Publicacións en colaboración con investigadores/as de Johns Hopkins University (8)

2021

  1. Correction to: Large‑scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease (Acta Neuropathologica, (2020), 140, 3, (341-358), 10.1007/s00401-020-02181-3)

    Acta Neuropathologica

2020

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

    Science Advances, Vol. 6, Núm. 24

  2. Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease

    Acta Neuropathologica, Vol. 140, Núm. 3, pp. 341-358

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. The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight

    Movement Disorders, Vol. 34, Núm. 12, pp. 1851-1863

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. 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