Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry
2019 · Scientific Reports · 110 citations
https://doi.org/10.1038/s41598-018-35852-z
E
Eduardo Pérez‐Palma
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Eduardo Pérez‐Palma is an academic researcher from Universidad del Desarrollo. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Genomic variations and chromosomal abnormalities. The author has an h-index of 26, co-authored 77 publications.
ORCID: 0000-0003-0546-5141Papers by this author
worksGene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
2020 · Genome Medicine · 70 citations
https://doi.org/10.1186/s13073-020-00725-6
Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies
2014 · PLoS ONE · 61 citations
https://doi.org/10.1371/journal.pone.0095413
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
2021 · Genetics in Medicine · 21 citations
https://doi.org/10.1016/j.gim.2021.11.004
<i>SLC6A1</i> variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
2023 · Brain · 20 citations
https://doi.org/10.1093/brain/awad292
Copy number variants in lipid metabolism genes are associated with gallstones disease in men
2019 · European Journal of Human Genetics · 6 citations
https://doi.org/10.1038/s41431-019-0501-7
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