What is he best known for?
The fields of study he is best known for:
Bobby P. C. Koeleman spends much of his time researching Genetics, Immunology, Allele, Genome-wide association study and Epilepsy.
The various areas that he examines in his Immunology study include Activated protein C resistance, PTPN22, Protein C deficiency, Protein C and Type 1 diabetes.
His Protein C deficiency study incorporates themes from Factor V Leiden, Molecular biology, Protein S and Gene mutation.
He interconnects Disease, Genetic predisposition and Genotype in the investigation of issues within Allele.
His Genome-wide association study research includes elements of SNP, Genetic association and Heritability.
His Epilepsy research includes themes of Intellectual disability, Missense mutation and Pediatrics.
His most cited work include:
- Mutation in blood coagulation factor V associated with resistance to activated protein C (3444 citations)
- Analysis of shared heritability in common disorders of the brain (726 citations)
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy (464 citations)
What are the main themes of his work throughout his whole career to date?
Bobby P. C. Koeleman mainly focuses on Genetics, Epilepsy, Immunology, Genome-wide association study and Allele.
His research in Epilepsy intersects with topics in Phenotype, Missense mutation, Pediatrics and Bioinformatics.
His Immunology research is multidisciplinary, relying on both Type 1 diabetes, Case-control study, Genetic predisposition and Genotype.
His research integrates issues of Odds ratio and Internal medicine in his study of Genotype.
The study incorporates disciplines such as SNP, PTPN22, Genetic variation and Heritability in addition to Genome-wide association study.
The Allele study combines topics in areas such as Disease, Rheumatoid arthritis and Polymerase chain reaction.
He most often published in these fields:
- Genetics (52.17%)
- Epilepsy (29.13%)
- Immunology (32.61%)
What were the highlights of his more recent work (between 2018-2021)?
- Epilepsy (29.13%)
- Genetics (52.17%)
- Pediatrics (10.00%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Epilepsy, Genetics, Pediatrics, Genome-wide association study and Phenotype.
His Epilepsy study combines topics in areas such as Internal medicine, Cohort, Confounding and Missense mutation.
Bobby P. C. Koeleman undertakes multidisciplinary studies into Genetics and Genomic medicine in his work.
The concepts of his Pediatrics study are interwoven with issues in Meta-analysis, Refractory juvenile myoclonic epilepsy and Juvenile myoclonic epilepsy.
The subject of his Genome-wide association study research is within the realm of Single-nucleotide polymorphism.
His Single-nucleotide polymorphism research incorporates themes from Pharmacogenetics and Risk factor.
Between 2018 and 2021, his most popular works were:
- GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways (33 citations)
- A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy (27 citations)
- IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients (22 citations)
In his most recent research, the most cited papers focused on:
Bobby P. C. Koeleman focuses on Epilepsy, Genetics, Pediatrics, Missense mutation and Phenotype.
His Epilepsy research is multidisciplinary, incorporating perspectives in Quality of life, Affect and Medical record.
His studies deal with areas such as Meta-analysis, Neurology, CBCL and Refractory juvenile myoclonic epilepsy as well as Pediatrics.
His research in Missense mutation intersects with topics in Encephalopathy, Intellectual disability, Cerebellar atrophy, Endocytosis and Physiology.
Bobby P. C. Koeleman studied Generalized epilepsy and Comorbidity that intersect with Genome-wide association study.
His study with Genome-wide association study involves better knowledge in Single-nucleotide polymorphism.
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