Area of research
Genetics · Molecular Biology
Research interest
Research focused on Transcriptome and RYR1, with related work in Dystonia, Uniparental disomy, Spinal muscular atrophy. Notable publications include 'Improving genetic diagnosis in Mendelian disease with transcriptome sequencing', 'Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy', and 'Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus'.
Recommendations for the Management of Initial and Refractory Pediatric Status Dystonicus
P76 The Canadian neuromuscular disease registry: a national spinal muscular atrophy registry for real world evidence
Uniparental disomy unveils a novel recessive mutation in POMT2
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy