publication venue for
- RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases 2014
- Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.. 19:431. 2024
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries. 19:187. 2024
- Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study. 17:15. 2022
- Correction to: Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study. 16:329. 2021
- Long-term health-related quality of life in patients treated with subcutaneous C1-inhibitor replacement therapy for the prevention of hereditary angioedema attacks: findings from the COMPACT open-label extension study. 16:86. 2021
- The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital. 16:357. 2021
- Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network. 15:89. 2020
- Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. 15:12. 2020
- Estimating the clinical cost of drug development for orphan versus non-orphan drugs. 14:12. 2019
- Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada. 14:70. 2019
- Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. 12:121. 2017
- Genotype-phenotype correlations in recessive RYR1-related myopathies. 8:117. 2013
- The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. 8:63-63. 2013