Facultad de Informática
Centro académico
Baylor College of Medicine
Houston, Estados UnidosPublicacións en colaboración con investigadores/as de Baylor College of Medicine (12)
2021
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
Human Genetics, Vol. 140, Núm. 10, pp. 1471-1485
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Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome
Nature Communications, Vol. 12, Núm. 1
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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
Nature Communications, Vol. 12, Núm. 1
2020
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Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information
Nature Communications, Vol. 11, Núm. 1
2019
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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
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Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset
npj Parkinson's Disease, Vol. 5, Núm. 1
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Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability
npj Parkinson's Disease, Vol. 5, Núm. 1
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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
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Frequency of loss of function variants in LRRK2 in Parkinson disease
JAMA Neurology, Vol. 75, Núm. 11, pp. 1416-1422
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Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease
Neurobiology of Aging, Vol. 64, pp. 159.e5-159.e8
2017
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Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Genome Biology, Vol. 18, Núm. 1
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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