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Genetics

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

Deborah J.G. Mackay publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Deborah J.G. Mackay sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 127 publications — 19th percentile

19% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

Deborah J.G. Mackay D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Deborah J.G. Mackay sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 52 D-Index — 14th percentile

14% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

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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