World's Best Scientists 2026 revealed!

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Genetics

D-Index
100
Citations
36941
World Ranking
753
National Ranking
21

Medicine

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107
Citations
42921
World Ranking
6245
National Ranking
174

Overview

David A. Mackey is affiliated with the University of Western Australia in Australia. Their research spans across medicine, with significant contributions to biochemistry, genetics, and molecular biology. The scientist's primary focus lies within ophthalmology, having published extensively in this subfield alongside radiology, nuclear medicine and imaging, molecular biology, epidemiology, and genetics.

The major topics covered in their work include:

  • Glaucoma and retinal disorders
  • Retinal diseases and treatments
  • Corneal surgery and disorders
  • Retinal imaging and analysis
  • Ophthalmology and visual impairment studies
  • Retinal development and disorders
  • Genetic associations and epidemiology

Among recent publications, notable papers include:

  • "Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries," 2021, published in Nature Communications
  • "Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression," 2020, published in Nature Genetics
  • "Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia," 2020, published in Nature Genetics
  • "Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia," 2021, published in Ophthalmic Genetics
  • "Incidence and Progression of Myopia in Early Adulthood," 2022, published in JAMA Ophthalmology

Frequent publication venues reflect a sustained focus on ophthalmic and visual science and include:

  • Investigative Ophthalmology & Visual Science
  • Clinical and Experimental Ophthalmology
  • Translational Vision Science & Technology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Ophthalmology

Collaborative efforts in the field are shown through co-authorship with prominent researchers such as Alex W. Hewitt, Stuart MacGregor, Jamie E. Craig, Samantha Sze-Yee Lee, and Puya Gharahkhani. These collaborations have been frequent and contribute to a broad network within ophthalmic genetics and epidemiology research.

In addition to journal articles, David A. Mackey has contributed to book publications, notably authoring a volume titled Myopia: Public Health Challenges and Interventions, published by Frontiers Media in 2022.

Best Publications

  • Identification of a Gene That Causes Primary Open Angle Glaucoma

    Edwin M. Stone;John H. Fingert;Wallace L. M. Alward;Thai D. Nguyen

  • A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

    Lars G. Fritsche;Wilmar Igl;Jessica N.Cooke Bailey;Felix Grassmann

  • Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

    Max A. Tischfield;Hagit N. Baris;Chen Wu;Guenther Rudolph

  • Analysis of Myocilin Mutations in 1703 Glaucoma Patients From Five Different Populations

    John H. Fingert;Elise Héon;Jeffrey M. Liebmann;Tetsuya Yamamoto

  • Retinopathy of prematurity: recent advances in our understanding

    C M Wheatley;J L Dickinson;D A Mackey;J E Craig

  • The association between time spent outdoors and myopia in children and adolescents: a systematic review and meta-analysis.

    Justin C. Sherwin;Mark H. Reacher;Ruth H. Keogh;Anthony P. Khawaja

  • Clinical Features Associated with Mutations in the Chromosome 1 Open-Angle Glaucoma Gene (GLC1A)

    W. L. M. Alward;J. H. Fingert;M. A. Coote;A. T. Johnson

  • A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

    Edwin M. Stone;Andrew J. Lotery;Francis L. Munier;Elise Héon

  • Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

    Virginie J M Verhoeven;Pirro G Hysi;Robert Wojciechowski;Robert Wojciechowski;Qiao Fan

  • Leber Hereditary Optic Neuropathy: Identification of the Same Mitochondrial ND1 Mutation in Six Pedigrees

    N Howell;L A Bindoff;D A McCullough;I Kubacka

  • Retinal vascular caliber: systemic, environmental and genetic associations

    Cong Sun;Jie Jin Wang;Jie Jin Wang;David A. Mackey;David A. Mackey;Tien Y. Wong;Tien Y. Wong

  • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

    Kathryn P Burdon;Stuart Macgregor;Alex W Hewitt;Alex W Hewitt;Shiwani Sharma

  • Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

    Gudmar Thorleifsson;G Bragi Walters;Alex W Hewitt;Alex W Hewitt;Gisli Masson

  • Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

    D A Mackey;R J Oostra;T Rosenberg;E Nikoskelainen

  • Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

    Carmel Toomes;Helen M. Bottomley;Richard M. Jackson;Katherine V. Towns

  • Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

    Yi Lu;Veronique Vitart;Kathryn P. Burdon;Chiea Chuen Khor

  • Genetic influences on handedness: Data from 25,732 Australian and Dutch twin families

    Sarah E. Medland;Sarah E. Medland;David L. Duffy;Margaret J. Wright;Gina M. Geffen

  • Null mutations in LTBP2 cause primary congenital glaucoma.

    Manir Ali;Martin McKibbin;Martin McKibbin;Adam Booth;David A. Parry

  • Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

    Arthur B. McKie;John C. McHale;T. Jeffrey Keen;Emma E. Tarttelin

  • Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

    K. P. Burdon;S. MacGregor;A. W. Hewitt;S. Sharma

Frequent Co-Authors

Alex W. Hewitt
Alex W. Hewitt University of Tasmania
Jamie E. Craig
Jamie E. Craig Flinders University
Kathryn P. Burdon
Kathryn P. Burdon University of Tasmania
Christopher J. Hammond
Christopher J. Hammond King's College London
Stuart MacGregor
Stuart MacGregor QIMR Berghofer Medical Research Institute
Terri L. Young
Terri L. Young University of Wisconsin–Madison
Paul Mitchell
Paul Mitchell University of Sydney
Pirro G. Hysi
Pirro G. Hysi King's College London
Nicholas G. Martin
Nicholas G. Martin QIMR Berghofer Medical Research Institute
Jie Jin Wang
Jie Jin Wang University of Sydney

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