
2021
Academic Article
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Times cited: 31 -
A data-driven, high-throughput methodology to determine tissue-specific differentially methylated regions able to discriminate body fluids.
Electrophoresis.
2021
Academic Article
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Times cited: 3 - Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida. Genetics in medicine : official journal of the American College of Medical Genetics. 2021 Academic Article GET IT
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Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder.
NPJ genomic medicine.
2020
Academic Article
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Times cited: 12 -
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.
Human mutation.
2020
Academic Article
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Times cited: 14 - MATria: a unified centrality algorithm. BMC bioinformatics. 2019 Academic Article GET IT
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Threshold for neural tube defect risk by accumulated singleton loss-of-function variants.
Cell research.
2018
Article
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Times cited: 45 -
Secondary Use and Analysis of Big Data Collected for Patient Care.
Yearbook of medical informatics.
2017
Information Resource
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Times cited: 51 -
ATria: a novel centrality algorithm applied to biological networks.
BMC bioinformatics.
2017
Academic Article
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Times cited: 9 -
Metagenomics, Metatranscriptomics, and Metabolomics Approaches for Microbiome Analysis.
Evolutionary bioinformatics online.
2016
Information Resource
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Times cited: 336 -
Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.
Archives of biochemistry and biophysics.
2016
Academic Article
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Times cited: 10 -
Unbiased high-throughput characterization of mussel transcriptomic responses to sublethal concentrations of the biotoxin okadaic acid.
PeerJ.
2015
Academic Article
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Times cited: 15 - Evolutionary computation and QSAR research. Current computer-aided drug design. 2013 Information Resource GET IT
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The CHROMEVALOA database: a resource for the evaluation of Okadaic Acid contamination in the marine environment based on the chromatin-associated transcriptome of the mussel Mytilus galloprovincialis.
Marine drugs.
2013
Academic Article
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Times cited: 23 -
Biomedical data integration in computational drug design and bioinformatics.
Current computer-aided drug design.
2013
Information Resource
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Times cited: 12 - Exploring patterns of epigenetic information with data mining techniques. Current pharmaceutical design. 2013 Information Resource GET IT
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Random Forest classification based on star graph topological indices for antioxidant proteins.
Journal of theoretical biology.
2012
Academic Article
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Times cited: 44 -
Naïve Bayes QSDR classification based on spiral-graph Shannon entropies for protein biomarkers in human colon cancer.
Molecular bioSystems.
2012
Academic Article
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Times cited: 27 -
Data Integration in Genomic Medicine: Trends and Applications. Contribution of the IMIA Working Group on Informatics in Genomic Medicine.
Yearbook of medical informatics.
2012
Academic Article
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Times cited: 3 -
Machine learning techniques for single nucleotide polymorphism--disease classification models in schizophrenia.
Molecules (Basel, Switzerland).
2010
Academic Article
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Times cited: 24 -
Retrieval and management of medical information from heterogeneous sources, for its integration in a medical record visualisation tool.
International journal of electronic healthcare.
2010
Academic Article
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Times cited: 6