Kym M. Boycott
Children's Hospital of Eastern Ontario(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology
Most-Cited Works
- → Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia(2011)1,161 cited
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → Rare-disease genetics in the era of next-generation sequencing: discovery to translation(2013)745 cited
- → De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes(2012)745 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases(2017)444 cited
- → Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care(2015)