Cornelius F. Boerkoel mostly deals with Genetics, Mutation, Phenotype, Myelin and Pathology. His Frameshift mutation, Chromatin remodeling, Genomics, Exome sequencing and Gene study are his primary interests in Genetics. His research integrates issues of Peripheral neuropathy, Topoisomerase, TDP1 and Spinocerebellar ataxia in his study of Mutation.
His research in the fields of Exome overlaps with other disciplines such as Terminology. The Myelin study combines topics in areas such as Gene duplication and Neuropathology. His Pathology research is multidisciplinary, relying on both Unusual facies and Proteinuria.
His primary scientific interests are in Genetics, Schimke immuno-osseous dysplasia, Mutation, Pathology and Dysplasia. His study in Exome, Gene, Phenotype, Intellectual disability and Exon falls under the purview of Genetics. His work carried out in the field of Schimke immuno-osseous dysplasia brings together such families of science as Cancer research, Chromatin remodeling and Atrophy.
His Mutation research integrates issues from Myelin, Genetic heterogeneity and Molecular biology. His Molecular biology research includes themes of DNA methylation, Topoisomerase, TDP1 and Spinocerebellar ataxia. He has researched Dysplasia in several fields, including Focal segmental glomerulosclerosis, Nephrotic syndrome and Immunology.
Cornelius F. Boerkoel mainly investigates Genetics, Exome sequencing, Phenotype, Oxidative stress and Gene. His Exome sequencing research is multidisciplinary, incorporating elements of Glycome and Glycosylation. His work in the fields of Exome overlaps with other areas such as Skewed X-inactivation.
Cornelius F. Boerkoel focuses mostly in the field of Oxidative stress, narrowing it down to matters related to Cell biology and, in some cases, TDP1, Mitochondrial DNA and Infantile neuroaxonal dystrophy. His studies in Molecular biology integrate themes in fields like Mutation, Compound heterozygosity and Genotype. His work on Missense mutation is typically connected to Cortical Lewy body as part of general Mutation study, connecting several disciplines of science.
Cornelius F. Boerkoel spends much of his time researching Dysplasia, Biochemistry, Exome sequencing, Phenotype and Genetics. His primary area of study in Dysplasia is in the field of Schimke immuno-osseous dysplasia. His work on Exome as part of general Exome sequencing research is frequently linked to Extramural, bridging the gap between disciplines.
He works mostly in the field of Phenotype, limiting it down to concerns involving Translational research and, occasionally, Human Phenotype Ontology and Ontology. His Missense mutation study results in a more complete grasp of Mutation. His Mutation study is concerned with the field of Gene as a whole.
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The Human Phenotype Ontology in 2017
Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)
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;Gulam Mustafa Saifi.
Nature Genetics (2002)
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen.
Nucleic Acids Research (2019)
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome
Gayle B Collin;Jan D Marshall;Akihiro Ikeda;W Venus So.
Nature Genetics (2002)
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
Cornelius F. Boerkoel;Hiroshi Takashima;Joy John;Jiong Yan.
Nature Genetics (2002)
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
A. Jordanova;P. De Jonghe;C. F. Boerkoel;H. Takashima.
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.
Cornelius F. Boerkoel;Hiroshi Takashima;Carlos A. Garcia;Richard K. Olney.
Annals of Neurology (2002)
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
William A. Gahl;Thomas C. Markello;Camilo Toro;Karin Fuentes Fajardo.
Genetics in Medicine (2011)
NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules
Meral Gunay-Aygun;Tzipora C Falik-Zaccai;Thierry Vilboux;Yifat Zivony-Elboum.
Nature Genetics (2011)
Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy
Cornelius F. Boerkoel;Hiroshi Takashima;Pawel Stankiewicz;Carlos A. Garcia.
American Journal of Human Genetics (2001)
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