What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
His scientific interests lie mostly in Genetics, Lissencephaly, Mutation, Pathology and Neuroscience.
All of his Genetics and Gene, Phenotype, Microcephaly, Fluorescence in situ hybridization and X chromosome investigations are sub-components of the entire Genetics study.
His work deals with themes such as Neuronal migration disorder and Agenesis of the corpus callosum, which intersect with Lissencephaly.
Within one scientific family, William B. Dobyns focuses on topics pertaining to Genotype under Mutation, and may sometimes address concerns connected to Bioinformatics.
His Pathology research includes elements of Cortical dysplasia, Hemimegalencephaly, Magnetic resonance imaging and Epilepsy.
His study in the field of Cerebral cortex, Polymicrogyria, Cortex and Neurogenesis also crosses realms of Structural organization.
His most cited work include:
- Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel (1377 citations)
- Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats (897 citations)
- doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein (888 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Pathology, Lissencephaly, Mutation and Polymicrogyria.
Phenotype, Gene, Missense mutation, Microcephaly and Locus are among the areas of Genetics where the researcher is concentrating his efforts.
William B. Dobyns interconnects Magnetic resonance imaging, Endocrinology, Hemimegalencephaly and Central nervous system disease in the investigation of issues within Pathology.
His Lissencephaly research includes themes of Neuroscience and X chromosome.
His Mutation research is mostly focused on the topic Exome sequencing.
His Polymicrogyria research focuses on subjects like Anatomy, which are linked to Cerebellum.
He most often published in these fields:
- Genetics (47.27%)
- Pathology (27.09%)
- Lissencephaly (20.00%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (47.27%)
- Intellectual disability (7.64%)
- Phenotype (19.82%)
In recent papers he was focusing on the following fields of study:
William B. Dobyns mainly investigates Genetics, Intellectual disability, Phenotype, Pathology and Missense mutation.
His Genetics research is multidisciplinary, incorporating perspectives in Perisylvian polymicrogyria and Cerebellar vermis.
His studies deal with areas such as Global developmental delay, Neurodevelopmental disorder, Autism, Autism spectrum disorder and Epilepsy as well as Intellectual disability.
His studies deal with areas such as Hypotonia, Pediatrics and Exome sequencing as well as Epilepsy.
His Pathology research is multidisciplinary, incorporating elements of White matter, Neuroimaging and Cortex.
His Mutation research focuses on Multipolar spindles and how it relates to Polymicrogyria.
Between 2018 and 2021, his most popular works were:
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development (27 citations)
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development (27 citations)
- Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum (24 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
William B. Dobyns spends much of his time researching Genetics, Exome, Phenotype, Cerebellum and Exome sequencing.
His Genetics study combines topics in areas such as Perisylvian polymicrogyria and Cerebellar vermis.
His research on Phenotype concerns the broader Gene.
His Cerebellum research is multidisciplinary, incorporating perspectives in Rhombic lip, Autism, Bioinformatics and Epilepsy.
His work in Epilepsy covers topics such as Intellectual disability which are related to areas like Etiology.
His research investigates the connection with Exome sequencing and areas like PDGFRB which intersect with concerns in Growth factor receptor and Cancer research.
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