Publication & Citation Trends
Publications
215 total
Hypoxanthine-guanine phosphoribosyltransferase deficiency OA
Cited by 7
Semantic Scholar
Hereditary hyperekplexia OA
Cited by 2
Semantic Scholar
Addressing Cybersecurity Risks During the COVID-19 Pandemic.
Cited by 0
Semantic Scholar
Hereditary fructose intolerance OA
Cited by 91
Semantic Scholar
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care PDF
Cited by 391
OpenAlex
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists PDF
Cited by 234
OpenAlex
Analysis of Horse jump racing data and using predictive analytics to predict how many horses will fall in a race
Cited by 1
Semantic Scholar
Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance PDF
Cited by 595
OpenAlex
Hypothyroidism, Congenital
Cited by 1
Semantic Scholar
Research Topics
Metabolism and Genetic Disorders
(84)
Folate and B Vitamins Research
(27)
Mitochondrial Function and Pathology
(26)
Genomics and Rare Diseases
(20)
Genetic Neurodegenerative Diseases
(19)
Affiliations
Western University
The Honourable Society of Lincoln's Inn
Dalhousie University
Howard Hughes Medical Institute
Johns Hopkins University