What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Gene, Mutation, Molecular biology and Phenotype.
His Genetics study is mostly concerned with Locus, Missense mutation, X chromosome, Walker–Warburg syndrome and TP63.
His work on X-linked intellectual disability, Regulation of gene expression and Gene duplication as part of general Gene study is frequently connected to Spermiogenesis, therefore bridging the gap between diverse disciplines of science and establishing a new relationship between them.
Hans van Bokhoven interconnects Endocrinology, Glycosylation, Haploinsufficiency, Internal medicine and Microcephaly in the investigation of issues within Mutation.
His study focuses on the intersection of Molecular biology and fields such as Frameshift mutation with connections in the field of Nonsense mutation, Retinitis pigmentosa, Transactivation and Alternative splicing.
His studies in Phenotype integrate themes in fields like Gene dosage, Intellectual disability and Medical genetics.
His most cited work include:
- Common genetic variants influence human subcortical brain structures. (610 citations)
- Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. (605 citations)
- Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. (592 citations)
What are the main themes of his work throughout his whole career to date?
The scientist’s investigation covers issues in Genetics, Gene, Mutation, Phenotype and Missense mutation.
His study in Genetics concentrates on Exome sequencing, Intellectual disability, X chromosome, Microcephaly and Frameshift mutation.
In his study, Neuroscience is strongly linked to Autism, which falls under the umbrella field of Intellectual disability.
His biological study spans a wide range of topics, including Genetic linkage and Developmental disorder.
His research in Microcephaly focuses on subjects like Haploinsufficiency, which are connected to Histone methyltransferase.
The study incorporates disciplines such as Ectodermal dysplasia, Endocrinology, Molecular biology, Internal medicine and Exon in addition to Mutation.
He most often published in these fields:
- Genetics (71.43%)
- Gene (30.45%)
- Mutation (24.44%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (71.43%)
- Neuroscience (11.65%)
- Gene (30.45%)
In recent papers he was focusing on the following fields of study:
Hans van Bokhoven mostly deals with Genetics, Neuroscience, Gene, Exome sequencing and Intellectual disability.
His Missense mutation, Microcephaly, Frameshift mutation, Penetrance and Allele study are his primary interests in Genetics.
His Neuroscience research is multidisciplinary, incorporating perspectives in EHMT1, Histone methyltransferase, Neurodevelopmental disorder, Autism and Kleefstra Syndrome.
His study in the fields of Phenotype, Gene expression and Mutation under the domain of Gene overlaps with other disciplines such as Genetic correlation.
His Exome sequencing research is multidisciplinary, relying on both In silico, Nonsense, Megalencephaly and Mendelian inheritance.
His Intellectual disability research incorporates elements of Young adult, Severity of illness and Autism spectrum disorder.
Between 2015 and 2021, his most popular works were:
- Novel genetic loci associated with hippocampal volume (160 citations)
- Novel genetic loci underlying human intracranial volume identified through genome-wide association (146 citations)
- Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders (78 citations)
In his most recent research, the most cited papers focused on:
Genetics, Neuroscience, Gene, Exome sequencing and Autism are his primary areas of study.
Microcephaly, Penetrance, Exome, Mutation and Frameshift mutation are among the areas of Genetics where the researcher is concentrating his efforts.
His work carried out in the field of Mutation brings together such families of science as Cerebellum and Hypoplasia.
His studies deal with areas such as EHMT1, Histone methyltransferase, Genome-wide association study, Neurodevelopmental disorder and Kleefstra Syndrome as well as Neuroscience.
His study in Gene focuses on Phenotype in particular.
His Autism research includes elements of Drosophila melanogaster and Long-term memory, Cognition.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
