David A Mackey - Google Scholar Citations

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Alex HewittUniversity of TasmaniaVerified email at utas.edu.au
Kathryn BurdonMenzies Institute for Medical Research, University of TasmaniaVerified email at utas.edu.au
Assoc Prof Stuart MacGregorHead, Statistical Genetics Lab, QIMR Berghofer Medical Research Institute, Brisbane, AustraliaVerified email at qimr.edu.au
Edwin M. StoneUniversity of Iowa, Carver College of Medicine, Department of Ophthalmology and Visual SciencesVerified email at uiowa.edu
Seyhan YazarGarvan Institute of Medical ResearchVerified email at garvan.org.au
John FingertProfessor of Ophthalmology, Carver College of Medicine, University of IowaVerified email at uiowa.edu
Nick MartinQIMR Berghofer Medical Research InstituteVerified email at qimrberghofer.edu.au
Paul SanfilippoBiostatistician and Data AnalystVerified email at pgrad.unimelb.edu.au
Val C. Sheffield, M.D., Ph.D.Investigator, Howard Hughes Medical Institute, Professor of Pediatrics, University of IowaVerified email at uiowa.edu
Emmanuelle SouzeauVerified email at flinders.edu.au
Wallace AlwardProfessor of Ophthalmology, University of Iowa Carver College of MedicineVerified email at uiowa.edu
Tim D SpectorSt Thomas Hospital, Kings College LondonVerified email at kcl.ac.uk
Michele SaleAssociate Professor of Public Health Sciences, University of VirginiaVerified email at virginia.edu
Grant MontgomeryProfessorial Research Fellow, Institute for Molecular Bioscience, The University of QueenslandVerified email at uq.edu.au
sandra staffiericentre for eye research australiaVerified email at unimelb.edu.au
robert cassonProfessor of Ophthalmology, Adelaide UniversityVerified email at adelaide.edu.au
Tien Yin WongSingapore National Eye CenterVerified email at nus.edu.sg
Fred K ChenThe University of Western AustraliaVerified email at lei.org.au
jonathan guy crowstonUniversity of Melbourne, Centre for Eye Research Australia, OphthalmologyVerified email at unimelb.edu.au
Craig PennellThe University of NewcastleVerified email at newcastle.edu.au

David A Mackey

Professor of Ophthalmology, University of Western Australia

Verified email at lei.org.au

Genetics of Eye Disease


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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	1490	1997
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	610	1999
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), 134-143, 2016	543	2016
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	475	1998
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	418	2010
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	404	1991
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), 199-202, 1999	402	1999
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	361	1996
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), 314-318, 2013	353	2013
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	350	2012
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	343	2011
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), 906-909, 2010	337	2010
Retinal vascular caliber: systemic, environmental, and genetic associations C Sun, JJ Wang, DA Mackey, TY Wong Survey of ophthalmology 54 (1), 74-95, 2009	334	2009
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	331	2004
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), 186-190, 2017	320	2017
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	291	2002
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	282	2001
How rapidly does the human mitochondrial genome evolve? N Howell, I Kubacka, DA Mackey American journal of human genetics 59 (3), 501, 1996	274	1996
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	269	2003
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	253	1992

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