Author

Erin E. Chown

Hospital for Sick ChildrenORCID 0000-0003-1144-0821Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ami M. Perri· 1 shared Berge Arakel MinassianiD· 1 shared Cameron A. Ackerley· 1 shared Deberah S. Goldman· 1 shared Felix NitschkéiD· 1 shared Harriet Saxe· 1 shared Hasan Orhan AkmaniD· 1 shared Jeff Levenson· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 20 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperMolecular Biology

Ami M. Perri

Mutual co-authors in cluster

Author profile →

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

𝕏 PostBluesky

Molecular BiologybioRxivPreprintMar 6, 2018

Deficiency of the E3 Ubiquitin Ligase RBCK1 Causes Diffuse Brain Polyglucosan Accumulation and Neurodegeneration

Mitchell Anthony Sullivan, Felix Nitschké, Erin E. Chown…·Berge Arakel Minassian

This study shows that RBCK1 deficiency in mice leads to brain polyglucosan accumulation and neurodegeneration, similar to Lafora disease but with distinct regional and subcellular features.

3 citations

mouseexperimental assay

𝕏 PostBluesky