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Genetics

D-Index
67
Citations
18531
World Ranking
2517
National Ranking
320

Overview

David T. Bonthron is affiliated with the University of Leeds in the United Kingdom. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, Medicine, and Immunology and Microbiology. Within these areas, they have contributed notably to subfields including Molecular Biology, Immunology, Genetics, Pediatrics, Perinatology and Child Health, and Plant Science.

The scientist's main topics of work encompass:

  • Genomics and Phylogenetic Studies
  • Immunodeficiency and Autoimmune Disorders
  • Chromosomal and Genetic Variations
  • Immune Cell Function and Interaction
  • RNA Research and Splicing
  • RNA Modifications and Cancer
  • Nuclear Structure and Function

Notable recent publications include:

  • "Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly," 2020, published in Neuron
  • "Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis," 2022, published in Prenatal Diagnosis
  • "Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions," 2020, published in Laboratory Investigation
  • "Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12," 2023, published in Journal of Clinical Immunology
  • "Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant," 2022, published in Journal of Medical Genetics

Frequent co-authors collaborating with David T. Bonthron include:

  • Christopher M. Watson
  • Laura A. Crinnion
  • Eamonn Sheridan
  • Kieran Walker
  • Anoop Mistry

The main venues for their publications are:

  • Journal of Clinical Immunology
  • Journal of Medical Genetics
  • Neuron
  • Prenatal Diagnosis
  • Laboratory Investigation

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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

    Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

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

    Bruce E. Hayward;Veronica Moran;Lisa Strain;David T. Bonthron

  • Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

    Clare V Logan;György Szabadkai;György Szabadkai;Jenny A Sharpe;David A Parry

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

    Bruce E. Hayward;Mamoru Kamiya;Lisa Strain;Veronica Moran

  • Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy

    Sandeep Uppal;Sandeep Uppal;Christine P Diggle;Ian M Carr;Colin W G Fishwick

  • Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly

    Bruce E. Hayward;Anne Barlier;Márta Korbonits;Ashley B. Grossman

  • Identification of SATB2 as the cleft palate gene on 2q32-q33

    David R FitzPatrick;Ian M Carr;Lorna McLaren;Jack P Leek

  • High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase

    Takuji Ishimoto;Miguel A. Lanaspa;Christopher J. Rivard;Carlos A. Roncal‐Jimenez

  • Human platelet-derived growth factor A chain is transcriptionally repressed by the Wilms tumor suppressor WT1.

    Andrea L. Gashler;David T. Bonthron;Stephen L. Madden;Frank J. Rauscher

  • Opposing effects of fructokinase C and A isoforms on fructose-induced metabolic syndrome in mice

    Takuji Ishimoto;Miguel A. Lanaspa;MyPhuong T. Le;Gabriela E. Garcia

  • Structure of pre-pro-von Willebrand factor and its expression in heterologous cells

    David T. Bonthron;David T. Bonthron;David T. Bonthron;Robert I. Handin;Randal J. Kaufman;Louise C. Wasley

  • A global disorder of imprinting in the human female germ line

    Hannah Judson;Bruce E. Hayward;Eamonn Sheridan;David T. Bonthron

  • Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte

    David A. Parry;Clare V. Logan;Bruce E. Hayward;Michael Shires

Frequent Co-Authors

Eamonn Sheridan
Eamonn Sheridan University of Leeds
Alexander F. Markham
Alexander F. Markham St James's University Hospital
Graham R. Taylor
Graham R. Taylor Imperial College London
Clare V. Logan
Clare V. Logan University of Edinburgh
Colin A. Johnson
Colin A. Johnson University of Leeds
Stuart H. Orkin
Stuart H. Orkin Harvard University
Tucker Collins
Tucker Collins Boston Children's Hospital
Yanick J. Crow
Yanick J. Crow Université Paris Cité
David Ginsburg
David Ginsburg University of Michigan–Ann Arbor
Richard J. Johnson
Richard J. Johnson University of Colorado Denver

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