Author

Andrew Symes

University of CalgaryORCID 0000-0003-2223-7909Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aneal KhaniD· 1 shared Hongliang ZhangiD· 1 shared Iman Al KhatibiD· 1 shared Jingti Deng· 1 shared Marina Kerr· 1 shared Shar-Yin Naomi HuangiD· 1 shared Timothy E. ShuttiD· 1 shared Yves G. PommieriD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperMolecular Biology

Aneal KhanORCID

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1 paper

Recent·Most cited

Molecular BiologyJournal of Biological ChemistryPeer-reviewedAug 24, 2022

Functional characterization of two variants in the mitochondrial topoisomerase gene TOP1MT that impact regulation of the mitochondrial genome

Iman Al Khatib, Jingti Deng, Andrew Symes…·Timothy E. Shutt

The paper characterizes two TOP1MT variants in a patient with hypertrophic cardiomyopathy, showing both impair mitochondrial functions but affect different aspects of mtDNA regulation.

17 citations

humanwhole-exome sequencing

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