Cornelius F. Boerkoel
University of British Columbia(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Immunodeficiency and Autoimmune Disorders, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources(2018)732 cited
- → Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy(2002)522 cited
- → Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome(2002)406 cited
- → Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia(2002)325 cited
- → GRIN2A mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine(2014)293 cited
- → The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases(2012)