Author

Angela M. Martin Rios

University of California, Irvine

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Genetic & Genomic Medicine· 1

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Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Organism:human· 1 Approach:statistical model· 1

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Gisele Bentz PinoiD· 1 shared Karolina M. StępieńiD· 1 shared Katherine Hall· 1 shared Liliane GibbsiD· 1 shared Nishitha R. PillaiiD· 1 shared Patricia HalliD· 1 shared Paul J. OrchardiD· 1 shared Raymond WangiD· 1 shared

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1 paper

Recent·Most cited

Genetic & Genomic MedicineNeurology GeneticsPeer-reviewedNov 7, 2025

Expanding the phenotype spectrum of β-mannosidosis

Angela M. Martin Rios, Karolina M. Stępień, Liliane Gibbs…·Virginia E. Kimonis

The paper expands the clinical, biochemical, and brain imaging phenotype spectrum of β-mannosidosis by analyzing 44 patients and describing new features and genetic variants.

5 citations

humanbulk RNA-seq

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