Author

Grant A. Mitchell

Centre Hospitalier Universitaire Sainte-JustineORCID 0000-0002-0804-3676Unclaimed 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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Research Focus:differential expression· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandre JaneriD· 1 shared André MégarbanéiD· 1 shared Bernard BraisiD· 1 shared C. Casini RaggiiD· 1 shared Denis CyriD· 1 shared E Beaulieu· 1 shared Eric A. ShoubridgeiD· 1 shared Erin O’FerralliD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandre JanerORCID

Mutual co-authors in cluster

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2 papers

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

AMPD2 deficiency causes variable-onset Leigh syndrome and implicates cytosolic purine balance in the structural preservation of respiratory complex V

Justin Simo, Alexandre Janer, Hana Antonická, Gabrielle Macaron, André Mégarbané, Rami Massie, Erin O’Ferrall, Jason Karamchandani, Bernard Brais, Inge A. Meijer, Tanguy Demaret, Grant A. Mitchell, Valérie Triassi, Martine Tétreault, Eric A. Shoubridge, Roberta La Piana

This paper identifies bi-allelic AMPD2 variants as a cause of Leigh syndrome, showing they lead to complex V assembly defects and cytosolic purine imbalance.

medRxiv · Sep 17, 2025 · PreprintGenetic & Genomic Medicine