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Publications by Cassandre Labelle-Dumais

COL4A1 Mutations Cause Neuromuscular Disease With Tissue-Specific Mechanistic Heterogeneity

American Journal of Human Genetics

English

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COL4A1 Mutations as a Monogenic Cause of Cerebral Small Vessel Disease: A Systematic Review

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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

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Mutations in Bcl9 and Pygo Genes Cause Congenital Heart Defects by Tissue-Specific Perturbation of WNT/Β-Catenin Signaling

Genes and Development

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Dynamin 2 (DNM2) as Cause Of, and Modifier For, Human Neuromuscular Disease

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Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

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NPMc+ Cooperates With Flt3/Itd Mutations to Cause Acute Leukemia Recapitulating Human Disease

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Mutations in SEC63 Cause Autosomal Dominant Polycystic Liver Disease

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Tissue-Specific Mutations in BRAF and EGFR Necessitate Unique Therapeutic Approaches

Trends in Cancer

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Disease-Associated GPR56 Mutations Cause Bilateral Frontoparietal Polymicrogyria via Multiple Mechanisms

Journal of Biological Chemistry

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