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Molecular Genetics and Metabolism Reports|May 26, 2017
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiencyNeal Sondheimer, Stacy Hewson, Jessie M Cameron, et al.
Molecular Genetics and Metabolism|October 1, 2014
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in CanadaAnne Roscher, Jaina Patel, Stacy Hewson, et al.
Child Neurology Open|May 21, 2021
The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian CohortDaad Alsowat, Robyn Whitney, Stacy Hewson, et al.
JIMD Reports|January 21, 2021
Outcomes of patients with cobalamin C deficiency: A single center experienceDanielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 17, 2017
Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet ClinicStacy Hewson, Ledia Brunga, Matilde Fernandez Ojeda, et al.
Genes|September 28, 2021
Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping PhenotypesZhuo Shao, Ikuo Masuho, Anupreet Tumber, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|April 13, 2025
Clinical Implementation and Outcomes of Genetic Testing for Epilepsy by the Ontario Epilepsy Genetic Testing ProgramTugce B Balci, Laila C Schenkel, Cassandra Rastin, et al.
Epilepsia|March 31, 2015
Diagnostic yield of genetic testing in epileptic encephalopathy in childhoodSaadet Mercimek-Mahmutoglu, Jaina Patel, Dawn Cordeiro, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
ALU transposition induces familial hypertrophic cardiomyopathyLandry Nfonsam, Lijia Huang, Nancy Carson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsyMin Ni, Bushra Afroze, Chao Xing, et al.
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