Author

Natacha T Pires

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Deberah S. Goldman· 1 shared Erin E. ChowniD· 1 shared Harriet Saxe· 1 shared Hasan Orhan AkmaniD· 1 shared Jeff Levenson· 1 shared Jennifer L. Orthmann‐MurphyiD· 1 shared Lindsay T. Michalovicz GilliD· 1 shared Matthew Morgan· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Deberah S. Goldman

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1 paper

Recent·Most cited

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, Deberah S. Goldman, Jeff Levenson, Qing Ling Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, 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.

JIMD Reports · Apr 6, 2026Peer-reviewedGenetic & Genomic Medicine