Kym M. Boycott
University of Ottawa(CA)Children's Hospital of Eastern Ontario(CA)
Publications by Year
Research Areas
CRISPR and Genetic Engineering, Genomics and Rare Diseases, RNA modifications and cancer, RNA and protein synthesis mechanisms, RNA Research and Splicing
Most-Cited Works
- → FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project(2014)249 cited
- → Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability(2013)118 cited
- → Preclinical target validation using patient-derived cells(2015)53 cited
- → Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms(2014)13 cited
- → The RDI–Lancet Commission on Rare Diseases: improving visibility to address health-care disparities for 400 million people(2025)8 cited
- → How does personal utility depend on clinical setting? Evidence from 3 cohorts(2025)1 cited
- → IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA(2024)1 cited
- → Supplementary Figure 1 from Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype(2023)
- → The evolution of health data ecosystems: An international survey(2025)
- → Supplementary Figure 2 from Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype(2023)