Publicaciones en colaboración con investigadores/as de Leiden University Medical Center (12)

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. BioHackathon 2015: Semantics of data for life sciences and reproducible research

    F1000Research, Vol. 9

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

    Nature Communications, Vol. 11, Núm. 1

2019

  1. BioHackathon series in 2013 and 2014: Improvements of semantic interoperability in life science data and services

    F1000Research, Vol. 8

  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