Mark Tarnopolsky

41PUBLICATIONS
304CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsObstetrics and gynaecologyInfant and child health
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Publications (41)

|Jun 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease.

|May 05, 2026
Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.

|Dec 17, 2025
DEGS1-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature.

Mark Grinberg, Breanne Dale, Rajesh Ramachandrannair

|Sep 27, 2025
A Multi-Ingredient Supplement Improves Body Re-Composition, Ovarian Aging Markers, and Reproductive Success in Young and Middle-Aged Female Mice.

Alessandra Chiarot, Mahek Minhas, Nicoletta M de Maat

|Sep 11, 2025
Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.

Anika Menetrey, Mark Tarnopolsky, Sangeetha Yoganathan

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

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Frequent Collaborators

7 joint publications

Mats I Nilsson

3 joint publications

Hugh J McMillan

2 joint publications

Thomas J Hawke

2 joint publications

Chumei Li