Author

Rebecca L. Koch

Duke UniversityORCID 0000-0002-5387-3185Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Alexias SafiiD· 1 shared Andrew S. AlleniD· 1 shared Apoorva K. IyengariD· 1 shared Catherine Weaver RehderiD· 1 shared Deberah S. Goldman· 1 shared Deeksha Sarihyan BaliiD· 1 shared Erin E. ChowniD· 1 shared Gregory E. CrawfordiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Alexias SafiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineJIMD ReportsPeer-reviewedApr 6, 2026

Unifying the communities of early-onset glycogen storage disease type IV and adult polyglucosan body disease through a genetic prevalence study of GBE1-related disease

Rebecca L. Koch, Hasan Orhan Akman, Erin E. Chown…·Samantha M. Baxter

This paper estimates the global prevalence of GSD IV and APBD by analyzing GBE1 variants across nine genetic groups, finding 1 in 235,784 individuals are affected.

DOI 10.1002/jmd2.70080

humanDNA methylation

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GeneticsGenetics in Medicine OpenPeer-reviewedNov 20, 2025

Cell modeling and rescue of a novel non-coding genetic cause of Glycogen Storage Disease IX

Apoorva K. Iyengar, Xue Zou, Jian Dai…·Timothy E. Reddy

The paper identifies a non-coding variant causing GSD IX γ2, validates its splicing effects, and demonstrates reversal using antisense oligonucleotides.

DOI 10.1016/j.gimo.2025.103474

humanbulk RNA-seq

𝕏 PostBluesky