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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.
Fouarge, E, Monseur, A, Boulanger, B, Annoussamy, M, Seferian, AM, De Lucia, S et al.. Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Orphanet J Rare Dis. 2021.16 (1)3 PMID:33407688
Amburgey, K, Acker, M, Saeed, S, Amin, R, Beggs, AH, Bönnemann, CG et al.. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021. PMID:33397769
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:28852708See more on PubMed