Publicacións en colaboración con investigadores/as de Medical University of Vienna (16)

2021

  1. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  2. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

2020

  1. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1

2019

  1. Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

    npj Parkinson's Disease, Vol. 5, Núm. 1

  2. Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

    npj Parkinson's Disease, Vol. 5, Núm. 1

  3. SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

    Movement Disorders, Vol. 34, Núm. 9, pp. 1333-1344

2018

  1. Frequency of loss of function variants in LRRK2 in Parkinson disease

    JAMA Neurology, Vol. 75, Núm. 11, pp. 1416-1422

2016

  1. An ontological model for managing professional expertise

    Knowledge Management Research and Practice, Vol. 14, Núm. 3, pp. 390-400

2014

  1. An ontology-based, mobile-optimized system for pharmacogenomic decision support at the point-of-care

    PLoS ONE, Vol. 9, Núm. 5

  2. An update on genomic CDS, a complex ontology for pharmacogenomics and clinical decision support

    CEUR Workshop Proceedings

  3. Exploring the Application of Deep Learning Techniques on Medical Text Corpora

    Studies in Health Technology and Informatics

  4. Ontology patterns-based transformation of clinical information

    Studies in Health Technology and Informatics

  5. Towards a global IT system for personalized medicine: The Medicine Safety Code initiative

    Studies in Health Technology and Informatics

  6. Towards a global IT system for personalized medicine: The medicine safety code initiative

    Studies in Health Technology and Informatics

  7. Using concept co-occurrences for a biomedical facts acquisition

    Studies in Health Technology and Informatics

  8. Visualising topic networks in infection control using word vector analysis

    Studies in Health Technology and Informatics