World's Best Scientists 2026 revealed!

D-Index & Metrics

Molecular Biology

D-Index
48
Citations
8106
World Ranking
2688
National Ranking
210

Overview

Simon J. McGowan is affiliated with the University of Oxford in the United Kingdom and specializes in biochemistry, genetics, and molecular biology. Their research output includes 31 publications with a major focus on genetics, molecular biology, and immunology among related subfields such as plant science and pulmonary and respiratory medicine.

The scientific work by McGowan covers a variety of topics. Key areas include:

  • Craniofacial Disorders and Treatments
  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Immune responses and vaccinations
  • Immune cells in cancer
  • Single-cell and spatial transcriptomics
  • Cleft Lip and Palate Research

McGowan has published in several frequent venues, contributing notably to:

  • Genetics in Medicine
  • Genome Medicine
  • Journal of Medical Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cell

Among recent scholarly articles attributed to McGowan are:

  • Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases, 2023, Genome Medicine
  • SMAD6 variants in craniosynostosis: genotype and phenotype evaluation, 2020, Genetics in Medicine
  • Germinal centers output clonally diverse plasma cell populations expressing high- and low-affinity antibodies, 2023, Cell
  • Single cell spatial analysis reveals inflammatory foci of immature neutrophil and CD8 T cells in COVID-19 lungs, 2023, Nature Communications
  • CaptureCompendium: a comprehensive toolkit for 3C analysis, 2020, bioRxiv (Cold Spring Harbor Laboratory)

Their frequent co-authors include:

  • Stephen R.F. Twigg
  • Andrew O.M. Wilkie
  • Eduardo Calpena
  • Steven A. Wall
  • Stephen Taylor

Best Publications

  • Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.

    Jim R Hughes;Nigel Roberts;Simon McGowan;Deborah Hay

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Jenny C. Taylor;Jenny C. Taylor;Hilary C. Martin;Stefano Lise;John Broxholme

  • Biosynthesis of carbapenem antibiotic and prodigiosin pigment in Serratia is under quorum sensing control.

    N. R. Thomson;M. A. Crow;S. J. McGowan;A. Cox

  • Intragenic Enhancers Act as Alternative Promoters

    Monika S. Kowalczyk;Jim R. Hughes;David Garrick;Magnus D. Lynch

  • Multiplexed analysis of chromosome conformation at vastly improved sensitivity.

    James O J Davies;Jelena M Telenius;Simon J McGowan;Nigel A Roberts

  • N‐acyl homoserine lactone binding to the CarR receptor determines quorum‐sensing specificity in Erwinia

    Martin Welch;Daniel E. Todd;Neil A. Whitehead;Simon J. McGowan

  • Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing.

    Alba Rodriguez-Meira;Gemma Buck;Sally-Ann Clark;Benjamin J. Povinelli

  • Genome-wide identification of TAL1's functional targets: Insights into its mechanisms of action in primary erythroid cells

    Mira T. Kassouf;Jim R. Hughes;Stephen Taylor;Simon J. McGowan

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

    Anne Goriely;Ruth M.S. Hansen;Indira B. Taylor;Inge A. Olesen

  • Mutations in TCF12 , encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

    Vikram P Sharma;Aimée L Fenwick;Mia S Brockop;Mia S Brockop;Simon J McGowan

  • GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

    Irene Roberts;Kate Alford;Georgina Hall;Gaetan Juban

  • Carbapenem antibiotic production in Erwinia carotovora is regulated by CarR, a homologue of the LuxR transcriptional activator

    S. McGowan;M. Sebaihia;S. Jones;B. Yu

  • A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.

    T Schwerd;Twigg Srf.;D Aschenbrenner;S Manrique

  • Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

    Katsiaryna Belaya;Sarah Finlayson;Sarah Finlayson;Clarke R. Slater;Judith Cossins

  • Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

    Stephen R F Twigg;Elena Vorgia;Elena Vorgia;Simon J McGowan;Ioanna Peraki;Ioanna Peraki

  • Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

    Judith Cossins;Katsiaryna Belaya;Debbie Hicks;Mustafa A. Salih

  • Global gene expression analysis of human erythroid progenitors

    Alison T. Merryweather-Clarke;Alison T. Merryweather-Clarke;Ann Atzberger;Shamit Soneji;Nicki Gray

  • Diagnostic value of exome and whole genome sequencing in craniosynostosis.

    Kerry A Miller;Stephen R F Twigg;Simon J McGowan;Julie M Phipps

  • Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

    Katsiaryna Belaya;Pedro M. Rodríguez Cruz;Pedro M. Rodríguez Cruz;Wei Wei Liu;Susan Maxwell

Frequent Co-Authors

Andrew O.M. Wilkie
Andrew O.M. Wilkie University of Oxford
Stephen R.F. Twigg
Stephen R.F. Twigg University of Oxford
James Hughes
James Hughes Emory University
Stephen S. Taylor
Stephen S. Taylor University of Manchester
Douglas R. Higgs
Douglas R. Higgs University of Oxford
Veronica J. Buckle
Veronica J. Buckle University of Oxford
Jenny C. Taylor
Jenny C. Taylor University of Oxford
Peter J. van der Spek
Peter J. van der Spek Erasmus University Rotterdam
Peter Donnelly
Peter Donnelly University of Oxford
Tao Dong
Tao Dong University of Oxford

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