What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
The scientist’s investigation covers issues in Genetics, Exome, Human genetics, Disease and Exome sequencing.
All of his Genetics and Phenotype, Gene duplication, Genomics, Chromosome and Gene investigations are sub-components of the entire Genetics study.
His Exome research focuses on subjects like Genetic heterogeneity, which are linked to Robinow syndrome, Frameshift mutation, Dwarfism, Exon and Sanger sequencing.
In his study, which falls under the umbrella issue of Human genetics, Bohring–Opitz syndrome, Failure to thrive, Proband and Locus heterogeneity is strongly linked to Bioinformatics.
His Disease research includes themes of Human Phenotype Ontology and Pediatrics.
In his work, Mutation is strongly intertwined with PTEN, which is a subfield of Exome sequencing.
His most cited work include:
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities (415 citations)
- Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation (317 citations)
- Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia (231 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of investigation include Genetics, Exome sequencing, Disease, Pediatrics and Osteogenesis imperfecta.
His Genetics study focuses mostly on Missense mutation, Gene, Phenotype, Allele and Exome.
His Exome sequencing research also works with subjects such as
- Mendelian inheritance, which have a strong connection to Genomics,
- Human genetics most often made with reference to Copy-number variation,
- Hypotonia which connect with Intellectual disability.
His Disease study frequently draws parallels with other fields, such as Family history.
V. Reid Sutton has researched Pediatrics in several fields, including Young adult, Body mass index and Cohort.
His Osteogenesis imperfecta study integrates concerns from other disciplines, such as Ambulatory, Clinical research, Rehabilitation and Mobility Limitation.
He most often published in these fields:
- Genetics (47.72%)
- Exome sequencing (23.86%)
- Disease (20.30%)
What were the highlights of his more recent work (between 2019-2021)?
- Genetics (47.72%)
- Robinow syndrome (14.72%)
- Missense mutation (13.20%)
In recent papers he was focusing on the following fields of study:
His main research concerns Genetics, Robinow syndrome, Missense mutation, Osteogenesis imperfecta and Phenotype.
His study connects Skeletal abnormalities and Genetics.
His Robinow syndrome research is multidisciplinary, relying on both Osteosclerosis, Physical examination and Locus heterogeneity.
The various areas that V. Reid Sutton examines in his Missense mutation study include Metabolic disorder, CAD and Allele.
His biological study spans a wide range of topics, including Pregnancy, Low birth weight, Clinical research, Diabetes mellitus and Neonatal intensive care unit.
His study in Phenotype is interdisciplinary in nature, drawing from both Mutant, Genome, Nonsense and CRISPR.
Between 2019 and 2021, his most popular works were:
- Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). (7 citations)
- Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome). (7 citations)
- Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. (5 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
V. Reid Sutton mainly investigates Genetics, Pediatrics, Exome sequencing, Robinow syndrome and Locus heterogeneity.
His research on Genetics frequently connects to adjacent areas such as Metabolic disorder.
His research in Pediatrics intersects with topics in Hearing loss, Intellectual disability and Obstructive sleep apnea.
His Exome sequencing research is multidisciplinary, incorporating perspectives in Sanger sequencing, Genetic heterogeneity, Wnt signaling pathway and Locus.
His Robinow syndrome study combines topics in areas such as Genetic disorder, Brachydactyly, Physical examination, Mesomelia and Clinodactyly.
His Missense mutation research incorporates elements of Proband, Osteochondrodysplasia, Genomics, Allele and Short stature.
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