Minassian, Berge A.
University of Toronto · Hospital for Sick Children
6 papers on CoChatORCID 0000-0002-9322-0189
Most cited papers
- Verified
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Klionsky, D. J., Abdelmohsen, K., Abe, A., Abedin, M. J., Abeliovich, H., Acevedo Arozena, A., Adachi, H., Adams, C. M., Adams, P. D., Adeli, K., et al. (2016) · Autophagy
Autophagy in Disease and TherapyCalcium signaling and nucleotide metabolism
Cited by 5,894
- Verified
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics
Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders
Cited by 445
- Verified
Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome
Jiang, X., Raju, P. K., D'Avanzo, N., Lachance, M., Pepin, J., Dubeau, F., Mitchell, W. G., Bello‐Espinosa, L. E., Pierson, T. M., Minassian, B. A., et al. (2019) · Epilepsia
Epilepsy research and treatmentIon channel regulation and function
Cited by 97
- Verified
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
Gut, P., Matilainen, S., Meyer, J. G., Pällijeff, P., Richard, J., Carroll, C. J., Euro, L., Jackson, C. B., Isohanni, P., Minassian, B. A., et al. (2020) · Nature Communications
Metabolism and Genetic DisordersMitochondrial Function and Pathology
Cited by 83
- Verified
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
Uddin, M., Woodbury-Smith, M., Chan, A., Brunga, L., Lamoureux, S., Pellecchia, G., Yuen, R. K. C., Faheem, M., Stavropoulos, D. J., Drake, J., et al. (2017) · Neurology Genetics
Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders
Cited by 57
- Verified
The role of common genetic variation in presumed monogenic epilepsies
Campbell, C., Leu, C., Feng, Y.-C. A., Wolking, S., Moreau, C., Ellis, C., Ganesan, S., Martins, H., Oliver, K., Boothman, I., et al. (2022) · eBioMedicine
Epilepsy research and treatmentGenomics and Rare Diseases
Cited by 42
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