Publicacións en colaboración con investigadores/as de Queen Mary University of London (18)

2023

  1. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

    Brain : a journal of neurology, Vol. 146, Núm. 7, pp. 2869-2884

2022

  1. Multi-modality machine learning predicting Parkinson’s disease

    npj Parkinson's Disease, Vol. 8, Núm. 1

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

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

    Nature Communications, Vol. 12, Núm. 1

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

    Nature Communications, Vol. 12, Núm. 1

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

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

2020

  1. 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

  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. Research challenges in nextgen service orchestration

    Future Generation Computer Systems, Vol. 90, pp. 20-38

  5. 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. 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

2015

  1. Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): A genetic association study in UK Biobank

    The Lancet Respiratory Medicine, Vol. 3, Núm. 10, pp. 769-781