D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 63 Citations 16,216 154 World Ranking 2073 National Ranking 266

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • DNA

David T. Bonthron mostly deals with Genetics, Molecular biology, Gene, Genomic imprinting and Exon. His work on Aicardi–Goutières syndrome and Mutation is typically connected to Aicardi syndrome as part of general Genetics study, connecting several disciplines of science. His studies in Molecular biology integrate themes in fields like Response element, Reporter gene, Cell biology and Von Willebrand factor.

His research investigates the connection with Cell biology and areas like Gliosis which intersect with concerns in Internal medicine and Endocrinology. The Genomic imprinting study combines topics in areas such as Imprinting, NLRP7, Epigenetics and G alpha subunit. His Exon study combines topics in areas such as Regulation of gene expression, STX16 and Coding region.

His most cited work include:

  • Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome (609 citations)
  • Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. (605 citations)
  • Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element. (605 citations)

What are the main themes of his work throughout his whole career to date?

His primary scientific interests are in Genetics, Molecular biology, Gene, Exon and Mutation. His work in Allele, Locus, Exome sequencing, Genomic imprinting and Sequence analysis is related to Genetics. In his work, Germline is strongly intertwined with Imprinting, which is a subfield of Genomic imprinting.

David T. Bonthron interconnects Nucleic acid sequence, Alternative splicing, Promoter, Gene mapping and Von Willebrand factor in the investigation of issues within Molecular biology. His study in Von Willebrand factor is interdisciplinary in nature, drawing from both Protein primary structure and Glycoprotein. His research investigates the connection between Exon and topics such as Homology that intersect with issues in Peptide sequence.

He most often published in these fields:

  • Genetics (62.35%)
  • Molecular biology (29.41%)
  • Gene (21.76%)

What were the highlights of his more recent work (between 2012-2021)?

  • Genetics (62.35%)
  • Exome sequencing (11.18%)
  • Internal medicine (11.76%)

In recent papers he was focusing on the following fields of study:

David T. Bonthron focuses on Genetics, Exome sequencing, Internal medicine, Endocrinology and Computational biology. His Genetics and Whole genome sequencing, Mutation, Genotype, Genetic testing and Gene duplication investigations all form part of his Genetics research activities. The various areas that David T. Bonthron examines in his Gene duplication study include Allele and Exon.

His research integrates issues of Nonsense mutation, Consanguinity and Craniofacial in his study of Exome sequencing. His study explores the link between Internal medicine and topics such as Fructose that cross with problems in Metabolic syndrome, Insulin resistance, Sucrose and Aldose reductase. In his research, Tubulin and Microtubule is intimately related to Knockout mouse, which falls under the overarching field of Endocrinology.

Between 2012 and 2021, his most popular works were:

  • Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome (609 citations)
  • Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling (218 citations)
  • High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase (161 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • DNA

His main research concerns Genetics, Internal medicine, Endocrinology, Exome sequencing and Fructose. In his study, David T. Bonthron carries out multidisciplinary Genetics and Ciliary Motility Disorders research. David T. Bonthron has included themes like PDE10A and Phosphodiesterase in his Internal medicine study.

His work on Polyol pathway as part of his general Endocrinology study is frequently connected to Schizophrenia and Striatum, thereby bridging the divide between different branches of science. His work on Exome as part of general Exome sequencing research is frequently linked to Ubiquitin ligase, bridging the gap between disciplines. His Fructose research is multidisciplinary, incorporating perspectives in Metabolic syndrome, Metabolism and Endogeny.

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.

Best Publications

Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome

Miguel A. Lanaspa;Takuji Ishimoto;Nanxing Li;Christina Cicerchi.
Nature Communications (2013)

1289 Citations

Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.

N Resnick;T Collins;W Atkinson;D T Bonthron.
Proceedings of the National Academy of Sciences of the United States of America (1993)

843 Citations

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins.
Nature Genetics (2006)

807 Citations

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Gillian I Rice;Jacquelyn Bond;Aruna Asipu;Rebecca L Brunette.
Nature Genetics (2009)

699 Citations

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner.
Nature Genetics (2006)

679 Citations

Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization

David Ginsburg;David Ginsburg;Robert I. Handin;Robert I. Handin;David T. Bonthron;Timothy A. Donlon;Timothy A. Donlon.
Science (1985)

535 Citations

PDGF B-chain in neurons of the central nervous system, posterior pituitary, and in a transgenic model

Masakiyo Sasahara;Jochen W.U. Fries;Elaine W. Raines;Allen M. Gown.
Cell (1991)

510 Citations

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

Bruce E. Hayward;Veronica Moran;Lisa Strain;David T. Bonthron.
Proceedings of the National Academy of Sciences of the United States of America (1998)

413 Citations

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor.
(2007)

392 Citations

The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.

Bruce E. Hayward;Mamoru Kamiya;Lisa Strain;Veronica Moran.
Proceedings of the National Academy of Sciences of the United States of America (1998)

368 Citations

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