Author

Ha Eun Cho

Massachusetts Eye and Ear InfirmaryORCID 0000-0001-6068-6735Unclaimed ORCID profile · follow to get notified of new preprints

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Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Assay:protein sequence· 1 Research Focus:variant effect prediction· 1

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Jason ComanderiD· 1 shared Kannan Vrindavan ManianiD· 1 shared Leila Azizzadeh PormehriD· 1 shared

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2025-2025 · peak 1/yr

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1 shared paperGenetics

Jason ComanderORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintJan 31, 2025

Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene

Leila Azizzadeh Pormehr, Kannan Vrindavan Manian, Ha Eun Cho, Jason Comander

The paper develops and validates high-throughput assays to assess RPE65 variant expression levels, aiding in reclassifying variants of unknown significance as pathogenic.

DOI 10.1101/2025.01.31.635952

humanprotein sequence

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