Author

Justin Simo

McGill UniversityORCID 0009-0000-0878-7504Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Roberta La PianaiD· 2 shared Alana J. Mistry· 1 shared Alexandre JaneriD· 1 shared Allison Ann DilliottiD· 1 shared André MégarbanéiD· 1 shared Bernard BraisiD· 1 shared Emily DwoshiD· 1 shared Eric A. ShoubridgeiD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Roberta La PianaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintSep 17, 2025

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…·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.

DOI 10.1101/2025.09.17.25335877

humanwhole-genome sequencing

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedNov 15, 2024

Enhancing Variant of Uncertain Significance (VUS) Interpretation in Neurogenetics: Collaborative Experiences from a Tertiary Care Centre

Kayla Horowitz, Nellie H. Fotopoulos, Alana J. Mistry…·Sali M.K. Farhan

The paper describes how multidisciplinary VUS Rounds help classify and manage variants of uncertain significance in neurogenetics patients.

5 citations

human

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