Cornelius F. Boerkoel

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 526 citations

Life Sciences, Genetics, Molecular Biology +15

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

Gayle B. Collin, Jan D. Marshall, Akihiro Ikeda et al. · Nature Genetics · 2002 · 409 citations · Full text

Life Sciences, Genetics, Neurology +12

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia

Cornelius F. Boerkoel, Hiroshi Takashima, Joy John et al. · Nature Genetics · 2002 · 330 citations

Life Sciences, Genetics, Molecular Biology +11

<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh et al. · Annals of Clinical and Translational Neurology · 2014 · 296 citations · Full text

Life Sciences, Neuroscience, Pharmacology +17