Author

Rami Massie

McGill UniversityORCID 0000-0001-8219-1020Unclaimed 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 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandre JaneriD· 1 shared Ali Reza TavasoliiD· 1 shared André MégarbanéiD· 1 shared Ariana KariminejadiD· 1 shared Bernard BraisiD· 1 shared Bruno ReversadeiD· 1 shared Calista Ng· 1 shared Carine BonnardiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alexandre JanerORCID

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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

𝕏 PostBluesky

Genetic & Genomic MedicineHuman Molecular GeneticsPeer-reviewedJun 2, 2022

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation causing a distinct Mendelian Disorder

Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari…·Bruno Reversade

This study identifies two RBSN missense variants causing a Mendelian disorder with muscle weakness and intellectual disability by disrupting endosomal recycling and lysosomal degradation.

DOI 10.1093/hmg/ddac120

humanstatistical model

𝕏 PostBluesky