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Kimberly Amburgey received her Master’s degree in genetic counseling from the University of Pittsburgh. She is currently the genetic counselor in the Pediatric Neuromuscular Clinic at the Hospital for Sick Children in Toronto. Kimberly is an instructor in the Department of Molecular Genetics at the University of Toronto. She also a member of the Canadian rare disease organization, Canadian Gene Cure Advanced Therapies for Rare Disease (Can-GARD). As a clinical researcher, she has worked on studies of the prevalence and natural history of congenital myopathies, genotype-phenotype correlations among patients with recessive RYR1 mutations, risk of malignant hyperthermia among patients with neuromuscular conditions, new gene discovery for congenital myopathies, and several clinical trials for innovative therapies for neuromuscular conditions. She was also part of the team that created the standard of care document for congenital myopathies for physicians and the family guide.
Al Amrani, F, Gorodetsky, C, Hazrati, LN, Amburgey, K, Gonorazky, HD, Dowling, JJ et al.. Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. Neurol Genet. 2020.6 (3)e423 PMID:32426512
O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V et al.. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am. J. Hum. Genet. 2019.104 (6)1210-1222 PMID:31079897
Al-Hashim, A, Gonorazky, HD, Amburgey, K, Das, S, Dowling, JJ. A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy. Neurol Genet. 2017.3 (5)e182 PMID:28852708
Amburgey, K, Tsuchiya, E, de Chastonay, S, Glueck, M, Alverez, R, Nguyen, CT et al.. A natural history study of X-linked myotubular myopathy. Neurology. 2017.89 (13)1355-1364 PMID:28842446
Gonorazky, HD, Amburgey, K, Yoon, G, Vajsar, J, Widjaja, E, Dowling, JJ et al.. Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy. Muscle Nerve. 2017.56 (5)E41-E44 PMID:28667691See more on PubMed