Rebecca Koch

Assistant Professor of Pediatrics

Pediatrics, Medical Genetics

rebecca.koch@duke.edu

DUMC Box 103857, 905 LaSalle St. GSRB1, Durham, NC 27710

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Scholarly Works - Preprints

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

Preprint · December 17, 2025 Full text Cite

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

Preprint · May 17, 2025 Delayed diagnosis of Mendelian disease substantially prevents early therapeutic intervention that could improve symptoms and prognosis. One major contributing challenge is the functional interpretation of non-coding variants that cause disease by altering ... Full text Link to item Cite