David A Mackey
David A Mackey
Professor of Ophthalmology, University of Western Australia
Verified email at lei.org.au
TitleCited byYear
Identification of a gene that causes primary open angle glaucoma
EM Stone, JH Fingert, WLM Alward, TD Nguyen, JR Polansky, ...
Science 275 (5300), 668-670, 1997
14191997
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
JH Fingert, E Héon, JM Liebmann, T Yamamoto, JE Craig, J Rait, ...
Human molecular genetics 8 (5), 899-905, 1999
5851999
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
WLM Alward, JH Fingert, MA Coote, AT Johnson, SF Lerner, D Junqua, ...
New England Journal of Medicine 338 (15), 1022-1027, 1998
4561998
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134, 2016
4132016
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
N Howell, LA Bindoff, DA McCullough, I Kubacka, J Poulton, D Mackey, ...
American journal of human genetics 49 (5), 939, 1991
3931991
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ...
Nature genetics 22 (2), 199, 1999
3911999
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
MA Tischfield, HN Baris, C Wu, G Rudolph, L Van Maldergem, W He, ...
Cell 140 (1), 74-87, 2010
3802010
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.
DA Mackey, RJ Oostra, T Rosenberg, E Nikoskelainen, J Bronte-Stewart, ...
American journal of human genetics 59 (2), 481, 1996
3441996
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q
C Toomes, HM Bottomley, RM Jackson, KV Towns, S Scott, DA Mackey, ...
The American Journal of Human Genetics 74 (4), 721-730, 2004
3142004
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma
G Thorleifsson, GB Walters, AW Hewitt, G Masson, A Helgason, A DeWan, ...
Nature genetics 42 (10), 906, 2010
3082010
Retinal vascular caliber: systemic, environmental, and genetic associations
C Sun, JJ Wang, DA Mackey, TY Wong
Survey of ophthalmology 54 (1), 74-95, 2009
3082009
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
KP Burdon, S Macgregor, AW Hewitt, S Sharma, G Chidlow, RA Mills, ...
Nature genetics 43 (6), 574, 2011
3072011
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
VJM Verhoeven, PG Hysi, R Wojciechowski, Q Fan, JA Guggenheim, ...
Nature genetics 45 (3), 314, 2013
2972013
The association between time spent outdoors and myopia in children and adolescents: a systematic review and meta-analysis
JC Sherwin, MH Reacher, RH Keogh, AP Khawaja, DA Mackey, PJ Foster
Ophthalmology 119 (10), 2141-2151, 2012
2952012
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)
AB McKie, JC McHale, TJ Keen, EE Tarttelin, R Goliath, ...
Human molecular genetics 10 (15), 1555-1562, 2001
2692001
Retinopathy of prematurity: recent advances in our understanding
CM Wheatley, JL Dickinson, DA Mackey, JE Craig, MM Sale
British Journal of Ophthalmology 86 (6), 696-700, 2002
2672002
How rapidly does the human mitochondrial genome evolve?
N Howell, I Kubacka, DA Mackey
American journal of human genetics 59 (3), 501, 1996
2591996
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates
N Howell, CB Smejkal, DA Mackey, PF Chinnery, DM Turnbull, ...
The American Journal of Human Genetics 72 (3), 659-670, 2003
2572003
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.
D Mackey, N Howell
American journal of human genetics 51 (6), 1218, 1992
2431992
Rare and low-frequency coding variants alter human adult height
E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ...
Nature 542 (7640), 186, 2017
2282017
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