Author

E Beaulieu

Centre Hospitalier Universitaire Sainte-Justine

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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Genetics· 1

Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

C. Casini RaggiiD· 1 shared Denis CyriD· 1 shared Farzaneh TamnanlooiD· 1 shared Grant A. MitchelliD· 1 shared Marie-Agnès M’Callum· 1 shared Massimiliano PaganelliiD· 1 shared Paula J. WatersiD· 1 shared Quang Toan Pham· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

C. Casini RaggiORCID

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1 paper

Recent·Most cited

NTBC dosing and outcomes in hereditary tyrosinemia type 1: insights from a representative human model and 99 patients

Quang Toan Pham, Farzaneh Tamnanloo, Marie-Agnès M’Callum, E Beaulieu, Rasha Mghabghab, Yves Théorêt, Grant A. Mitchell, the Quebec NTBC Study Group, Denis Cyr, Paula J. Waters, Y Doyon, Ugur Halac, C. Casini Raggi, Massimiliano Paganelli

This study identifies the minimal effective NTBC dose to prevent liver damage in HT1 using an in vitro model and validates it in 99 patients, while highlighting residual gene dysregulation linked to cancer risk.

bioRxiv · Oct 6, 2025 · PreprintGenetics