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Steffany Grondin
Steffany Grondin
Montreal Heart Institute
Cardiomyopathy
Missense mutation
Sudden cardiac death
Desmoplakin
Spectrin repeat
2
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3
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0
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A Novel Gain-of-function Variant in CACNA1C Associated with Timothy Syndrome, Multiple Accessory Pathways and Non-compaction Cardiomyopathy.
2020
Ken Kelu Bisabu
Juan Zhao
Alla-Eddine Mokrane
Emilie Segura
Mireille Marsolais
Steffany Grondin
Evelyne Naas
Johannie Gagnon
Julia Cadrin-Tourigny
Martin Aguilar
François-Pierre Mongeon
Mario Talajic
Lucie Parent
Rafik Tadros
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Citations (2)
Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.
2020
American Journal of Medical Genetics Part A
Steffany Grondin
Avedis‐Christ Wazirian
Paloma Jordá
Donato Gerardo Terrone
Johannie Gagnon
Laura Robb
Julie Amyot
Lena Rivard
Sylvain Pagé
Mario Talajic
Julia Cadrin-Tourigny
Rafik Tadros
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Citations (1)
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