What is he best known for?
The fields of study he is best known for:
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 most cited work include:
- The Human Phenotype Ontology in 2017 (471 citations)
- Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. (407 citations)
- Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome (300 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Genetics (51.35%)
- Schimke immuno-osseous dysplasia (21.62%)
- Mutation (19.46%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (51.35%)
- Exome sequencing (20.00%)
- Phenotype (15.68%)
In recent papers he was focusing on the following fields of study:
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.
Between 2015 and 2021, his most popular works were:
- The Human Phenotype Ontology in 2017 (471 citations)
- Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. (276 citations)
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency (64 citations)
In his most recent research, the most cited papers focused on:
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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