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Genetics

D-Index
52
Citations
11944
World Ranking
3783
National Ranking
441

Overview

Deborah J.G. Mackay is affiliated with the University of Southampton in the United Kingdom. Their research focuses primarily on genetics, molecular biology, and pediatrics, with a particular emphasis on genetic syndromes and imprinting, prenatal screening and diagnostics, and epigenetics and DNA methylation.

The scientist has contributed extensively to the study of imprinting disorders and genomic imprinting. Notable recent publications include:

  • "Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences" (2020, Human Reproduction Update)
  • "Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences" (2022, Clinical Epigenetics)
  • "First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders" (2022, Clinical Epigenetics)
  • "Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood" (2020, Journal of Medical Genetics)
  • "Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis" (2024, Clinical Epigenetics)

Mackay's frequent coauthors include:

  • I. Karen Temple
  • Justin H. Davies
  • Oluwakemi Lokulo-Sodipe
  • Jenny Child
  • Hazel Inskip

Research outputs appear predominantly in the following venues:

  • Clinical Epigenetics
  • Journal of Medical Genetics
  • American Journal of Medical Genetics Part A
  • Human Reproduction Update
  • Clinical Endocrinology

The main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Subfields of study explored in their publications are:

  • Genetics
  • Molecular Biology
  • Pediatrics, Perinatology and Child Health
  • Surgery
  • Philosophy

Key topics covered by Mackay's work include:

  • Genetic Syndromes and Imprinting
  • Prenatal Screening and Diagnostics
  • Epigenetics and DNA Methylation
  • Pancreatic function and diabetes
  • Gestational Trophoblastic Disease Studies
  • Tumors and Oncological Cases
  • Genomic variations and chromosomal abnormalities

Best Publications

  • Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

    Anna L Gloyn;Ewan R. Pearson;Jennifer F. Antcliff;Peter Proks

  • Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

    Deborah J G Mackay;Deborah J G Mackay;Jonathan L A Callaway;Jonathan L A Callaway;Sophie M Marks;Helen E White

  • Diagnosis and management of Silver–Russell syndrome: first international consensus statement

    Emma L. Wakeling;Frédéric Brioude;Frédéric Brioude;Oluwakemi Lokulo-Sodipe;Oluwakemi Lokulo-Sodipe;Susan M. O'Connell

  • Rho- and Rac-dependent Assembly of Focal Adhesion Complexes and Actin Filaments in Permeabilized Fibroblasts: An Essential Role for Ezrin/Radixin/Moesin Proteins

    Deborah J.G. Mackay;Fred Esch;Heinz Furthmayr;Alan Hall

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

    Frédéric Brioude;Jennifer M Kalish;Alessandro Mussa;Alison C Foster;Alison C Foster

  • Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

    Sarah E. Flanagan;Ann-Marie Patch;Deborah J.G. Mackay;Emma L. Edghill

  • The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

    Elisa De Franco;Sarah E Flanagan;Jayne A L Houghton;Hana Lango Allen

  • Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.

    I. K. Temple;R. J. Gardner;D. J. G. Mackay;J. C. K. Barber

  • Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

    Dave Nicholas Monk;Deborah J. G Mackay;Thomas Eggermann;Eamonn R. Maher

  • The membrane spanning domain of beta-1,4-galactosyltransferase specifies trans Golgi localization.

    T Nilsson;J M Lucocq;D Mackay;Graham Warren

  • An imprinted locus associated with transient neonatal diabetes mellitus

    Rebecca J. Gardner;Deborah J.G. Mackay;Andrew J. Mungall;Constantin Polychronakos

  • Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

    Jet Bliek;Gaetano Verde;Jonathan Callaway;Jonathan Callaway;Saskia M Maas

  • Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.

    Sian Ellard;Sarah E. Flanagan;Christophe A. Girard;Ann-Marie Patch

  • A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

    D. J. G. Mackay;D. J. G. Mackay;S. E. Boonen;J. Clayton-Smith;J. Goodship

  • Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

    Yiannis Ioannides;Kemi Lokulo-Sodipe;Kemi Lokulo-Sodipe;Deborah J G Mackay;Deborah J G Mackay;Justin H Davies;Justin H Davies

  • Relapsing diabetes can result from moderately activating mutations in KCNJ11.

    Anna L. Gloyn;Frank Reimann;Christophe Girard;Emma L. Edghill

  • Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

    Thomas Eggermann;Thomas Eggermann;Guiomar Perez de Nanclares;Eamonn R. Maher;I. Karen Temple;I. Karen Temple

  • The Rho's progress: a potential role during neuritogenesis for the Rho family of GTPases

    Deborah J.G. Mackay;Catherine D. Nobes;Alan Hall

  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

    Brioude F;Kalish Jm;Mussa A;Foster Ac

  • Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007)

    S. E. Flanagan;A. M. Patch;D. J. G. Mackay;E. L. Edghill

Frequent Co-Authors

I. Karen Temple
I. Karen Temple University of Southampton
Sian Ellard
Sian Ellard University of Exeter
Andrew T. Hattersley
Andrew T. Hattersley University of Exeter
Thomas Eggermann
Thomas Eggermann RWTH Aachen University
Eamonn R. Maher
Eamonn R. Maher University of Cambridge
Anna L. Gloyn
Anna L. Gloyn Stanford University
Zeynep Tümer
Zeynep Tümer Copenhagen University Hospital
Andrea Riccio
Andrea Riccio University of Campania "Luigi Vanvitelli"
Christopher D. Byrne
Christopher D. Byrne University of Southampton
Karin Buiting
Karin Buiting University of Duisburg-Essen

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