David A. Mackey

Research interests

Publications

• Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

  Nature Communications · 2021 · https://doi.org/10.1038/s41467-020-20851-4

• Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

  Nature Genetics · 2020 · https://doi.org/10.1038/s41588-019-0556-y

• Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia

  Nature Genetics · 2020 · https://doi.org/10.1038/s41588-020-0599-0

• IMI – Myopia Genetics Report

  Investigative Ophthalmology & Visual Science · 2019 · 10.1167/iovs.18-25965

• Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

  Nature Genetics · 2018 · https://doi.org/10.1038/s41588-018-0127-7

• Axial Length Variation Impacts on Superficial Retinal Vessel Density and Foveal Avascular Zone Area Measurements Using Optical Coherence Tomography Angiography

  Investigative Ophthalmology & Visual Science · 2017 · 10.1167/iovs.17-21551

• Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

  Journal of Clinical Investigation · 2016 · 10.1172/jci85830

• Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

  Nature Genetics · 2016 · https://doi.org/10.1038/ng.3482

• New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

  Human Molecular Genetics · 2016 · https://doi.org/10.1093/hmg/ddw399

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

  Nature Genetics · 2015 · https://doi.org/10.1038/ng.3448

• Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3087

• Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3079

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

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2506

• Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma

  PLoS Genetics · 2012 · https://doi.org/10.1371/journal.pgen.1002611

• The Association between Time Spent Outdoors and Myopia in Children and Adolescents

  Ophthalmology · 2012 · https://doi.org/10.1016/j.ophtha.2012.04.020

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

  Nature Genetics · 2011 · 10.1038/ng.824

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

  Nature Genetics · 2010 · https://doi.org/10.1038/ng.661

• Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

  Cell · 2010 · https://doi.org/10.1016/j.cell.2009.12.011

• Null Mutations in LTBP2 Cause Primary Congenital Glaucoma

  The American Journal of Human Genetics · 2009 · 10.1016/j.ajhg.2009.03.017

• Retinal Vascular Caliber: Systemic, Environmental, and Genetic Associations

  Survey of Ophthalmology · 2009 · 10.1016/j.survophthal.2008.10.003

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

  Neuropsychologia · 2008 · 10.1016/j.neuropsychologia.2008.09.005

• Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q

  The American Journal of Human Genetics · 2004 · 10.1086/383202

• Reproductive management of postpartum cows

  Animal Reproduction Science · 2000 · 10.1016/s0378-4320(00)00107-x

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

  Nature Genetics · 1999 · 10.1038/9722

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

  Human Molecular Genetics · 1999 · 10.1093/hmg/8.5.899

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

  New England Journal of Medicine · 1998 · 10.1056/nejm199804093381503

• Identification of a Gene That Causes Primary Open Angle Glaucoma

  Science · 1997 · 10.1126/science.275.5300.668

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

  PubMed · 1996

• Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

  PubMed · 1991

Current projects

No projects listed.