Publicacions en col·laboració amb investigadors/es de Pierre and Marie Curie University (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

  3. Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease

    Annals of Neurology, Vol. 90, Núm. 1, pp. 35-42

2020

  1. Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

    Science Advances, Vol. 6, Núm. 24

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

    Nature Communications, Vol. 11, Núm. 1

2019

  1. Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

    The Lancet Neurology, Vol. 18, Núm. 12, pp. 1091-1102

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

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

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

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

  4. 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

  2. Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

    Neurobiology of Aging, Vol. 64, pp. 159.e5-159.e8

2017

  1. Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing

    Genome Biology, Vol. 18, Núm. 1

  2. Federated Experimentation Infrastructure Interconnecting Sites from Both Europe and South Korea (SmartFIRE)

    BUILDING THE FUTURE INTERNET THROUGH FIRE - 2016 FIRE BOOK: A RESEARCH AND EXPERIMENT BASED APPROACH (RIVER PUBLISHERS), pp. 717-743

  3. Federated experimentation infrastructure interconnecting sites from both Europe and South Korea (SmartFIRE)

    Building the Future Internet through FIRE: 2016 FIRE Book: a Research and Experimentation based Approach English (River Publishers), pp. 717-744

  4. NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

    Neurobiology of Aging, Vol. 57, pp. 247.e9-247.e13

2016

  1. Enabling SDN experimentation with wired and wireless resources: The smartFIRE facility

    Lecture Notes of the Institute for Computer Sciences, Social-Informatics and Telecommunications Engineering, LNICST