What is he best known for?
The fields of study he is best known for:
Genetics, Mutation, Filamin, Missense mutation and Phenotype are his primary areas of study.
His research on Genetics often connects related topics like Cell biology.
His biological study spans a wide range of topics, including Xenopus, Dysplasia, Wilms' tumor and Exon.
FLNA and FLNB are the subjects of his Filamin studies.
Stephen P. Robertson works mostly in the field of Missense mutation, limiting it down to concerns involving Osteochondrodysplasia and, occasionally, Proband, Molecular pathogenesis and MEDLINE.
His Actin cytoskeleton research extends to Phenotype, which is thematically connected.
His most cited work include:
- Nosology and classification of genetic skeletal disorders : 2010 revision (539 citations)
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (335 citations)
- Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (335 citations)
What are the main themes of his work throughout his whole career to date?
Stephen P. Robertson focuses on Genetics, Phenotype, FLNA, Filamin and Pathology.
His Genetics study frequently draws connections between adjacent fields such as FLNB.
Stephen P. Robertson combines subjects such as Larsen syndrome and Boomerang dysplasia with his study of FLNB.
His study on Phenotype is mostly dedicated to connecting different topics, such as Allele.
He has included themes like Actin cytoskeleton and Cell biology, Actin in his Filamin study.
His study looks at the relationship between Dysplasia and fields such as Osteochondrodysplasia, as well as how they intersect with chemical problems.
He most often published in these fields:
- Genetics (42.35%)
- Phenotype (21.43%)
- FLNA (20.92%)
What were the highlights of his more recent work (between 2017-2021)?
- Genetics (42.35%)
- Exome sequencing (8.67%)
- Phenotype (21.43%)
In recent papers he was focusing on the following fields of study:
Stephen P. Robertson mostly deals with Genetics, Exome sequencing, Phenotype, Cell biology and Missense mutation.
His work in Genetics is not limited to one particular discipline; it also encompasses FLNB.
He interconnects Axon guidance, FLNA and Organoid in the investigation of issues within Phenotype.
His research integrates issues of Gene, Frontometaphyseal dysplasia and Pathology in his study of FLNA.
His Cell biology study combines topics from a wide range of disciplines, such as Cerebral cortex, Filamin and Gene isoform.
His Missense mutation study contributes to a more complete understanding of Mutation.
Between 2017 and 2021, his most popular works were:
- Nosology and classification of genetic skeletal disorders: 2019 revision. (126 citations)
- Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia (66 citations)
- Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. (45 citations)
In his most recent research, the most cited papers focused on:
Stephen P. Robertson mainly focuses on Phenotype, Cell biology, Cerebral cortex, Filamin and Computational biology.
His work in the fields of Organoid, Axon guidance and Hippo signaling overlaps with other areas such as Protein turnover.
In the subject of general Filamin, his work in FLNA is often linked to Nonsense-mediated decay, thereby combining diverse domains of study.
His studies examine the connections between Computational biology and genetics, as well as such issues in Nosology, with regards to Allele.
His Fragile X syndrome research is under the purview of Genetics.
Stephen P. Robertson integrates many fields, such as Genetics and H3K4me3, in his works.
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